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Association of the Rs738409 Polymorphism in PNPLA3 with Development and Severity of Nonalcoholic Fatty Liver Disease
Mousumi Das1, Arindam Biswas2, Soumik Goswami3
1Department of Biochemistry, Nil Ratan Sircar Medical College and Hospital, Kolkata, West Bengal, India.
Introduction:
Nonalcoholic fatty liver disease (NAFLD) is a common disorder with a complex aetiology. The polymorphic variant rs738409 in the PNPLA3 gene has been reported to be associated with NAFLD among several ethnic populations. The present study aims to identify the potential association of rs738409 with NAFLD and correlate it with disease severity and biochemical parameters.
Methods:
The Ile148Met variant was genotyped using polymerase chain reaction (PCR)-RFLP-based techniques among 99 NAFLD cases and 100 ethnicity-matched controls.
Results:
We identified statistically significant differences in genotype and allele frequencies of rs738409 between cases and controls. The risk genotype and allele were associated with higher FIB-4 and controlled attenuation parameter (CAP) scores but not with liver stiffness measurement (LSM) values. The mean CAP score was significantly higher among carriers of the risk allele.
Conclusion:
The Ile148Met variant of the PNPLA3 gene is a predisposing risk factor for the development of NAFLD and is associated with increased severity of hepatic steatosis among the ethnic Bengali population of West Bengal.
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