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Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea (Diabetes Metab J 2024;48:482-6): Eun Hoo Rho, Soo Heon Kwak; Diabetes Metab J. 2024;48(4):818-819. Published online July 26, 2024; DOI: https://doi.org/10.4093/dmj.2024.0154

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Brief Report

Genetics
Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea: Eun Hoo Rho, Sang Ik Baek, Heerah Lee, Moon-Woo Seong, Jong-Hee Chae, Kyong Soo Park, Soo Heon Kwak; Diabetes Metab J. 2024;48(3):482-486. Published online February 1, 2024; DOI: https://doi.org/10.4093/dmj.2023.0078

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Maternally inherited diabetes and deafness (MIDD) is a rare mitochondrial disorder primarily resulting from m.3243A>G mutation. The clinical characteristics of MIDD exhibit significant heterogeneity. Our study aims to delineate these characteristics and determine the potential correlation with m.3243A>G heteroplasmy levels. This retrospective, descriptive study encompassed patients with confirmed m.3243A>G mutation and diabetes mellitus at Seoul National University Hospital. Our cohort comprises 40 patients with MIDD, with a mean age at study enrollment of 33.3±12.9 years and an average % of heteroplasmy of 30.0%± 14.6% in the peripheral blood. The most prevalent comorbidity was hearing loss (90%), followed by albuminuria (61%), seizure (38%), and stroke (33%). We observed a significant negative correlation between % of heteroplasmy and age at diabetes diagnosis. These clinical features can aid in the suspicion of MIDD and further consideration of genetic testing for m.3243A>G mutation.

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Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea (Diabetes Metab J 2024;48:482-6)
Eun Hoo Rho, Soo Heon Kwak
Diabetes & Metabolism Journal.2024; 48(4): 818. CrossRef
MIDD Patients Should Not Be Confused with MELAS Patients, Even Though Both Carry the m.3243A>G Variant
Josef Finsterer, Sounira Mehri
Diabetes & Metabolism Journal.2024; 48(4): 816. CrossRef

Original Articles

Genetics
Genome-Wide Association Study on Longitudinal Change in Fasting Plasma Glucose in Korean Population: Heejin Jin, Soo Heon Kwak, Ji Won Yoon, Sanghun Lee, Kyong Soo Park, Sungho Won, Nam H. Cho; Diabetes Metab J. 2023;47(2):255-266. Published online January 19, 2023; DOI: https://doi.org/10.4093/dmj.2021.0375

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Background
Genome-wide association studies (GWAS) on type 2 diabetes mellitus (T2DM) have identified more than 400 distinct genetic loci associated with diabetes and nearly 120 loci for fasting plasma glucose (FPG) and fasting insulin level to date. However, genetic risk factors for the longitudinal deterioration of FPG have not been thoroughly evaluated. We aimed to identify genetic variants associated with longitudinal change of FPG over time.
Methods
We used two prospective cohorts in Korean population, which included a total of 10,528 individuals without T2DM. GWAS of repeated measure of FPG using linear mixed model was performed to investigate the interaction of genetic variants and time, and meta-analysis was conducted. Genome-wide complex trait analysis was used for heritability calculation. In addition, expression quantitative trait loci (eQTL) analysis was performed using the Genotype-Tissue Expression project.
Results
A small portion (4%) of the genome-wide single nucleotide polymorphism (SNP) interaction with time explained the total phenotypic variance of longitudinal change in FPG. A total of four known genetic variants of FPG were associated with repeated measure of FPG levels. One SNP (rs11187850) showed a genome-wide significant association for genetic interaction with time. The variant is an eQTL for NOC3 like DNA replication regulator (NOC3L) gene in pancreas and adipose tissue. Furthermore, NOC3L is also differentially expressed in pancreatic β-cells between subjects with or without T2DM. However, this variant was not associated with increased risk of T2DM nor elevated FPG level.
Conclusion
We identified rs11187850, which is an eQTL of NOC3L, to be associated with longitudinal change of FPG in Korean population.

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Unraveling the understudied influence of a lead variant in the 9p21 locus on the atherogenic index among type 2 diabetes patients with coronary artery disease
Mahsa Naserian, Ahad Alizadeh, Mani Nosrati, Abdolkarim Mahrooz
Journal of Diabetes & Metabolic Disorders.2024;[Epub] CrossRef
Abdominal aortic aneurysm and cardiometabolic traits share strong genetic susceptibility to lipid metabolism and inflammation
Shufen Zheng, Philip S. Tsao, Cuiping Pan
Nature Communications.2024;[Epub] CrossRef

Drug/Regimen
Comparison of Prevailing Insulin Regimens at Different Time Periods in Hospitalized Patients: A Real-World Experience from a Tertiary Hospital: Sun Joon Moon, Hun Jee Choe, Soo Heon Kwak, Hye Seung Jung, Kyong Soo Park, Young Min Cho; Diabetes Metab J. 2022;46(3):439-450. Published online October 20, 2021; DOI: https://doi.org/10.4093/dmj.2021.0065

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Abstract PDF Supplementary Material PubReader ePub: Background
Prevailing insulin regimens for glycemic control in hospitalized patients have changed over time. We aimed to determine whether the current basal-bolus insulin (BBI) regimen is superior to the previous insulin regimen, mainly comprising split-mixed insulin therapy.
Methods
This was a single tertiary center, retrospective observational study that included non-critically ill patients with type 2 diabetes mellitus who were treated with split-mixed insulin regimens from 2004 to 2007 (period 1) and with BBI from 2008 to 2018 (period 2). Patients from each period were analyzed after propensity score matching. The mean difference in glucose levels and the achievement of fasting and preprandial glycemic targets by day 6 of admission were assessed. The total daily insulin dose, incidence of hypoglycemia, and length of hospital stay were also evaluated.
Results
Among 244 patients from each period, both fasting glucose (estimated mean±standard error, 147.4±3.1 mg/dL vs. 129.4±3.2 mg/dL, P<0.001, day 6) and preprandial glucose (177.7±2.8 mg/dL vs. 152.8±2.8 mg/dL, P<0.001, day 6) were lower in period 2 than in period 1. By day 6 of hospital admission, 42.6% and 67.2% of patients achieved a preprandial glycemic target of <140 mg/dL in periods 1 and 2, respectively (relative risk, 2.00; 95% confidence interval, 1.54 to 2.59), without an increased incidence of hypoglycemia. Length of stay was shorter in period 2 (10.23±0.26 days vs. 8.70±0.26 days, P<0.001).
Conclusion
BBI improved glycemic control in a more efficacious manner than a split-mixed insulin regimen without increasing the risk of hypoglycemia in a hospital setting.

