Kruzliak Peter, Haley Andreana P, Starcevic Jovana Nikolajevic, Gaspar Ludovit, Petrovic Daniel
Department of Cardiovascular Diseases, International Clinical Research Center, St Anne's University Hospital and Masaryk University, Brno, Czech Republic.
Department of Psychology, The University of Texas, Austin, TX, USA.
Cardiovasc Diabetol. 2015 Apr 28;14:42. doi: 10.1186/s12933-015-0197-0.
The aim of this study was to clarify whether common single nucleotide polymorphisms (SNPs) of the Peroxisome Proliferator-Activated Receptor-γ (PPAR-γ) gene (rs1801282) and the Peroxisome Proliferator-Activated Receptor-γ Coactivator-1 (PGC-1α) gene (rs8192673) are associated with obesity indexes (BMI, waist circumference) in subjects with type 2 diabetes mellitus (T2DM) in Caucasian population. The second aim was to find an association of both polymorphisms with T2DM.
Two exonic SNPs of both genes rs1801282 of the PPAR-γ gene and rs8192673 of the PGC-1α gene) were genotyped in 881 unrelated Slovene subjects (Caucasians) with T2DM and in 348 subjects without T2DM (control subjects).
Female homozygotes with the CC genotype of the rs8192673 had higher waist circumference in comparison with subjects with other genotypes. Homozygotes (females, males) with wild allele (Pro) of the rs1801282 (Pro12Ala polymorphism) had higher waist circumference in comparison with subjects with other genotypes. In the study, there were no differences in the distributions of the rs8192673 and the rs1801282 genotypes between patients with T2DM and controls. Linear regression analyses for both polymorphisms were performed and demonstrated an independent effect of the rs1801282 of the PPAR-γ on waist circumference in subjects with T2DM, whereas an independent effect on waist circumference was not demonstrated for the rs8192673 of the PGC-1α gene.
In a large sample of the Caucasians the rs8192673 of the PGC-1α gene and the rs1801282 of the PPAR-γ gene were associated with waist circumference in subjects with T2DM.
本研究的目的是阐明过氧化物酶体增殖物激活受体γ（PPAR-γ）基因（rs1801282）和过氧化物酶体增殖物激活受体γ共激活因子1（PGC-1α）基因（rs8192673）的常见单核苷酸多态性（SNP）是否与白种人群2型糖尿病（T2DM）患者的肥胖指标（体重指数、腰围）相关。第二个目的是找出这两种多态性与T2DM之间的关联。
对881名无亲缘关系的斯洛文尼亚T2DM患者（白种人）和348名无T2DM的受试者（对照受试者）进行PPAR-γ基因的rs1801282和PGC-1α基因的rs8192673这两个外显子SNP的基因分型。
rs8192673的CC基因型女性纯合子的腰围高于其他基因型的受试者。rs1801282（Pro12Ala多态性）野生等位基因（Pro）的纯合子（女性、男性）的腰围高于其他基因型的受试者。在本研究中，T2DM患者和对照之间rs8192673和rs1801282基因型的分布没有差异。对这两种多态性进行线性回归分析，结果显示PPAR-γ的rs1801282对T2DM患者的腰围有独立影响，而PGC-1α基因的rs8192673对腰围没有显示出独立影响。
在大量白种人样本中，PGC-1α基因的rs8192673和PPAR-γ基因的rs1801282与T2DM患者的腰围相关。
