rs17301249
This is a intron variant variant in the EYA4 gene.
▶Research that mentions this SNP (1)
▶Genome‐wide association study of genetic predictors of anti–tumor necrosis factor treatment efficacy in rheumatoid arthritis identifies associations with polymorphisms at seven lociAssociationN=1,285Darren Plant et al.(2011)· Arthritis & Rheumatism
Multistage genome-wide association study of 1,285 RA patients receiving anti-TNF therapy identified 7 genetic loci associated with treatment response. The strongest signal was rs17301249 in EYA4 (coefficient -0.27, P = 5.67×10-05) conferring improved treatment response; rs1532269 in PDZD2 showed reduced response (coefficient 0.20, P = 7.37×10-04). Five additional loci mapped to intergenic regions on chromosomes 1, 4, 11, and 12.
About EYA4
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
View all EYA4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…