title: Genetic variants in PNPLA3 and risk of non-alcoholic fatty liver disease in a Han Chinese population.
abstract: We investigated the possible association between genetic variants in the Patatin like phospholipase-3 (PNPLA3) gene and nonalcoholic fatty liver disease (NAFLD) in a Han Chinese population. We evaluated twelve tagging single-nucleotide polymorphisms (tSNPs) of the PNPLA3 gene in a frequency matched case-control study from Fuzhou city of China (553 cases, 553 controls). In the multivariate logistic regression analysis, the rs738409 GG or GC, and rs139051 TT genotypes were found to be associated with increased risk of NAFLD, and a significant trend of increased risk with increasing numbers of risk genotype was observed in the cumulative effect analysis of these single nucleotide polymorphisms. Furthermore, haplotype association analysis showed that, compared with the most common haplotype, the CAAGAATGCGTG and CGAAGGTGTCCG haplotypes conferred a statistically significant increased risk for NAFLD, while the CGGGAACCCGCG haplotype decreased the risk of NAFLD. Moreover, rs738409 C>G appeared to have a multiplicative joint effect with tea drinking (P<0.005) and an additive joint effect with obesity (Interaction contrast ratio (ICR) = 2.31, 95% CI: 0.7-8.86), hypertriglyceridemia (ICR = 3.07, 95% CI: 0.98-5.09) or hypertension (ICR = 1.74, 95% CI: 0.52-3.12). Our data suggests that PNPLA3 genetic polymorphisms might influence the susceptibility to NAFLD development independently or jointly in Han Chinese.
authors.affiliation: Key Laboratory of Ministry of Education for Gastrointestinal Cancer, Research Center of Molecular Medicine, Fujian Medical University, Fuzhou, China.
authors.forename: Xian-E
authors.initials: XE
authors.lastname: Peng
authors.forename: Yun-Li
authors.initials: YL
authors.lastname: Wu
authors.forename: Shao-Wei
authors.initials: SW
authors.lastname: Lin
authors.forename: Qing-Qing
authors.initials: QQ
authors.lastname: Lu
authors.forename: Zhi-Jian
authors.initials: ZJ
authors.lastname: Hu
authors.forename: Xu
authors.initials: X
authors.lastname: Lin
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D005234:Fatty Liver / Q000150:complications / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D006973:Hypertension / Q000150:complications / Q000201:enzymology / Q000208:ethnology / Q000235:genetics; D015228:Hypertriglyceridemia / Q000150:complications / Q000201:enzymology / Q000208:ethnology / Q000235:genetics; D008049:Lipase / Q000235:genetics* / Q000378:metabolism; D008099:Liver / Q000201:enzymology* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D065626:Non-alcoholic Fatty Liver Disease; D009765:Obesity / Q000150:complications / Q000201:enzymology / Q000208:ethnology / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D013662:Tea; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent
chemical_list: D008049:Lipase; D008565:Membrane Proteins; D013662:Tea; C533682:PNPLA3 protein, human; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent