rs10167992
This is a upstream gene variant variant in the ACP1 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 ACP1
The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]
View all ACP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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