rs1532269
This is a intron variant variant in the PDZD2 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 PDZD2
The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]
View all PDZD2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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