rs614128
This is a intron variant variant in the NOX4 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
▶Research that mentions this SNP (1)
▶Microarray analysis of multiple candidate genes and associated plasma proteins for nephropathy secondary to type 2 diabetes among Chinese individualsAssociationN=932Lim SC et al.(2009)· Diabetologia
A case-control candidate gene study of 932 Chinese individuals (487 diabetic nephropathy cases, 445 controls) genotyped for 914 SNPs across 43 candidate genes identified common variants in NOX4 (GGCC haplotype OR=2.05-2.48, p=0.0055), endothelin-1 (rs1476046G>A OR=1.26-1.87, p=0.0072), and NOS1 (TGTC haplotype OR=1.26-1.57, p=0.0073) associated with diabetic nephropathy, plus a rare NOX1 coding variant (rs2071756G>A, R315H) found exclusively in cases. Variants correlated with differential plasma protein concentrations.
About NOX4
This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
View all NOX4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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