rs41386349
This is a intron variant variant in the PDCD1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Programmed death-1 (PD-1) gene polymorphisms lodged in the genetic predispositions of Kawasaki DiseaseAssociationN=173Jin-Kyong Chun et al.(2010)· European Journal of Pediatrics
A case-control association study investigating PD-1 gene polymorphisms in Kawasaki disease (KD) in a Korean population. The rs41386349 T allele was significantly more frequent in 73 KD patients compared to 100 healthy controls (p=0.007, OR=1.9, 95% CI=1.2–2.9), with notable CT genotype excess (p=0.0003). The rs2227981 polymorphism showed no significant association (p=0.4, OR=1.2).
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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