Drug/Regimen
Effects of Teneligliptin on HbA1c levels, Continuous Glucose Monitoring-Derived Time in Range and Glycemic Variability in Elderly Patients with T2DM (TEDDY Study): Ji Cheol Bae, Soo Heon Kwak, Hyun Jin Kim, Sang-Yong Kim, You-Cheol Hwang, Sunghwan Suh, Bok Jin Hyun, Ji Eun Cha, Jong Chul Won, Jae Hyeon Kim; Diabetes Metab J. 2022;46(1):81-92. Published online June 16, 2021; DOI: https://doi.org/10.4093/dmj.2021.0016

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Background
To evaluate the effects of teneligliptin on glycosylated hemoglobin (HbA1c) levels, continuous glucose monitoring (CGM)-derived time in range, and glycemic variability in elderly type 2 diabetes mellitus patients.
Methods
This randomized, double-blinded, placebo-controlled study was conducted in eight centers in Korea (clinical trial registration number: NCT03508323). Sixty-five participants aged ≥65 years, who were treatment-naïve or had been treated with stable doses of metformin, were randomized at a 1:1 ratio to receive 20 mg of teneligliptin (n=35) or placebo (n=30) for 12 weeks. The main endpoints were the changes in HbA1c levels from baseline to week 12, CGM metrics-derived time in range, and glycemic variability.
Results
After 12 weeks, a significant reduction (by 0.84%) in HbA1c levels was observed in the teneligliptin group compared to that in the placebo group (by 0.08%), with a between-group least squares mean difference of –0.76% (95% confidence interval [CI], –1.08 to –0.44). The coefficient of variation, standard deviation, and mean amplitude of glycemic excursion significantly decreased in participants treated with teneligliptin as compared to those in the placebo group. Teneligliptin treatment significantly decreased the time spent above 180 or 250 mg/dL, respectively, without increasing the time spent below 70 mg/dL. The mean percentage of time for which glucose levels remained in the 70 to 180 mg/dL time in range (TIR70–180) at week 12 was 82.0%±16.0% in the teneligliptin group, and placebo-adjusted change in TIR70–180 from baseline was 13.3% (95% CI, 6.0 to 20.6).
Conclusion
Teneligliptin effectively reduced HbA1c levels, time spent above the target range, and glycemic variability, without increasing hypoglycemia in our study population.

Citations

Citations to this article as recorded by

Comparison of teneligliptin and other gliptin-based regimens in addressing insulin resistance and glycemic control in type 2 diabetic patients: a cross-sectional study
Harmanjit Singh, Ravi Rohilla, Shivani Jaswal, Mandeep Singla
Expert Review of Endocrinology & Metabolism.2024; 19(1): 81. CrossRef
Potential approaches using teneligliptin for the treatment of type 2 diabetes mellitus: current status and future prospects
Harmanjit Singh, Jasbir Singh, Ravneet Kaur Bhangu, Mandeep Singla, Jagjit Singh, Farideh Javid
Expert Review of Clinical Pharmacology.2023; 16(1): 49. CrossRef
Mechanism of molecular interaction of sitagliptin with human DPP4 enzyme - New Insights
Michelangelo Bauwelz Gonzatti, José Edvar Monteiro Júnior, Antônio José Rocha, Jonathas Sales de Oliveira, Antônio José de Jesus Evangelista, Fátima Morgana Pio Fonseca, Vânia Marilande Ceccatto, Ariclécio Cunha de Oliveira, José Ednésio da Cruz Freire
Advances in Medical Sciences.2023; 68(2): 402. CrossRef
A prospective multicentre open label study to assess effect of Teneligliptin on glycemic control through parameters of time in range (TIR) Metric using continuous glucose monitoring (TOP-TIR study)
Banshi Saboo, Suhas Erande, A.G. Unnikrishnan
Diabetes & Metabolic Syndrome: Clinical Research & Reviews.2022; 16(2): 102394. CrossRef
Association between Variability of Metabolic Risk Factors and Cardiometabolic Outcomes
Min Jeong Park, Kyung Mook Choi
Diabetes & Metabolism Journal.2022; 46(1): 49. CrossRef

Drug/Regimen
Efficacy and Safety of Self-Titration Algorithms of Insulin Glargine 300 units/mL in Individuals with Uncontrolled Type 2 Diabetes Mellitus (The Korean TITRATION Study): A Randomized Controlled Trial: Jae Hyun Bae, Chang Ho Ahn, Ye Seul Yang, Sun Joon Moon, Soo Heon Kwak, Hye Seung Jung, Kyong Soo Park, Young Min Cho; Diabetes Metab J. 2022;46(1):71-80. Published online June 16, 2021; DOI: https://doi.org/10.4093/dmj.2020.0274

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Background
To compare the efficacy and safety of two insulin self-titration algorithms, Implementing New Strategies with Insulin Glargine for Hyperglycemia Treatment (INSIGHT) and EDITION, for insulin glargine 300 units/mL (Gla-300) in Korean individuals with uncontrolled type 2 diabetes mellitus (T2DM).
Methods
In a 12-week, randomized, open-label trial, individuals with uncontrolled T2DM requiring basal insulin were randomized to either the INSIGHT (adjusted by 1 unit/day) or EDITION (adjusted by 3 units/week) algorithm to achieve a fasting self-monitoring of blood glucose (SMBG) in the range of 4.4 to 5.6 mmol/L. The primary outcome was the proportion of individuals achieving a fasting SMBG ≤5.6 mmol/L without noct urnal hypoglycemia at week 12.
Results
Of 129 individuals (age, 64.1±9.5 years; 66 [51.2%] women), 65 and 64 were randomized to the INSIGHT and EDITION algorithms, respectively. The primary outcome of achievement was comparable between the two groups (24.6% vs. 23.4%, P=0.876). Compared with the EDITION group, the INSIGHT group had a greater reduction in 7-point SMBG but a similar decrease in fasting plasma glucose and glycosylated hemoglobin. The increment of total daily insulin dose was significantly higher in the INSIGHT group than in the EDITION group (between-group difference: 5.8±2.7 units/day, P=0.033). However, body weight was significantly increased only in the EDITION group (0.6±2.4 kg, P=0.038). There was no difference in the occurrence of hypoglycemia between the two groups. Patient satisfaction was significantly increased in the INSIGHT group (P=0.014).
Conclusion
The self-titration of Gla-300 using the INSIGHT algorithm was effective and safe compared with that using the EDITION algorithm in Korean individuals with uncontrolled T2DM (ClinicalTrials.gov number: NCT03406663).

