rs9311745
This is a intron variant variant in the FHIT gene.
▶Research that mentions this SNP (1)
▶Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome‐wide association analysisAssociationN=3,260Anne Hinks et al.(2009)· Arthritis & Rheumatism
A genome-wide association study (GWAS) identified novel genetic susceptibility loci for juvenile idiopathic arthritis (JIA) in a discovery cohort of 279 cases and 184 controls, followed by validation in 321 cases and 2,024 controls. The most strongly associated SNP (rs2187684) mapped to the HLA region (OR 0.61, p=0.00006), and fine-mapping identified 10 SNPs in the VTCN1 gene associated with JIA, with rs2358820 showing the second strongest association (OR 0.45, p=0.003).
About FHIT
The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]
View all FHIT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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