rs4947332
This is a upstream gene variant variant in the SLC44A4 gene.
▶Research that mentions this SNP (1)
▶Rheumatoid arthritis risk allele PTPRC is also associated with response to anti–tumor necrosis factor α therapyAssociationN=1,283Cui J. et al.(2010)· Arthritis & Rheumatism
This multi-cohort genetic association study of 1,283 RA patients found that the PTPRC/CD45 gene variant rs10919563 (G allele) is associated with favorable response to anti-TNF therapy (OR 0.55, P=0.0001). Of 31 established RA risk alleles tested, only PTPRC reached genome-wide significance for therapy response, with stronger associations in autoantibody-positive patients (OR 0.55, 95% CI 0.39-0.76) compared to seronegative patients.
About SLC44A4
The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
View all SLC44A4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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