Citations

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Time for Using Machine Learning for Dose Guidance in Titration of People With Type 2 Diabetes? A Systematic Review of Basal Insulin Dose Guidance
Camilla Heisel Nyholm Thomsen, Stine Hangaard, Thomas Kronborg, Peter Vestergaard, Ole Hejlesen, Morten Hasselstrøm Jensen
Journal of Diabetes Science and Technology.2024; 18(5): 1185. CrossRef
Comparative efficacy and safety of weekly tirzepatide versus weekly insulin in type 2 diabetes: A network meta‐analysis of randomized clinical trials
Hazem Ayesh, Sajida Suhail, Suhail Ayesh, Kevin Niswender
Diabetes, Obesity and Metabolism.2024; 26(9): 3801. CrossRef
Basal insulin titration algorithms in patients with type 2 diabetes: the simplest is the best (?)
V.I. Katerenchuk
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (Ukraine).2023; 19(1): 72. CrossRef
Issues of insulin therapy for type 2 diabetes and ways to solve them
V.I. Katerenchuk, A.V. Katerenchuk
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (Ukraine).2023; 19(3): 240. CrossRef

Metabolic Risk/Epidemiology
Maternal Hyperglycemia during Pregnancy Increases Adiposity of Offspring: Hye Rim Chung, Joon Ho Moon, Jung Sub Lim, Young Ah Lee, Choong Ho Shin, Joon-Seok Hong, Soo Heon Kwak, Sung Hee Choi, Hak Chul Jang; Diabetes Metab J. 2021;45(5):730-738. Published online February 22, 2021; DOI: https://doi.org/10.4093/dmj.2020.0154

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Background
The effect of intrauterine hyperglycemia on fat mass and regional fat proportion of the offspring of mothers with gestational diabetes mellitus (OGDM) remains to be determined.
Methods
The body composition of OGDM (n=25) and offspring of normoglycemic mothers (n=49) was compared using dualenergy X-ray absorptiometry at age 5 years. The relationship between maternal glucose concentration during a 100 g oral glucose tolerance test (OGTT) and regional fat mass or proportion was analyzed after adjusting for maternal prepregnancy body mass index (BMI).
Results
BMI was comparable between OGDM and control (median, 16.0 kg/m² vs. 16.1 kg/m² ). Total, truncal, and leg fat mass were higher in OGDM compared with control (3,769 g vs. 2,245 g, P=0.004; 1,289 g vs. 870 g, P=0.017; 1,638 g vs. 961 g, P=0.002, respectively), whereas total lean mass was lower in OGDM (15,688 g vs. 16,941 g, P=0.001). Among OGDM, total and truncal fat mass were correlated with fasting and 3-hour glucose concentrations of maternal 100 g OGTT during pregnancy (total fat mass, r=0.49, P=0.018 [fasting], r=0.473, P=0.023 [3-hour]; truncal fat mass, r=0.571, P=0.004 [fasting], r=0.558, P=0.006 [3-hour]), but there was no correlation between OGDM leg fat mass and maternal OGTT during pregnancy. Regional fat indices were not correlated with concurrent maternal 75 g OGTT values.
Conclusion
Intrauterine hyperglycemia is associated with increased fat mass, especially truncal fat, in OGDM aged 5 years.

Citations

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Advances in free fatty acid profiles in gestational diabetes mellitus
Haoyi Du, Danyang Li, Laura Monjowa Molive, Na Wu
Journal of Translational Medicine.2024;[Epub] CrossRef
2023 Clinical Practice Guidelines for Diabetes Management in Korea: Full Version Recommendation of the Korean Diabetes Association
Jun Sung Moon, Shinae Kang, Jong Han Choi, Kyung Ae Lee, Joon Ho Moon, Suk Chon, Dae Jung Kim, Hyun Jin Kim, Ji A Seo, Mee Kyoung Kim, Jeong Hyun Lim, Yoon Ju Song, Ye Seul Yang, Jae Hyeon Kim, You-Bin Lee, Junghyun Noh, Kyu Yeon Hur, Jong Suk Park, Sang
Diabetes & Metabolism Journal.2024; 48(4): 546. CrossRef
High-fat diet during pregnancy lowers fetal weight and has a long-lasting adverse effect on brown adipose tissue in the offspring
Mihoko Yamaguchi, Jun Mori, Nozomi Nishida, Satoshi Miyagaki, Yasuhiro Kawabe, Takeshi Ota, Hidechika Morimoto, Yusuke Tsuma, Shota Fukuhara, Takehiro Ogata, Takuro Okamaura, Naoko Nakanishi, Masahide Hamaguchi, Hisakazu Nakajima, Michiaki Fukui, Tomoko I
Journal of Developmental Origins of Health and Disease.2023; 14(2): 261. CrossRef
Prediction of gestational diabetes mellitus in Asian women using machine learning algorithms
Byung Soo Kang, Seon Ui Lee, Subeen Hong, Sae Kyung Choi, Jae Eun Shin, Jeong Ha Wie, Yun Sung Jo, Yeon Hee Kim, Kicheol Kil, Yoo Hyun Chung, Kyunghoon Jung, Hanul Hong, In Yang Park, Hyun Sun Ko
Scientific Reports.2023;[Epub] CrossRef
Effects of early standardized management on the growth trajectory of offspring with gestational diabetes mellitus at 0–5 years old: a preliminary longitudinal study
Bingbing Guo, Jingjing Pei, Yin Xu, Yajie Wang, Xinye Jiang
Scientific Reports.2023;[Epub] CrossRef
Gestational Diabetes Mellitus: Diagnostic Approaches and Maternal-Offspring Complications
Joon Ho Moon, Hak Chul Jang
Diabetes & Metabolism Journal.2022; 46(1): 3. CrossRef
Increased Pro-Inflammatory T Cells, Senescent T Cells, and Immune-Check Point Molecules in the Placentas of Patients With Gestational Diabetes Mellitus
Yea Eun Kang, Hyon-Seung Yi, Min-Kyung Yeo, Jung Tae Kim, Danbit Park, Yewon Jung, Ok Soon Kim, Seong Eun Lee, Ji Min Kim, Kyong Hye Joung, Ju Hee Lee, Bon Jeong Ku, Mina Lee, Hyun Jin Kim
Journal of Korean Medical Science.2022;[Epub] CrossRef

