rs11568821

This is a intron variant variant in the PDCD1 gene.

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ClinVar annotation

Benign★★★☆
1 submitter3 publications

RECLASSIFIED - PDCD1 POLYMORPHISM

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Research that mentions this SNP (2)

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PD-1 genotype of the donor is associated with acute graft-versus-host disease after HLA-identical sibling donor stem cell transplantation
AssociationN=1,485Nazly Santos et al.(2018)· Annals of Hematology

This study examined two PD-1 gene polymorphisms (rs36084323 and rs11568821) in donors of 1485 HLA-identical sibling hematopoietic stem cell transplants. The rs36084323 GG genotype was associated with increased acute GvHD risk (HR 2.2, P=0.033), while the rs11568821 AA genotype showed much stronger association (HR 4.5, P<0.001). The rs11568821 AA genotype also remained significant for severe (grades III-IV) GvHD (HR 4.15, P<0.001). PD-1 genotype did not significantly affect overall survival, relapse incidence, or chronic GvHD.

Traits studied:Acute graft-versus-host diseaseChronic graft-versus-host diseaseOverall survival after transplantationRelapse incidenceTransplant-related mortality
PubMedDOIMetascience Observatory
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The associations between PD-1, CTLA-4 gene polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis and systemic review
Meta-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.

Traits studied:Ankylosing spondylitis
PubMedDOIMetascience Observatory

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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