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Title: Genetic variants of NAFLD in an urban Sri Lankan community
Authors: Niriella, M.A.
Kasturiratne, A.
Akiyama, K.
Takeuchi, F.
Isono, M.
Dassanayake, A.S.
de Silva, A.P.
Wickremasinghe, A.R.
Kato, N.
de Silva, H.J.
Keywords: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease-genetics
Non-alcoholic Fatty Liver Disease-diagnosis
Urban Population
Cohort Studies
Fatty Liver
Issue Date: 2013
Publisher: Wiley Blackwell Scientific Publications
Citation: Journal of Gastroenterology and Hepatology. 2013; 28(Suppl 3):184
Abstract: OBJECTIVE: Recently, genome-wide association studies (GWAS) have successfully identified loci associated with susceptibility to non-alcoholic fatty liver disease (NAFLD) in populations of European descent. 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 (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 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 of further large-scale study on genetic variants in diverse populations to better understand the pathophysiology of NAFLD.
Description: Poster Session Abstract (P0418), Gastro 2013 APDW/WCOG Shanghai, Asian Pacific Digestive Week 2013 / World Congress of Gastroenterology, September 21–24, 2013, Shanghai Expo Center, Shanghai, China
ISSN: 0815-9319 (Print)
1440-1746 (Electronic)
Appears in Collections:Conference Papers

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