Delik Anıl, Akkız Hikmet, Dinçer Sadık
Department of Gastroenterology, Faculty of Medicine, Çukurova University, 01330, Adana, Turkey.
Department of Biology, Faculty of Natural and Applied Science, Çukurova University, 01330, Adana, Turkey.
Indian J Gastroenterol. 2020 Feb;39(1):84-91. doi: 10.1007/s12664-020-01026-x. Epub 2020 Apr 24.
Non-alcoholic fatty liver disease (NAFLD) is often associated with metabolic syndrome (type 2 diabetes, hypertension, hypertriglyceridemia, insulin resistance, and obesity). NAFLD is multi-factorial in pathogenesis with some genetic predisposition. The variant patatin-like phospholipase domain-containing protein 3 (PNPLA3) is known to be an independent risk factor for hepatocellular cancer (HCC). The aim of this study was to investigate the role of PNPLA3 polymorphism as the risk factor for NAFLD.
Patients had histological, ultrasonographic, biopsy evidence of NAFLD (n=248) and 81 controls were studied for PNPLA3 polymorphism. PNPLA3 genotyping was done from peripheral blood DNA by real-time polymerase chain reaction (RT-PCR).
PNPLA3 genotyping of the groups NAFLD (CC [n = 76], CG [n = 83], GG [n = 89]) and control (CC [n= 42], CG [n = 22], GG [n = 17]) was determined. In the patient group, the G allele was 261 (52.63%) and the C allele was 235 (47.37%), whereas in the control group, the G allele was 56 (34.54%) and the C allele was 106 (65.43%). In our study, 53 out of 174 women had GG allele and 54 out of 155 men had GG allele.
The findings suggest that there is a predominant relationship between men with PNPLA3 I148M variant with NAFLD in women. Patients with NAFLD carrying PNPLA3 rs738409 G>C variant are at higher risk of NAFLD.
非酒精性脂肪性肝病（NAFLD）常与代谢综合征（2型糖尿病、高血压、高甘油三酯血症、胰岛素抵抗和肥胖）相关。NAFLD发病机制具有多因素性，存在一定的遗传易感性。已知含patatin样磷脂酶结构域蛋白3（PNPLA3）变体是肝细胞癌（HCC）的独立危险因素。本研究旨在探讨PNPLA3基因多态性作为NAFLD危险因素的作用。
对有NAFLD组织学、超声、活检证据的患者（n = 248）和81名对照者进行PNPLA3基因多态性研究。通过实时聚合酶链反应（RT-PCR）从外周血DNA进行PNPLA3基因分型。
确定了NAFLD组（CC [n = 76]，CG [n = 83]，GG [n = 89]）和对照组（CC [n = 42]，CG [n = 22]，GG [n = 17]）的PNPLA3基因分型。在患者组中，G等位基因有261个（52.63%），C等位基因有235个（47.37%），而在对照组中，G等位基因有56个（34.54%），C等位基因有106个（65.43%）。在我们的研究中，174名女性中有53名有GG等位基因，155名男性中有54名有GG等位基因。
研究结果表明，携带PNPLA3 I148M变体的男性与女性NAFLD之间存在显著关系。携带PNPLA3 rs738409 G>C变体的NAFLD患者患NAFLD的风险更高。
