Association of rs738409 Polymorphism in the PNPLA3 Gene with Nonalcoholic Fatty Liver Disease

A.L. Alyavi, PhD, ScD; G.N. Sobirova, PhD; M.M. Karimov, PhD, ScD

The Republican Specialized Scientific-Practical Medical Centre of Therapy and Medical Rehabilitation; Tashkent, Uzbekistan

*Corresponding author: Guzal N..Sobirova, PhD.The Republican Specialized Scientific - Practical Medical Centre of Therapy and Medical Rehabilitation; Tashkent, Uzbekistan. E-mail:


Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease and has an estimated incidence of 20%–30% in the general population and 67%–75% in the obese population. Genetic predisposition can play an important role in development of this disease. Nonsynonymous coding SNP rs738409 C/G (Ile148Met) in the PNPLA3 gene has been found to be associated with the presence of NAFLD in a genome-wide association study. This association has been replicated in several cohorts of different ethnicity, but to date the assessment of this association has not been performed in the Central Asia populations. The purpose of our research was to inves­tigate the association between polymorphic variants of the PNPLA3 (rs738409 C>G) polymorphism and susceptibility to NAFLD in patients of Uzbek nationality. In this case-control study, we recruited 73 NAFLD patients and 37 controls, matched according to age, gender and ethnicity. Genomic DNA was isolated and SNP genotyping was performed by using a polymerase chain reaction with specific primers followed by restriction fragment length polymorphism analysis. Our result showed significant association between the GG genotype and NAFLD (p=0.03,OR = 2.99; 95% CI 1.21–7.42 for the additive model, Cochran-Armitage trend test; p=0.02,OR = 2.99; 95% CI 1.21–7.42 for the recessive model, Pearson’s χ2 test ). These findings supported the idea that the PNPLA3 (rs738409 C>G) polymorphism contributes to the susceptibility to NAFLD. Our data suggest the reasonability of including a PNPLA3 rs738409 SNP test to identify high risk groups for NAFLD in Uzbekistan. 

nonalcoholic fatty liver disease; PNPLA3 (rs738409 C>G) polymorphism.
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