rs2227982
This is a variant in the PDCD1 gene that changes a alanine to an valine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶The associations between PD-1, CTLA-4 gene polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis and systemic reviewMeta-analysisN=1,901Si Chen et al.(2016)· Rheumatology International
Meta-analysis of 8 studies examining associations between PD-1 and CTLA-4 gene polymorphisms and ankylosing spondylitis (AS) susceptibility. Meta-analysis of PD-1 rs2227982 revealed significant associations with AS risk for T versus C allele (OR 1.744, 95% CI 1.477-2.059, P<0.0001), TT+TC versus CC (OR 2.292, 95% CI 1.654-3.175, P<0.0001), and TT versus CC (OR 1.883, 95% CI 1.299-2.729, P=0.001). Other polymorphisms (PD-1 rs2227981, CTLA-4 +49 A/G, CTLA-4 -318 C/T) showed no significant associations.
About PDCD1
Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells. In addition, this protein can also promote the differentiation of CD4+ T cells into T regulatory cells. PDCD1 is expressed in many types of tumors including melanomas, and has demonstrated to play a role in anti-tumor immunity. Moreover, this protein has been shown to be involved in safeguarding against autoimmunity, however, it can also contribute to the inhibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]
View all PDCD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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