rs601663
This variant is located in the BRAP gene.
▶Research that mentions this SNP (2)
▶A Genome-Wide Assessment of Variability in Human Serum MetabolismAssociationN=891Mun-Gwan Hong et al.(2013)· Human Mutation
A genome-wide association study (GWAS) of serum metabolic quantitative trait loci (mQTLs) in 891 Swedish men identified seven replicating loci (PYROXD2, FADS1, PON1, CYP4F2, UGT1A8, ACADL, and LIPC) with variants showing significant associations with metabolite levels (P = 10^-13 to 10^-91). rs4345897:A>G in PYROXD2 showed the strongest association with caprolactam (P = 2.40 × 10^-91), while rs174549:A>G in FADS1 associated with glycerolphosphocholine (P = 1.91 × 10^-30). Pathway analysis implicated genes with acyl-CoA dehydrogenase activity (ACADS, ACADM, ACAD8, ACAD10, ACAD11, ACOXL) and mQTL SNPs were enriched across GWAS catalog regions.
▶Variants in ACAD10 are associated with type 2 diabetes, insulin resistance and lipid oxidation in Pima IndiansAssociationN=7,224Bian L. et al.(2010)· Diabetologia
This study identified variants in ACAD10 associated with type 2 diabetes in Pima Indians and American Indians. SNP rs659964 showed the strongest association (p=0.0006, OR=1.28 in Pima; p=0.00007 combined) and rs601663 showed modest association (p=0.04, OR=1.14 in Pima; p=0.009 combined). The risk alleles were associated with reduced lipid oxidation rates and increased insulin resistance, supporting the hypothesis that ACAD10 variation increases diabetes susceptibility through impaired insulin sensitivity via abnormal lipid metabolism.
About BRAP
The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]
View all BRAP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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