rs5370

Case-control study of 167 preeclampsia patients and 115 healthy Bavarian controls examining associations between hormone pathway SNPs and preeclampsia risk. Found rs10895068 (G/A genotype) in the progesterone receptor gene significantly more frequent in preeclampsia cases (16% vs 6%, P=0.023). No significant associations observed for rs1042838, rs488133, rs10046, or rs4646.

In 579 childhood primary nephrotic syndrome (CPNS) patients and 586 healthy controls from a Chinese Han population, the rs9296344 SNP in the Endothelin-1 (EDN1) gene was independently associated with CPNS susceptibility (T vs C, OR = 0.71, 95% CI = 0.57-0.88, P = .001), even after adjusting for the previously identified rs5370. The C allele was more frequent in CPNS patients and may affect EDN1 expression through its location in the 3'UTR region.

This case-control study examined the association between the EDN1 Lys198Asn (rs5370) polymorphism and sudden sensorineural hearing loss (SSNHL) in 72 SSNHL patients versus 2,159 controls. The recessive TT genotype was significantly associated with increased SSNHL risk (OR=2.209, 95% CI 1.140-4.281, p=0.019 in unadjusted model), though patients with the TT genotype showed lower severity of hearing loss compared to wild-type GG genotype carriers.

This is a literature review examining the role of genetic factors in diabetic nephropathy (kidney disease) in type 2 diabetes mellitus. The review highlights candidate genes in the renin-angiotensin system (ACE and AGT) and endothelial factors (eNOS3 and EDN1). Meta-analysis revealed associations of three eNOS3 polymorphisms (4b/a, T-786C, G984T) with diabetic nephropathy (OR=1.12-1.77 and 1.11-1.50); the ACE I/D polymorphism showed association particularly in Asian populations (D-allele OR=1.32, DD genotype OR=1.67); M235T in AGT showed inconsistent associations across populations.

This study examined the K198N polymorphism (rs5370) in the EDN1 gene in relation to hypertension, blood pressure, lipid levels, metabolic syndrome, and cardiovascular disease in 1,109 subjects from the CUDAS study and 556 subjects from the CUPID study. No significant associations were found with hypertension (P=0.27), systolic blood pressure (P=0.80), HDL/LDL/triglyceride levels, insulin resistance, or metabolic syndrome. A marginally significant association was observed between rs5370 and mean carotid intima-media thickness (P=0.02 in recessive model), with minor allele homozygotes showing higher IMT (0.725 mm vs 0.695 mm), but no association was found with coronary artery disease risk.