No large-scale genetic studies have been performed thus far in South Asian populations. Therefore, as part of a community-based cohort study in an urban adult population of Sri Lankans, we investigated associations of genetic variants with NAFLD, diagnosed on established ultrasound criteria, and its related phenotypes. Methods: We selected 10 single
nucleotide polymorphisms (SNPs), all previously reported to be associated with NAFLD in populations of European and/or South Asian ancestry, for a case-control replication study. They included loci derived from GWAS [PNPLA3 (rs738409), LYPLAL1 (rs12137855), GCKR (rs780094), PPP1R3B C646 solubility dmso (rs4240624) and NCAN (rs2228603)] plus those from candidate gene studies [APOC3 (rs2854117 and rs2854116), ADIPOR2 (rs767870)
and STAT3 (rs6503695 and rs9891119)]. Genotype data of 2988 participants were used for the 3-deazaneplanocin A nmr analysis. Results: A significant NAFLD association was observed for PNPLA3 (rs738409) [OR = 1.25, 95% CI 1.08–1.44, P = 0.003)]; rs738409 was also associated with a trend towards lower serum triglycerides APOC3 variants were significantly (P = 7.3–7.5 × 10–8) associated with higher triglycerides, but not with NAFLD (OR = 0.86). Apart from SNP–lipid associations previously reported at the GCKR, PPP1R3B and NCAN loci, there were no other prominent associations. Conclusion: Our data confirm that the PNPLA3 gene variant is significantly associated with NAFLD in the general Sri Lankan population but could not replicate previously-reported disease associations at other loci, reinforcing the importance 上海皓元 of further large-scale study on genetic variants in diverse populations to better understand the pathophysiology of NAFLD. Key Word(s): 1. Fatty liver; 2. Genetics; 3. Genetic variants; Presenting
Author: JINHUI WANG Additional Authors: YUNING CHEN, JIE CHEN, MINHU CHEN Corresponding Author: JINHUI WANG Affiliations: the first affilliated hospital of Sun Yatsen University; the first affiliated hospital of Sun Yet-Sen University; the fisrt affiliated hospital of Sun Yatsen University Objective: Background: it is still controversy and unknown about the profile of clinical characters and prognosis among subtypes of Wilson’s disease (WD), as well as its associations with the sera biochemical index. Aim: to learn and evaluate the difference of the clinical characters and prognosis among the different subtypes of Wilson’s disease (WD).