rs1887346
This variant is located in the KLF12 gene.
▶Research that mentions this SNP (1)
▶Genome‐wide association study of rheumatoid arthritis in the Spanish population:
KLF12
as a risk locus for rheumatoid arthritis susceptibilityAssociationN=1,604Antonio Julià et al.(2008)· Arthritis & Rheumatism
A two-stage genome-wide association study (GWAS) in Spanish population identified KLF12 as a new susceptibility locus for rheumatoid arthritis, with rs1324913 showing stronger association (P=0.01) in replication than PTPN22 rs2476601. Joint analysis with three previous GWAS studies confirmed KLF12 and PTPRT as commonly associated loci, with KLF12 SNP rs1887346 and rs9318228 showing P values of 6.03×10⁻⁵ and 3.66×10⁻⁵ in the discovery phase and evidence of replication across multiple populations.
About KLF12
Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all KLF12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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