Gene polymorphisms of desaturase enzymes of polyunsaturated fatty acid metabolism and adiponutrin and the increased risk of nonalcoholic fatty liver disease

• Published in: Meta Gene 2017-02, Vol.11, p.152-156
• Main Authors: Vernekar, Manvi, Amarapurkar, Deepak, Joshi, Kalpana, Singhal, Rekha
• Format: Article
• Language: English
• Subjects: PNPLA3; PUFA metabolism; rs3834458 SNP
• ISSN: 2214-5400; 2214-5400
• DOI: 10.1016/j.mgene.2016.08.009

Nonalcoholic fatty liver disease (NAFLD) is considered to be the hepatic manifestation of the metabolic syndrome (MetS). Adiponutrin gene polymorphisms have been associated with NAFLD worldwide. Polyunsaturated fatty acids (PUFAs) have been studied to have anti-inflammatory effects and plasma lipid lowering properties. PUFAs are endogenously synthesized with the help of delta-6-desaturase and delta-5-desaturase enzymes. They are encoded by FADS2 and FADS1 genes respectively. Polymorphisms in FADS genes have been implicated in diseases associated with the MetS like acute coronary syndrome and coronary artery disease. This is the first study aimed at investigating the association of FADS gene polymorphisms with NAFLD. Additionally, we confirm the association of adiponutrin gene polymorphism with NAFLD in Asian Indians. Single nucleotide polymorphisms of FADS2 rs3834458 and rs66698963, FADS1 rs174547 and adiponutrin gene rs738409 were analyzed. Two hundred and thirty patients were genotyped by polymerase chain reaction-restriction fragment length polymorphism. Logistic regression was carried out to determine the association of genotypes with disease status after adjusting for confounding variables. It was observed that T/del, del/del genotypes of rs383445; I/D, D/D genotypes of rs66698963 and C/C, C/G genotypes of rs738409 were significantly associated with NAFLD. After adjusting for confounders, rs3834458 T/del and G/G minor allele carriers of rs738409 were found to increase the risk of NAFLD significantly. In conclusion, this study showed a novel association of FADS2 gene polymorphisms with NAFLD. It also verified the previously established association of rs738409 polymorphism with NAFLD. •NAFLD susceptibility may be dependent on genetic factors.•Adiponutrin (PNPLA3) gene polymorphisms enhance the risk of NAFLD in urban Asian Indians.•FADS gene polymorphisms of polyunsaturated fatty acid metabolism are positively associated with predisposition of NAFLD.•Minor allele carriers of Rs3834458 SNP of FADS2 gene may have an increased risk of NAFLD.