Review

Genetics
Update on Monogenic Diabetes in Korea: Ye Seul Yang, Soo Heon Kwak, Kyong Soo Park; Diabetes Metab J. 2020;44(5):627-639. Published online October 21, 2020; DOI: https://doi.org/10.4093/dmj.2020.0214

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Monogenic diabetes, including maturity-onset diabetes of the young, neonatal diabetes, and other rare forms of diabetes, results from a single gene mutation. It has been estimated to represent around 1% to 6% of all diabetes. With the advances in genome sequencing technology, it is possible to diagnose more monogenic diabetes cases than ever before. In Korea, 11 studies have identified several monogenic diabetes cases, using Sanger sequencing and whole exome sequencing since 2001. The recent largest study, using targeted exome panel sequencing, found a molecular diagnosis rate of 21.1% for monogenic diabetes in clinically suspected patients. Mutations in glucokinase (GCK), hepatocyte nuclear factor 1α (HNF1A), and HNF4A were most commonly found. Genetic diagnosis of monogenic diabetes is important as it determines the therapeutic approach required for patients and helps to identify affected family members. However, there are still many challenges, which include a lack of simple clinical criterion for selecting patients for genetic testing, difficulties in interpreting the genetic test results, and high costs for genetic testing. In this review, we will discuss the latest updates on monogenic diabetes in Korea, and suggest an algorithm to screen patients for genetic testing. The genetic tests and non-genetic markers for accurate diagnosis of monogenic diabetes will be also reviewed.

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Targeted gene panel analysis of Japanese patients with maturity‐onset diabetes of the young‐like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes
Tohru Yorifuji, Yoh Watanabe, Kana Kitayama, Yuki Yamada, Shinji Higuchi, Jun Mori, Masaru Kato, Toru Takahashi, Tokuko Okuda, Takane Aoyama
Journal of Diabetes Investigation.2023; 14(3): 387. CrossRef
Efficacy of acupuncture on cardiovascular complications in patients with diabetes mellitus in Korea: A nationwide retrospective cohort
Hyejin Jung, Tiana Won, Ga-Yeon Kim, Jowon Jang, Sujung Yeo, Sabina Lim
Journal of Integrative Medicine.2023; 21(2): 176. CrossRef
Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients
Paulina Jakiel, K. Gadzalska, E. Juścińska, M. Gorządek, T. Płoszaj, S. Skoczylas, M. Borowiec, A. Zmysłowska
Journal of Diabetes & Metabolic Disorders.2023; 23(1): 545. CrossRef
Genetic perspectives on childhood monogenic diabetes: Diagnosis, management, and future directions
Hong-Yan Sun, Xiao-Yan Lin
World Journal of Diabetes.2023; 14(12): 1738. CrossRef
Maturity-Onset Diabetes of the Young (MODY)
Seung Shin Park, Soo Heon Kwak
The Journal of Korean Diabetes.2022; 23(3): 157. CrossRef
The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study
Asma A. Elashi, Salman M. Toor, Ilhame Diboun, Yasser Al-Sarraj, Shahrad Taheri, Karsten Suhre, Abdul Badi Abou-Samra, Omar M. E. Albagha
International Journal of Molecular Sciences.2022; 24(1): 130. CrossRef
Age at Diagnosis and the Risk of Diabetic Nephropathy in Young Patients with Type 1 Diabetes Mellitus (Diabetes Metab J 2021;45:46-54)
Ye Seul Yang, Tae Seo Sohn
Diabetes & Metabolism Journal.2021; 45(2): 277. CrossRef
Sequencing Cell-free Fetal DNA in Pregnant Women With GCK-MODY
Soo Heon Kwak, Camille E Powe, Se Song Jang, Michael J Callahan, Sarah N Bernstein, Seung Mi Lee, Sunyoung Kang, Kyong Soo Park, Hak C Jang, Jose C Florez, Jong-Il Kim, Jong Hee Chae
The Journal of Clinical Endocrinology & Metabolism.2021; 106(9): 2678. CrossRef
Muscle strength, an independent determinant of glycemic control in older adults with long-standing type 2 diabetes: a prospective cohort study
Bo Kyung Koo, Seoil Moon, Min Kyong Moon
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Journal of Genetic Medicine.2021; 18(2): 132. CrossRef

Original Articles

Metabolic Risk/Epidemiology
A Comparison of Predictive Performances between Old versus New Criteria in a Risk-Based Screening Strategy for Gestational Diabetes Mellitus: Subeen Hong, Seung Mi Lee, Soo Heon Kwak, Byoung Jae Kim, Ja Nam Koo, Ig Hwan Oh, Sohee Oh, Sun Min Kim, Sue Shin, Won Kim, Sae Kyung Joo, Errol R. Norwitz, Souphaphone Louangsenlath, Chan-Wook Park, Jong Kwan Jun, Joong Shin Park; Diabetes Metab J. 2020;44(5):726-736. Published online April 13, 2020; DOI: https://doi.org/10.4093/dmj.2019.0126

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Background

The definition of the high-risk group for gestational diabetes mellitus (GDM) defined by the American College of Obstetricians and Gynecologists was changed from the criteria composed of five historic/demographic factors (old criteria) to the criteria consisting of 11 factors (new criteria) in 2017. To compare the predictive performances between these two sets of criteria.

Methods

This is a secondary analysis of a large prospective cohort study of non-diabetic Korean women with singleton pregnancies designed to examine the risk of GDM in women with nonalcoholic fatty liver disease. Maternal fasting blood was taken at 10 to 14 weeks of gestation and measured for glucose and lipid parameters. GDM was diagnosed by the two-step approach.

