通过 PNPLA3 发现墨西哥人群易患非酒精性脂肪性肝病的遗传易感性证据增多。
More Evidence for the Genetic Susceptibility of Mexican Population to Nonalcoholic Fatty Liver Disease through PNPLA3.
机构信息
Liver Research Unit, Medica Sur Clinic & Foundation, Mexico City.
Unit of Genomic, National Institute of Genomic, Mexico City, Mexico.
出版信息
Ann Hepatol. 2018 Mar 1;17(2):250-255. doi: 10.5604/01.3001.0010.8644.
BACKGROUND
The gene for patatin-like phospholipase domain containing 3 (PNPLA3) is associated with nonalcoholic fatty liver disease (NAFLD) development. We previously found that Mexican indigenous population had the highest frequency reported of the PNPLA3 148M risk allele. Further, we observed a relationship between M148M genotype with elevated ALT levels in individuals with normal weight, overweight and obese. We sought to investigate whether PNPLA3 polymorphism is associated with NAFLD development in Mexicans.
MATERIAL AND METHODS
We enrolled 189 Mexican patients with NAFLD and 201 healthy controls. Anthropometric, metabolic, and biochemical variables were measured, and rs738409 (Ile148Met substitution) polymorphism was genotyped by sequencing.
RESULTS
Logistic regression analysis, using a recessive model, suggested that PNPLA3 polymorphism in Mexican population is significantly associated (OR = 1.711, 95% CI: 1.014-2.886; P = 0.044) with NAFLD.
CONCLUSIONS
The PNPLA3 gene is associated with NAFLD in Mexican population. More studies are required to explain the high prevalence of PNPLA3 polymorphism in Mexican-Americans, Mexican-Indians, and Mexican-Mestizos.
背景
载脂蛋白样磷脂酶域包含 3 号基因（PNPLA3）与非酒精性脂肪性肝病（NAFLD）的发展有关。我们之前发现，墨西哥土著人群拥有报告的 PNPLA3 148M 风险等位基因的最高频率。此外，我们观察到 M148M 基因型与体重正常、超重和肥胖个体的 ALT 水平升高之间存在关系。我们试图研究 PNPLA3 多态性是否与墨西哥人的 NAFLD 发展有关。
材料和方法
我们招募了 189 名患有 NAFLD 的墨西哥患者和 201 名健康对照者。测量了人体测量、代谢和生化变量，并通过测序对 rs738409（Ile148Met 取代）多态性进行了基因分型。
结果
使用隐性模型的逻辑回归分析表明，墨西哥人群的 PNPLA3 多态性与 NAFLD 显著相关（OR=1.711，95%CI：1.014-2.886；P=0.044）。
结论
PNPLA3 基因与墨西哥人群的 NAFLD 有关。需要进一步的研究来解释墨西哥裔美国人、墨西哥印第安人和墨西哥混血儿中 PNPLA3 多态性的高发率。
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