rs36084323
This is a regulatory region variant variant in the PDCD1 gene.
▶Research that mentions this SNP (1)
▶PD-1 genotype of the donor is associated with acute graft-versus-host disease after HLA-identical sibling donor stem cell transplantationAssociationN=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.
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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