Results

Among 820 women, 42 (5.1%) were diagnosed with GDM. Using the old criteria, 29.8% (n=244) of women would have been identified as high risk versus 16.0% (n=131) using the new criteria. Of the 42 women who developed GDM, 45.2% (n=19) would have been mislabeled as not high risk by the old criteria versus 50.0% (n=21) using the new criteria (1-sensitivity, 45.2% vs. 50.0%, P>0.05). Among the 778 patients who did not develop GDM, 28.4% (n=221) would have been identified as high risk using the old criteria versus 14.1% (n=110) using the new criteria (1-specificity, 28.4% vs. 14.1%, P<0.001).

Conclusion

Compared with the old criteria, use of the new criteria would have decreased the number of patients identified as high risk and thus requiring early GDM screening by half (from 244 [29.8%] to 131 [16.0%]).

Citations

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Predicting the Risk of Insulin-Requiring Gestational Diabetes before Pregnancy: A Model Generated from a Nationwide Population-Based Cohort Study in Korea
Seung-Hwan Lee, Jin Yu, Kyungdo Han, Seung Woo Lee, Sang Youn You, Hun-Sung Kim, Jae-Hyoung Cho, Kun-Ho Yoon, Mee Kyoung Kim
Endocrinology and Metabolism.2023; 38(1): 129. CrossRef
Metabolic Dysfunction-Associated Fatty Liver Disease and Subsequent Development of Adverse Pregnancy Outcomes
Seung Mi Lee, Young Mi Jung, Eun Saem Choi, Soo Heon Kwak, Ja Nam Koo, Ig Hwan Oh, Byoung Jae Kim, Sun Min Kim, Sang Youn Kim, Gyoung Min Kim, Sae Kyung Joo, Bo Kyung Koo, Sue Shin, Errol R. Norwitz, Chan-Wook Park, Jong Kwan Jun, Won Kim, Joong Shin Park
Clinical Gastroenterology and Hepatology.2022; 20(11): 2542. CrossRef
Nonalcoholic fatty liver disease and early prediction of gestational diabetes mellitus using machine learning methods
Seung Mi Lee, Suhyun Hwangbo, Errol R. Norwitz, Ja Nam Koo, Ig Hwan Oh, Eun Saem Choi, Young Mi Jung, Sun Min Kim, Byoung Jae Kim, Sang Youn Kim, Gyoung Min Kim, Won Kim, Sae Kyung Joo, Sue Shin, Chan-Wook Park, Taesung Park, Joong Shin Park
Clinical and Molecular Hepatology.2022; 28(1): 105. CrossRef
Nonalcoholic fatty liver disease-based risk prediction of adverse pregnancy outcomes: Ready for prime time?
Seung Mi Lee, Won Kim
Clinical and Molecular Hepatology.2022; 28(1): 47. CrossRef
Postprandial Free Fatty Acids at Mid-Pregnancy Increase the Risk of Large-for-Gestational-Age Newborns in Women with Gestational Diabetes Mellitus
So-Yeon Kim, Young Shin Song, Soo-Kyung Kim, Yong-Wook Cho, Kyung-Soo Kim
Diabetes & Metabolism Journal.2022; 46(1): 140. CrossRef
Effect of Different Types of Diagnostic Criteria for Gestational Diabetes Mellitus on Adverse Neonatal Outcomes: A Systematic Review, Meta-Analysis, and Meta-Regression
Fahimeh Ramezani Tehrani, Marzieh Saei Ghare Naz, Razieh Bidhendi-Yarandi, Samira Behboudi-Gandevani
Diabetes & Metabolism Journal.2022; 46(4): 605. CrossRef
Development of early prediction model for pregnancy-associated hypertension with graph-based semi-supervised learning
Seung Mi Lee, Yonghyun Nam, Eun Saem Choi, Young Mi Jung, Vivek Sriram, Jacob S. Leiby, Ja Nam Koo, Ig Hwan Oh, Byoung Jae Kim, Sun Min Kim, Sang Youn Kim, Gyoung Min Kim, Sae Kyung Joo, Sue Shin, Errol R. Norwitz, Chan-Wook Park, Jong Kwan Jun, Won Kim,
Scientific Reports.2022;[Epub] CrossRef
The Clinical Characteristics of Gestational Diabetes Mellitus in Korea: A National Health Information Database Study
Kyung-Soo Kim, Sangmo Hong, Kyungdo Han, Cheol-Young Park
Endocrinology and Metabolism.2021; 36(3): 628. CrossRef
The risk of pregnancy‐associated hypertension in women with nonalcoholic fatty liver disease
Young Mi Jung, Seung Mi Lee, Subeen Hong, Ja Nam Koo, Ig Hwan Oh, Byoung Jae Kim, Sun Min Kim, Sang Youn Kim, Gyoung Min Kim, Sae Kyung Joo, Sue Shin, Errol R. Norwitz, Chan‐Wook Park, Jong Kwan Jun, Won Kim, Joong Shin Park
Liver International.2020; 40(10): 2417. CrossRef

Clinical Care/Education
Pregnancy Outcomes of Women Additionally Diagnosed as Gestational Diabetes by the International Association of the Diabetes and Pregnancy Study Groups Criteria: Min Hyoung Kim, Soo Heon Kwak, Sung-Hoon Kim, Joon Seok Hong, Hye Rim Chung, Sung Hee Choi, Moon Young Kim, Hak C. Jang; Diabetes Metab J. 2019;43(6):766-775. Published online February 28, 2019; DOI: https://doi.org/10.4093/dmj.2018.0192

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Background

We investigated the pregnancy outcomes in women who were diagnosed with gestational diabetes mellitus (GDM) by the International Association of the Diabetes and Pregnancy Study Groups (IADPSG) criteria but not by the Carpenter-Coustan (CC) criteria.

Methods

A total of 8,735 Korean pregnant women were identified at two hospitals between 2014 and 2016. Among them, 2,038 women participated in the prospective cohort to investigate pregnancy outcomes. Diagnosis of GDM was made via two-step approach with 50-g glucose challenge test for screening followed by diagnostic 2-hour 75-g oral glucose tolerance test. Women were divided into three groups: non-GDM, GDM diagnosed exclusively by the IADPSG criteria, and GDM diagnosed by the CC criteria.

