Polymorphisms rs55710213 and rs56334587 regulate SCD1 expression by modulating HNF4A binding

The stearoyl-CoA desaturase 1 (SCD1) gene at 10q24.31 encodes the rate limiting enzyme SCD1 that catalyzes biosynthesis of monounsaturated fatty acids (MUFAs) from saturated (SFAs). Dysregulated activity has been observed in many human diseases including non-alcoholic liver disease (NAFLD), obesity, hypertension, hyperlipidemia, metabolic syndrome and several types cancer. HNF4A is a central regulator glucose lipid metabolism previous studies suggested it deeply involved regulating liver. However, underlying mechanisms on whether how regulated by have not explored detail. In this study, we found regulates expression directly binding to key regulatory regions locus. Knocking down significantly downregulated SCD1. Variants rs55710213 rs56334587 intron 5 reside canonical site. GG haplotype associated with decreased disrupting HNF4A, which further enhancer expression. conclusion, our study demonstrated may be helpful understanding altered pathways dysregulated or both.