rs246079
This variant is located in the ACACB gene.
▶Research that mentions this SNP (1)
▶Genetic polymorphisms of the DNA repair gene UNG are associated with the susceptibility of rheumatoid arthritisAssociationN=375Sui-Foon Lo et al.(2012)· Rheumatology International
This case-control study investigated associations between two UNG (uracil-DNA glycosylase) gene polymorphisms and rheumatoid arthritis susceptibility in a Taiwan Han Chinese population (183 RA patients, 192 controls). The G allele at rs246079 conferred increased RA risk (OR=1.77, 95% CI=1.29-2.42, P=3.05×10⁻⁴), and the Ht1 haplotype (AA) was protective (OR=0.59, P=0.011), while the Ht2 haplotype (AG) posed additional risk (P=0.042).
About ACACB
Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022]
View all ACACB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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