Results

The incidence of GDM was 2.1% according to the CC criteria, and 4.1% by the IADPSG criteria. Women diagnosed with GDM by the IADPSG criteria had a higher body mass index (22.0±3.1 kg/m² vs. 21.0±2.8 kg/m², P<0.001) and an increased risk of preeclampsia (odds ratio [OR], 6.90; 95% confidence interval [CI], 1.84 to 25.87; P=0.004) compared to non-GDM women. Compared to neonates of the non-GDM group, those of the IADPSG GDM group had an increased risk of being large for gestational age (OR, 2.39; 95% CI, 1.50 to 3.81; P<0.001), macrosomia (OR, 2.53; 95% CI, 1.26 to 5.10; P=0.009), and neonatal hypoglycemia (OR, 3.84; 95% CI, 1.01 to 14.74; P=0.049); they were also at an increased risk of requiring phototherapy (OR, 1.57; 95% CI, 1.07 to 2.31; P=0.022) compared to the non-GDM group.

Conclusion

The IADPSG criteria increased the incidence of GDM by nearly three-fold, and women diagnosed with GDM by the IADPSG criteria had an increased risk of adverse pregnancy outcomes in Korea.

Citations

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E.V. Popova-Petrosyan, A.A. Dovgan’, E.R. Kulieva
Russian Bulletin of Obstetrician-Gynecologist.2024; 24(3): 25. CrossRef
2023 Clinical Practice Guidelines for Diabetes Management in Korea: Full Version Recommendation of the Korean Diabetes Association
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Clinical Diabetes & Therapeutics
Progression to Gestational Diabetes Mellitus in Pregnant Women with One Abnormal Value in Repeated Oral Glucose Tolerance Tests: Sunyoung Kang, Min Hyoung Kim, Moon Young Kim, Joon-Seok Hong, Soo Heon Kwak, Sung Hee Choi, Soo Lim, Kyong Soo Park, Hak C. Jang; Diabetes Metab J. 2019;43(5):607-614. Published online February 28, 2019; DOI: https://doi.org/10.4093/dmj.2018.0159

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Abstract PDF PubReader

Background

Women with one abnormal value (OAV) in a 100 g oral glucose tolerance test (OGTT) during pregnancy are reported to have an increased risk of adverse pregnancy outcomes. However, there is limited data about whether women with OAV will progress to gestational diabetes mellitus (GDM) when the OGTT is repeated.

Methods

To identify clinical and metabolic predictors for GDM in women with OAV, we conducted a retrospective study and identified women with OAV in the OGTT done at 24 to 30 weeks gestational age (GA) and repeated the second OGTT between 32 and 34 weeks of GA.

Results

Among 137 women with OAV in the initial OGTT, 58 (42.3%) had normal, 40 (29.2%) had OAV and 39 (28.5%) had GDM in the second OGTT. Maternal age, prepregnancy body mass index, weight gain from prepregnancy to the second OGTT, GA at the time of the OGTT, and parity were similar among normal, OAV, and GDM groups. Plasma glucose levels in screening tests were different (151.8±15.7, 155.8±14.6, 162.5±20.3 mg/dL, P<0.05), but fasting, 1-, 2-, and 3-hour glucose levels in the initial OGTT were not. Compared to women with screen negative, women with untreated OAV had a higher frequency of macrosomia.

Conclusion

We demonstrated that women with OAV in the initial OGTT significantly progressed to GDM in the second OGTT. Clinical parameters predicting progression to GDM were not found. Repeating the OGTT in women with OAV in the initial test may be helpful to detect GDM progression.

Citations

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Analysis of the gut microflora in women with gestational diabetes mellitus
Xuping Wang, Bingfeng Bian, Fuman Du, Chaofeng Xiang, Yu Liu, Na Li, Binhong Duan
International Journal of Diabetes in Developing Countries.2024; 44(S1): 38. CrossRef
Fetal abdominal obesity in women with one value abnormality on diagnostic test for gestational diabetes mellitus
Wonjin Kim, Soo Kyung Park, Yoo Lee Kim, Clive J. Petry
PLOS ONE.2024; 19(6): e0304875. CrossRef
Maternal and fetal outcomes of pregnancies associated with single versus double abnormal values in 100 gr glucose tolerance test
Mohammadali Shahriari, Ali Shahriari, Maryam Khooshideh, Anahita Dehghaninezhad, Arezoo Maleki-Hajiagha, Rana Karimi
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One abnormal value or vomiting after oral glucose tolerance test in pregnancy: incidence and impact on maternal-fetal outcomes
Humberto Navarro-Martinez, Juana-Antonia Flores-Le Roux, Gemma Llauradó, Lucia Gortazar, Antonio Payà, Laura Mañé, Juan Pedro-Botet, David Benaiges
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The association between gestational impaired glucose tolerance and hyperglycemic markers: A prospective study
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Association of abnormal-glucose tolerance during pregnancy with exposure to PM2.5 components and sources
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Postprandial Free Fatty Acids at Mid-Pregnancy Increase the Risk of Large-for-Gestational-Age Newborns in Women with Gestational Diabetes Mellitus
So-Yeon Kim, Young Shin Song, Soo-Kyung Kim, Yong-Wook Cho, Kyung-Soo Kim
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Kyung-Soo Kim, Sangmo Hong, Kyungdo Han, Cheol-Young Park
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Tae Jung Oh, Hak Chul Jang
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Azar Pirdehghan, Mohammad Eslahchi, Farzaneh Esna-Ashari, Shiva Borzouei
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Epidemiology
Oral Glucose Tolerance Testing Allows Better Prediction of Diabetes in Women with a History of Gestational Diabetes Mellitus: Tae Jung Oh, Yeong Gi Kim, Sunyoung Kang, Joon Ho Moon, Soo Heon Kwak, Sung Hee Choi, Soo Lim, Kyong Soo Park, Hak C. Jang, Joon-Seok Hong, Nam H. Cho; Diabetes Metab J. 2019;43(3):342-349. Published online December 7, 2018; DOI: https://doi.org/10.4093/dmj.2018.0086

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Abstract PDF PubReader

Background

We aimed to identify the postpartum metabolic factors that were associated with the development of diabetes in women with a history of gestational diabetes mellitus (GDM). In addition, we examined the role of the oral glucose tolerance test (OGTT) in the prediction of future diabetes.

Methods

We conducted a prospective study of 179 subjects who previously had GDM but did not have diabetes at 2 months postpartum. The initial postpartum examination including a 75-g OGTT and the frequently sampled intravenous glucose tolerance test (FSIVGTT) was performed 12 months after delivery, and annual follow-up visits were made thereafter.

