rs1061622
This is a variant in the TNFRSF1B gene that changes a methionine to an arginine.
▶ClinVar annotation
Associated with severe COVID-19 disease; Susceptibility to severe coronavirus disease (COVID-19); Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR2
View on ClinVar →▶Research that mentions this SNP (3)
▶Exploring new genetic variants within COL5A1 intron 4‐exon 5 region and TGF‐β family with risk of anterior cruciate ligament rupturesReviewN=9,720Mary‐Jessica N. Laguette et al.(2020)· Journal of Orthopaedic Research
This systematic review analyzed 24 studies examining 31 genes and 62 genetic variants associated with anterior cruciate ligament rupture (ACLR). Key findings show mixed evidence for collagen variants: COL1A1 rs1800012 showed protective association in European ancestry populations (OR=2.8, p=0.040), while COL1A2 rs42524 and rs2621215 conferred increased risk (OR=5.73 and 4.29 respectively). VEGFA polymorphisms rs2010963 and rs699947 showed conflicting associations across studies, and most major variants in IL6, IL1B, MMP genes, and inflammatory markers showed no consistent associations with ACLR across populations, highlighting the need for gender and ancestry-stratified analyses.
▶A genome-wide association study of severe teenage acne in European AmericansAssociationN=2,320Mingfeng Zhang et al.(2014)· Human Genetics
A genome-wide association study of 928 European Americans (81 cases with severe teenage acne, 847 controls) identified rs4133274 on chromosome 8q24 as significantly associated with severe teenage acne (OR=4.01, 95% CI=2.37-6.82, p=1.7×10⁻⁶), located 72 kb upstream of the MYC gene. The finding was not replicated in an independent cohort (n=1,392), but suggests a potential genetic link between acne and cancer risk through MYC-mediated androgen regulation.
▶Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populationsAssociationN=890Colleen J. Saunders et al.(2013)· Journal of Orthopaedic Research
PhD dissertation examining genetic variants in collagen genes (COL22A1, COL27A1, COL11A1) and anterior cruciate ligament injury risk in Polish athletes. Paper 1 is a systematic review of genetic determinants of ACL rupture. Papers 2 and 3 are case-control association studies finding no significant associations between SNPs rs11784270/rs6577958 (COL22A1), rs946053 (COL27A1), and rs3753841 (COL11A1) and non-contact ACL injury risk in Polish athletes.
About TNFRSF1B
The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]
View all TNFRSF1B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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