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2 "Pro12Ala polymorphism"
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Association Study of the Peroxisome Proliferators-Activated Receptor gamma2 Pro12Ala Polymorphism with Diabetic Nephropathy.
Kyu Ho Lee, Hee Seog Jeong, Khan Young Choi, Hyun Kim, Dal Sic Lee, Ji Young Kang, Hyun Jeong Jeon, Tae Keun Oh
Korean Diabetes J. 2008;32(5):402-408.   Published online October 1, 2008
DOI: https://doi.org/10.4093/kdj.2008.32.5.402
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BACKGROUND
Peroxisome proliferators-activated receptor gamma (PPARgamma) is a member of the nuclear hormone receptor superfamily of ligand-activated transcription factors and known to play a role in regulating the expression of numerous genes involved in lipid metabolism, metabolic syndrome, inflammation, and atherosclerosis. The PPARgamma2 Pro12Ala polymorphism has recently been shown to be associated with diabetic nephropathy. In this study, we evaluated the relationship between PPARgamma2 Pro12Ala polymorphism and type 2 diabetic nephropathy whose duration of diabetes was over 10 years. METHODS: We conducted a case-control study, which enrolled 367 patients with type 2 diabetes. Genotyping of PPARgamma2 Pro12Ala polymorphism was performed using polymerase chain reaction followed by digestion with Hae III restriction enzyme. RESULTS: The genotype or allele frequencies of PPARgamma2 Pro12Ala polymorphism were not significantly different in diabetic patients with or without diabetic nephropathy. The genotype frequencies in terms of diabetic retinopathy and macrovascular complications such as coronary artery disease or stroke were not different either. Interestingly, nephropathy patients with Ala/Pro genotype showed lower C-peptide levels than those of Pro/Pro genotype. CONCLUSION: Our results suggest that PPARgamma2 Pro12Ala polymorphism is not associated with diabetic nephropathy in type 2 diabetic patients.
The Association of Pro12Ala Polymorphism in PPAR-gamma Gene with Coronary Artery Disease in Korean Subjects.
Chang Hee Kwon, Eun Jung Rhee, Se Yeon Kim, Eun Ran Kim, Chang Uk Chon, Chan Hee Jung, Ji Ho Yun, Byung Jin Kim, Ki Chul Sung, Bum Su Kim, Won Young Lee, Ki Won Oh, Jin Ho Kang, Sun Woo Kim, Man Ho Lee, Jung Roe Park
Korean Diabetes J. 2006;30(2):122-129.   Published online March 1, 2006
DOI: https://doi.org/10.4093/jkda.2006.30.2.122
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BACKGROUND
PPAR-gamma, a member of nuclear family, which is involved in the differentiation of adipose tissue, is reported to be associated in the pathogenesis of type 2 diabetes mellitus, insulin resistance and atherosclerosis. We conducted a research to see whether the prevalence of coronary artery disease is associated with Pro12Ala polymorphism in exon B of PPAR-gamma in Korean adults. METHODS: The study was conducted in 161 subjects (97 males, 64 females, mean age 57 year old) who underwent coronary angiogram due to chest pain. We assessed cardiovascular risk factors in all subjects, such as blood pressure, body mass index (BMI), fasting blood sugar and serum lipid profiles. Subjects were divided into four groups as normal, 1-vessel, 2-vessel and 3-vessel disease according to the number of stenosed coronary arteries. Genotypings of Pro12Ala polymorphism were done with Real-time polymerase chain reaction. RESULTS: Allelic frequency for proline was 0.957 and 0.043 for alanine, and they were in compliance with Hardy-Weinberg equilibrium (P = 0.85). 79 subjects (43.5%) had normal coronary artery, 52 subjects (31%), 1-vessel disease, 24 subjects (14.9%), 2-vessel disease and 15 subjects (9.3%), 3-vessel disease. When the cardiovascular risk factors were compared among these four groups, there were no meaningful differences except the age and high-density lipoprotein cholesterol levels, which were lost after adjustment for age and BMI. There were no significant differences in the prevalence or severity of coronary artery diseases according to the different genotypes of Pro12Ala polymorphism. CONCLUSIONS: There was no significantassociation between Pro12Ala polymorphism in exon B of PPAR-gamma and prevalence or severity of coronary artery disease in Korean adults. It is considered that further studies on the correlation between Pro12Ala polymorphism and coronary artery disease should be carried out in larger Korean population in the future

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