Results

The insulinogenic index (IGI30) obtained from the OGTT was significantly correlated with the acute insulin response to glucose (AIRg) obtained from the FSIVGTT. The disposition indices obtained from the OGTT and FSIVGTT were also significantly correlated. Women who progressed to diabetes had a lower insulin secretory capacity including IGI30, AIRg, and disposition indices obtained from the FSIVGTT and OGTT compared with those who did not. However, the insulin sensitivity indices obtained from the OGTT and FSIVGTT did not differ between the two groups. Multivariate logistic regression analysis showed that the 2-hour glucose and disposition index obtained from the FSIVGTT were significant postpartum metabolic risk factors for the development of diabetes.

Conclusion

We identified a crucial role of β-cell dysfunction in the development of diabetes in Korean women with previous GDM. The 2-hour glucose result from the OGTT is an independent predictor of future diabetes. Therefore, the OGTT is crucial for better prediction of future diabetes in Korean women with previous GDM.

Citations

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The problem of diabetes mellitus in obstetrics
E.V. Popova-Petrosyan, A.A. Dovgan’, E.R. Kulieva
Russian Bulletin of Obstetrician-Gynecologist.2024; 24(3): 25. CrossRef
Postpartum glucose intolerance after gestational diabetes mellitus: tailored prediction according to data-driven clusters and BMI-categories
Anna Lesniara-Stachon, Emmanuel Cosson, Alain Lacroix, Sybille Schenk, Dan Yedu Quansah, Jardena J. Puder
Frontiers in Endocrinology.2024;[Epub] CrossRef
2023 Clinical Practice Guidelines for Diabetes Management in Korea: Full Version Recommendation of the Korean Diabetes Association
Jun Sung Moon, Shinae Kang, Jong Han Choi, Kyung Ae Lee, Joon Ho Moon, Suk Chon, Dae Jung Kim, Hyun Jin Kim, Ji A Seo, Mee Kyoung Kim, Jeong Hyun Lim, Yoon Ju Song, Ye Seul Yang, Jae Hyeon Kim, You-Bin Lee, Junghyun Noh, Kyu Yeon Hur, Jong Suk Park, Sang
Diabetes & Metabolism Journal.2024; 48(4): 546. CrossRef
Diagnosis and management of gestational diabetes mellitus
Tae Jung Oh
Journal of the Korean Medical Association.2023; 66(7): 414. CrossRef
Risk factors for women with gestational diabetes mellitus developing type 2 diabetes and the impact on children's health
Yi‐Ling Chiou, Chich‐Hsiu Hung, Ching‐Yun Yu, Te‐Fu Chan, Ming‐Gwo Liu
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So-Yeon Kim, Young Shin Song, Soo-Kyung Kim, Yong-Wook Cho, Kyung-Soo Kim
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Joon Ho Moon, Hak Chul Jang
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Higher Muscle Mass Protects Women with Gestational Diabetes Mellitus from Progression to Type 2 Diabetes Mellitus
Yujin Shin, Joon Ho Moon, Tae Jung Oh, Chang Ho Ahn, Jae Hoon Moon, Sung Hee Choi, Hak Chul Jang
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Pancreatic fat accumulation is associated with decreased β‐cell function and deterioration in glucose tolerance in Korean adults
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Diabetes/Metabolism Research and Reviews.2021;[Epub] CrossRef
The Clinical Characteristics of Gestational Diabetes Mellitus in Korea: A National Health Information Database Study
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Endocrinology and Metabolism.2021; 36(3): 628. CrossRef
Bihormonal dysregulation of insulin and glucagon contributes to glucose intolerance development at one year post-delivery in women with gestational diabetes: a prospective cohort study using an early postpartum 75-g glucose tolerance test
Riyoko Shigeno, Ichiro Horie, Masaki Miwa, Ayako Ito, Ai Haraguchi, Shoko Natsuda, Satoru Akazawa, Ai Nagata, Yuri Hasegawa, Shoko Miura, Kiyonori Miura, Atsushi Kawakami, Norio Abiru
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Risk factors during the early postpartum period for type 2 diabetes mellitus in women with gestational diabetes
Maki Kawasaki, Naoko Arata, Naoko Sakamoto, Anna Osamura, Siori Sato, Yoshihiro Ogawa, Ichiro Yasuhi, Masako Waguri, Yuji Hiramatsu
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Clinical Care/Education
Feasibility of a Patient-Centered, Smartphone-Based, Diabetes Care System: A Pilot Study: Eun Ky Kim, Soo Heon Kwak, Seungsu Baek, Seung Lyeol Lee, Hak Chul Jang, Kyong Soo Park, Young Min Cho; Diabetes Metab J. 2016;40(3):192-201. Published online April 8, 2016; DOI: https://doi.org/10.4093/dmj.2016.40.3.192

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Background

We developed a patient-centered, smartphone-based, diabetes care system (PSDCS). This study aims to test the feasibility of glycosylated hemoglobin (HbA1c) reduction with the PSDCS.

Methods

This study was a single-arm pilot study. The participants with type 2 diabetes mellitus were instructed to use the PSDCS, which integrates a Bluetooth-connected glucometer, digital food diary, and wearable physical activity monitoring device. The primary end point was the change in HbA1c from baseline after a 12-week intervention.

Results

Twenty-nine patients aged 53.9±9.1 years completed the study. HbA1c and fasting plasma glucose levels decreased significantly from baseline (7.7%±0.7% to 7.1%±0.6%, P<0.0001; 140.9±39.1 to 120.1±31.0 mg/dL, P=0.0088, respectively). The frequency of glucose monitoring correlated with the magnitude of HbA1c reduction (r=–0.57, P=0.0013). The components of the diabetes self-care activities, including diet, exercise, and glucose monitoring, were significantly improved, particularly in the upper tertile of HbA1c reduction. There were no severe adverse events during the intervention.

Conclusion

A 12-week application of the PSDCS to patients with inadequately controlled type 2 diabetes resulted in a significant HbA1c reduction with tolerable safety profiles; these findings require confirmation in a future randomized controlled trial.

