rs13160562
This is a downstream gene variant variant in the ERAP1 gene.
▶Research that mentions this SNP (1)
▶Genome-wide Association Study of Alcohol DependenceAssociationN=3,792Treutlein J. et al.(2009)· Archives of General Psychiatry
Genome-wide association study and replication study identifying susceptibility genes for alcohol dependence in 1460 German male patients with early-onset alcohol dependence and 2332 controls. Two SNPs met genome-wide significance: rs7590720 (p=9.72×10⁻⁹) and rs1344694 (p=1.69×10⁻⁸) on chromosome 2q35 near the PECR gene. Nine additional SNPs showed significant replication in genes including CDH13, ADH1C, CAST, and ERAP1.
About ERAP1
The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
View all ERAP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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