rs138247576
This variant is located in the PADI4 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶PADI4 polymorphisms and rheumatoid arthritis susceptibility: a meta-analysisMeta-analysisN=17,724Young Ho Lee et al.(2007)· Rheumatology International
This meta-analysis of 10 studies (9,944 RA patients and 7,780 controls) examined PADI4 polymorphisms and rheumatoid arthritis susceptibility. PADI4_94 allele 2 showed significant association with RA in Asians (OR=1.31, p<0.0001) and a trend in Europeans (OR=1.13, p=0.06). The 2/2 genotype versus 1/1 showed strong association in Europeans (OR=2.10, p<0.0001). PADI4_104 allele 2 was similarly associated overall (OR=1.17, p<0.0001), with stronger effects in Asians than Europeans. Results suggest PADI4 polymorphisms are significant risk factors for RA, particularly in Asian populations.
About PADI4
This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008]
View all PADI4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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