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The Level of Autoantibodies Targeting Eukaryote Translation Elongation Factor 1 α1 and Ubiquitin-Conjugating Enzyme 2L3 in Nondiabetic Young Adults: Eunhee G. Kim, Soo Heon Kwak, Daehee Hwang, Eugene C. Yi, Kyong Soo Park, Bo Kyung Koo, Kristine M. Kim; Diabetes Metab J. 2016;40(2):154-160. Published online November 13, 2015; DOI: https://doi.org/10.4093/dmj.2016.40.2.154

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Abstract PDF PubReader

Background

The prevalence of novel type 1 diabetes mellitus (T1DM) antibodies targeting eukaryote translation elongation factor 1 alpha 1 autoantibody (EEF1A1-AAb) and ubiquitin-conjugating enzyme 2L3 autoantibody (UBE2L3-AAb) has been shown to be negatively correlated with age in T1DM subjects. Therefore, we aimed to investigate whether age affects the levels of these two antibodies in nondiabetic subjects.

Methods

EEF1A1-AAb and UBE2L3-AAb levels in nondiabetic control subjects (n=150) and T1DM subjects (n=101) in various ranges of age (18 to 69 years) were measured using an enzyme-linked immunosorbent assay. The cutoff point for the presence of each autoantibody was determined based on control subjects using the formula: [mean absorbance+3×standard deviation].

Results

In nondiabetic subjects, there were no significant correlations between age and EEF1A1-AAb and UBE2L3-AAb levels. However, there was wide variation in EEF1A1-AAb and UBE2L3-AAb levels among control subjects <40 years old; the prevalence of both EEF1A1-AAb and UBE2L3-AAb in these subjects was 4.4%. When using cutoff points determined from the control subjects <40 years old, the prevalence of both autoantibodies in T1DM subjects was decreased (EEFA1-AAb, 15.8% to 8.9%; UBE2L3-AAb, 10.9% to 7.9%) when compared to the prevalence using the cutoff derived from the totals for control subjects.

Conclusion

There was no association between age and EEF1A1-AAb or UBE2L3-AAb levels in nondiabetic subjects. However, the wide variation in EEF1A1-AAb and UBE2L3-AAb levels apparent among the control subjects <40 years old should be taken into consideration when determining the cutoff reference range for the diagnosis of T1DM.

Citations

Citations to this article as recorded by

An autoantigen-ome from HS-Sultan B-Lymphoblasts offers a molecular map for investigating autoimmune sequelae of COVID-19
Julia Y. Wang, Wei Zhang, Victor B. Roehrl, Michael W. Roehrl, Michael H. Roehrl, Mibel Aguilar
Australian Journal of Chemistry.2023; 76(8): 525. CrossRef
An Autoantigen Atlas From Human Lung HFL1 Cells Offers Clues to Neurological and Diverse Autoimmune Manifestations of COVID-19
Julia Y. Wang, Wei Zhang, Victor B. Roehrl, Michael W. Roehrl, Michael H. Roehrl
Frontiers in Immunology.2022;[Epub] CrossRef
Prevalence of antibodies targeting ubiquitin-conjugating enzyme 2L3 and eukaryote translation elongation factor 1 α1 in Chinese Han and American Caucasian populations with type 1 diabetes
Li Qian, Yuxiao Zhu, Yan Luo, Mu Zhang, Liping Yu, Yu Liu, Tao Yang
Endocrine Connections.2022;[Epub] CrossRef
An autoantigen profile of human A549 lung cells reveals viral and host etiologic molecular attributes of autoimmunity in COVID-19
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Journal of Autoimmunity.2021; 120: 102644. CrossRef

Brief Report

Genetics
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing: Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park; Diabetes Metab J. 2015;39(5):439-443. Published online October 22, 2015; DOI: https://doi.org/10.4093/dmj.2015.39.5.439

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Abstract PDF PubReader

Background

Alström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alström syndrome is caused by a mutation in the ALMS1 gene, and Bardet-Biedl syndrome is caused by mutations in BBS1-16 genes. Herein we report genetically confirmed cases of Alström syndrome and Bardet-Biedl syndrome in Korea using whole exome sequencing.

Methods

Exome capture was done using SureSelect Human All Exon Kit V4+UTRs (Agilent Technologies). HiSeq2000 system (Illumina) was used for massive parallel sequencing. Sanger sequencing was used for genotype confirmation and familial cosegregation analysis.

Results

A 21-year old Korean woman was clinically diagnosed with Alström syndrome. She had diabetes, blindness, obesity, severe insulin resistance, and hearing loss. Whole exome sequencing revealed a nonsense mutation in exon 10 of ALMS1 (c.8776C>T, p.R2926X) and a seven base-pair deletion resulting in frameshift mutation in exon 8 (c.6410_6416del, p.2137_2139del). A 24-year-old Korean man had Bardet-Biedl syndrome with diabetes, blindness, obesity, and a history of polydactyly. Whole exome sequencing revealed a nonsynonymous mutation in exon 11 of the BBS1 gene (c.1061A>G, p.E354G) and mutation at the normal splicing recognition site of exon 7 of the BBS1 gene (c.519-1G>T).

Conclusion

We found novel compound heterozygous mutations of Alström syndrome and Bardet-Biedl syndrome using whole exome sequencing. The whole exome sequencing successfully identified novel genetic variants of ciliopathy-associated diabetes.

Citations

Citations to this article as recorded by

Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis
Brais Bea-Mascato, Diana Valverde
Journal of Medical Genetics.2024; 61(1): 18. CrossRef
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Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients
Naglaa M. Kamal, Ahmed N. Sahly, Babajan Banaganapalli, Omran M. Rashidi, Preetha J. Shetty, Jumana Y. Al-Aama, Noor A. Shaik, Ramu Elango, Omar I. Saadah
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Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population
Seung Shin Park, Se Song Jang, Chang Ho Ahn, Jung Hee Kim, Hye Seung Jung, Young Min Cho, Young Ah Lee, Choong Ho Shin, Jong Hee Chae, Jae Hyun Kim, Sung Hee Choi, Hak C Jang, Jee Cheol Bae, Jong Cheol Won, Sung-Hoon Kim, Jong-Il Kim, Soo Heon Kwak, Kyong
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Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes
Sheila Castro-Sánchez, María Álvarez-Satta, Mohamed A. Tohamy, Sergi Beltran, Sophia Derdak, Diana Valverde, Anand Swaroop
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