Rooki Hassan, Haerian Monir-Sadat, Azimzadeh Pedram, Ebrahimi Mahmoud, Mirhafez Reza, Ferns Gordon, Ghayour-Mobarhan Majid, Zali Mohammad-Reza
Gastroenterology and Liver Diseases Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Cardiovascular Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Indian J Hum Genet. 2013 Oct;19(4):423-9. doi: 10.4103/0971-6866.124370.
Peroxisome proliferator activator receptor gamma (PPARγ) is a nuclear transcription factor regulating multiple genes involved in cell growth, differentiation, carbohydrate and lipid metabolism and energy production. Several genetic variations in the PPARγ gene have been identified to be associated with diabetes, obesity, dyslipidemia, insulin resistance, metabolic syndrome and coronary artery disease. The present study was designed to explore the distribution of two common single nucleotide polymorphisms of the PPARγ gene (C1431T and Pro12Ala) in an Iranian population.
Genotype frequencies for these two polymorphisms were compared for 160 healthy Iranian individuals with reports from other populations. The Genotyping was performed using real-time polymerase chain reaction.
The genotype distribution of the C1431T PPARγ polymorphism was 0.869 for the CC genotype, 0.119 for the CT genotype and 0.013 for uncommon TT genotype. Allelic frequencies were 0.93 for C and 0.07 for T allele respectively. For the Pro12Ala polymorphism of PPARγ gene, genotypic distributions and allelic frequencies were, 0.813 for CC, 0.181 for CG and 0.06 for GG and 0.903 for C and 0.097 for G respectively. Allelic and genotypic frequencies for both polymorphisms of PPARγ gene were in Hardy-Weinberg equilibrium.
Iran is a country with an ethnically diverse population and a comparison of allelic and genotypic frequencies of PPARγ C1431T and Pro12Ala polymorphisms between our population and others showed significant differences.
过氧化物酶体增殖物激活受体γ（PPARγ）是一种核转录因子，可调节参与细胞生长、分化、碳水化合物和脂质代谢以及能量产生的多个基因。已确定PPARγ基因中的几种遗传变异与糖尿病、肥胖症、血脂异常、胰岛素抵抗、代谢综合征和冠状动脉疾病有关。本研究旨在探讨PPARγ基因的两种常见单核苷酸多态性（C1431T和Pro12Ala）在伊朗人群中的分布情况。
将160名健康伊朗个体的这两种多态性的基因型频率与其他人群的报告进行比较。使用实时聚合酶链反应进行基因分型。
C1431T PPARγ多态性的基因型分布为CC基因型0.869，CT基因型0.119，罕见的TT基因型0.013。等位基因频率分别为C为0.93，T为0.07。对于PPARγ基因的Pro12Ala多态性，基因型分布和等位基因频率分别为CC为0.813，CG为0.181，GG为0.06，C为0.903，G为0.097。PPARγ基因两种多态性的等位基因和基因型频率均处于哈迪-温伯格平衡。
伊朗是一个民族多样化的国家，我们人群与其他人群之间PPARγ C1431T和Pro12Ala多态性的等位基因和基因型频率比较显示出显著差异。
