rs8708
This is a regulatory region variant variant in the JAG1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association analysis of Notch pathway signalling genes in diabetic nephropathyAssociationN=1,371Kavanagh D. et al.(2011)· Diabetologia
This case-control study of 1,371 individuals with type 1 diabetes assessed 42 SNPs in four Notch pathway genes (JAG1, HES1, NOTCH3, ADAM10) for association with diabetic nephropathy. Six SNPs showed nominal associations before multiple testing correction (rs8708 in JAG1, rs11699674 in JAG1, rs10423702 in NOTCH3, rs1548555 in NOTCH3, rs2054096 in ADAM10, rs8027998 in ADAM10), but none remained significant after adjustment. The authors conclude that common variants in these genes are not strongly associated with diabetic nephropathy in type 1 diabetes.
About JAG1
The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]
View all JAG1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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