Wang Ying, Tong Jing, Chang Bing, Wang Bai-Fang, Zhang Dai, Wang Bing-Yuan
Department of Gastroenterology, The First Affiliated Hospital of China Medical University , Shenyang, People's Republic of China .
Genet Test Mol Biomarkers. 2014 Sep;18(9):653-7. doi: 10.1089/gtmb.2014.0116. Epub 2014 Jul 3.
This study aims at investigating the relationship of SREBP-2 rs2228314 G>C polymorphism with the risk of nonalcoholic fatty liver disease (NAFLD) in a Han Chinese population.
This case-control study was conducted at the First Affiliated Hospital of China Medical University. Three-hundred subjects who met the diagnostic criteria of NAFLD and had typical clinical and ultrasonographic findings were placed in the case group. There were 160 matched healthy controls in the control group. A common single nucleotide polymorphism (SNP) (rs2228314 G>C) in the SREBP-2 gene was tested. Genetic analyses were performed using genomic DNA extracted from peripheral blood leukocytes. Polymerase chain reaction-restriction fragment length polymorphism was applied to detect SNP.
Our results indicated that the GG genotype and G carrier (CG+GG) of rs2228314 G>C polymorphism in the SREBP-2 gene were strongly associated with susceptibility to NAFLD (both p<0.001). However, there was no significant difference in the frequency of G allele between NAFLD patients and healthy controls (p=0.328). Multivariate logistic regression analysis revealed that GG genotype, G carrier, body mass index, high-density lipoprotein cholesterol, total cholesterol, alanine aminotransferase, and γ-glutamyl-transferase might be associated with an increased risk of NAFLD (all p<0.05).
The results of this study provide evidence that the GG genotype and G carrier (CG+GG) of rs2228314 G>C polymorphism in the SREBP-2 gene may increase the risk of NAFLD.
本研究旨在探讨汉族人群中SREBP - 2基因rs2228314 G>C多态性与非酒精性脂肪性肝病（NAFLD）风险的关系。
本病例对照研究在中国医科大学附属第一医院进行。300名符合NAFLD诊断标准且有典型临床和超声检查结果的受试者被纳入病例组。对照组有160名匹配的健康对照。检测SREBP - 2基因中的一个常见单核苷酸多态性（SNP）（rs2228314 G>C）。使用从外周血白细胞中提取的基因组DNA进行基因分析。应用聚合酶链反应 - 限制性片段长度多态性检测SNP。
我们的结果表明，SREBP - 2基因rs2228314 G>C多态性的GG基因型和G携带者（CG + GG）与NAFLD易感性密切相关（均p<0.001）。然而，NAFLD患者和健康对照之间G等位基因频率无显著差异（p = 0.328）。多因素逻辑回归分析显示，GG基因型、G携带者、体重指数、高密度脂蛋白胆固醇、总胆固醇、丙氨酸氨基转移酶和γ-谷氨酰转移酶可能与NAFLD风险增加相关（均p<0.05）。
本研究结果提供了证据，表明SREBP - 2基因rs2228314 G>C多态性的GG基因型和G携带者（CG + GG）可能增加NAFLD风险。
