Islek Eylul Ece, Sazci Ali, Ozel Mavi Deniz, Aygun Cem
1 Department of Medical Biology and Genetics, University of Kocaeli , Kocaeli, Turkey .
Genet Test Mol Biomarkers. 2014 Jul;18(7):489-96. doi: 10.1089/gtmb.2014.0019. Epub 2014 May 15.
In this study, we report the association of the rs738407, rs738409, and rs2896019 variants of the patatin-like phospholipase domain-containing protein 3 (PNPLA3) (adiponutrin) gene with nonalcoholic steatohepatitis (NASH) (χ(2)=14.528, p=0.001; χ(2)=18.882, p=0.000; χ(2)=7.449, p=0.024, respectively) in 80 patients with NASH and 303 healthy controls. We genotyped the subjects using three polymerase chain reaction-restriction fragment length polymorphism methods developed in our laboratory. Our findings confirm the findings of the recent case-control and genome-wide association studies carried out in different populations around the world. Thus, the three variants in PNPLA3 gene may be a genetic risk factor for NASH.
在本研究中，我们报告了80例非酒精性脂肪性肝炎（NASH）患者和303例健康对照中，含patatin样磷脂酶结构域蛋白3（PNPLA3）（脂肪营养蛋白）基因的rs738407、rs738409和rs2896019变异与非酒精性脂肪性肝炎（NASH）的关联（χ(2)分别为14.528，p = 0.001；χ(2)为18.882，p = 0.000；χ(2)为7.449，p = 0.024）。我们使用在我们实验室开发的三种聚合酶链反应-限制性片段长度多态性方法对受试者进行基因分型。我们的研究结果证实了最近在世界各地不同人群中进行的病例对照研究和全基因组关联研究的结果。因此，PNPLA3基因中的这三种变异可能是非酒精性脂肪性肝炎的遗传危险因素。
