1 Pulmonary Medicine and Sleep Disorders, All India Institute of Medical Sciences , New Delhi, India .
Metab Syndr Relat Disord. 2013 Oct;11(5):329-35. doi: 10.1089/met.2012.0064. Epub 2013 Jun 4.
The association of the rs738409 polymorphism of patatin-like phospholipase-3 (PNPLA3) with nonalcoholic fatty liver disease (NAFLD) has been suggested in other populations, but not in Asian Indians. We investigated the association of the rs738409 polymorphism of PNPLA3 with clinical, anthropometric, and biochemical profiles in Asian Indians with NAFLD.
In this case-control study, 162 cases and 173 controls were recruited. Abdominal ultrasound, clinical, anthropometry, and biochemical profiles were determined. Fasting insulin levels and values for homeostasis model assessment of insulin resistance (HOMA-IR) were determined. Polymerase chain reaction and restriction fragment length polymorphism of the PNPLA3 gene were performed. The associations of this polymorphism with clinical, anthropometric, and biochemical profiles were investigated.
A higher frequency of C/G and G/G genotypes of the rs738409 polymorphism was obtained in cases as compared to controls (P=0.04), and as a consequence the frequency of the minor allele G was significantly higher in cases (P=0.003). In this study, the G allele was associated with significantly higher fasting insulin (P=0.002), HOMA-IR (P=0.05), alanine transaminase (P=0.003), and aspartate transaminase (P=0.04) values only in cases, but not in the controls. The values of serum triglycerides and total cholesterol were slightly higher in cases with G/C+G/G genotypes but statistically not significant (P>0.05). Using a multivariate logistic regression model after adjusting for age, sex, body mass index, and fasting insulin, subjects with the G/G genotype showed higher risk of NAFLD [odds ratio (OR), 1.98, 95% confidence interval (CI) 1.43-2.73, P=0.04). The relationships of the rs738409 polymorphism with the metabolic parameters were not significant after adjustment for multiple comparisons.
Asian Indians in north India carrying the allele rs738490 of PNPLA3 is predispose to develop NAFLD.
在其他人群中，patatin 样磷脂酶 3（PNPLA3）的 rs738409 多态性与非酒精性脂肪性肝病（NAFLD）有关，但在亚洲印第安人中并非如此。我们研究了 PNPLA3 的 rs738409 多态性与亚洲印第安人 NAFLD 的临床、人体测量和生化特征之间的关系。
在这项病例对照研究中，共招募了 162 例病例和 173 例对照。进行了腹部超声、临床、人体测量和生化特征检查。测定了空腹胰岛素水平和稳态模型评估的胰岛素抵抗（HOMA-IR）值。进行了 PNPLA3 基因的聚合酶链反应和限制性片段长度多态性分析。研究了该多态性与临床、人体测量和生化特征的关系。
与对照组相比，病例组中 rs738409 多态性的 C/G 和 G/G 基因型频率更高（P=0.04），因此，G 等位基因在病例组中的频率明显更高（P=0.003）。在这项研究中，G 等位基因与空腹胰岛素（P=0.002）、HOMA-IR（P=0.05）、丙氨酸转氨酶（P=0.003）和天门冬氨酸转氨酶（P=0.04）的显著升高相关，仅在病例中，而不是在对照组中。携带 G/C+G/G 基因型的病例组的血清甘油三酯和总胆固醇值略高，但无统计学意义（P>0.05）。在调整年龄、性别、体重指数和空腹胰岛素后，使用多元逻辑回归模型，G/G 基因型的患者患 NAFLD 的风险更高[比值比（OR），1.98，95%置信区间（CI）1.43-2.73，P=0.04]。在进行多次比较调整后，rs738409 多态性与代谢参数之间的关系不再显著。
印度北部的亚洲印第安人携带 PNPLA3 的等位基因 rs738490 易患 NAFLD。
