rs6749447
This is a regulatory region variant variant in the STK39 gene.
▶Research that mentions this SNP (1)
▶Association of with‐no‐lysine kinase 1 and Serine/Threonine kinase 39 gene polymorphisms and haplotypes with essential hypertension in TibetansAssociationN=509Rufeng Shi et al.(2018)· Environmental and Molecular Mutagenesis
A case-control study in 204 hypertensive and 305 normotensive Tibetans identified WNK1 rs1468326 (allele A: 53.4% vs 42.9%, OR 1.60, 95% CI 1.02-2.62 for CA+AA genotypes) and STK39 rs6749447 (TT genotype protective: OR 0.49, 95% CI 0.19-0.95) as significantly associated with essential hypertension. The WNK1 haplotype AGACAGGAATCGT (H2) showed 1.57-fold increased hypertension risk (95% CI 1.02-2.41).
About STK39
This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008]
View all STK39 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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