Rs5370

rs5370, also known as Lys198Asn or K198N, is a SNP in the endothelin-1 EDN1 gene on chromosome 6. The generally more common rs5370(G) allele encodes the Lys (K), and the rarer rs5370(T) allele encodes the Asn (N).

Among the French-Canadian founder population of the Saguenay Lac St-Jean region of Quebec, rs5370(T) was associated with lower HDL cholesterol values in women (p = 1.3 x 10e-5), but not in men.

In a study of 1,000+ Western Australians, no association was seen between HDL levels and rs5370.

A study of ~400 rheumatoid arthritis patients found a 3x increase in the adjusted odds of being hypertensive for rs5370(T;T) homozygotes compared to (G;G) homozygotes (odds ratio 2.89, CI: 1.02 - 8.19, p=0.011). After adjustment for multiple potential confounders, haplotype analysis revealed an additive effect of the rs1800541-rs5370 T-T haplotype on hypertension (OR = 2.96, CI: 1.28 - 6.86; p = .011), systolic blood pressure (SBP) (beta = 6.75 +/- 2.57 mm Hg; p = .009), and pulse pressure (PP) (beta = 4.37 +/- 2.12 mm Hg; p = .040)

rs2368564 and rs5370 reduced risk of edema (P=0.003 and P=0.028, respectively). rs1801253 with increased susceptibility to edema (P=0.034)

rs5370(T;T) genotypes were the factor most significantly associated with reduced risk of diabetic retinopathy (odds ratio = 0.19, CI: 0.07-0.53; p=0.002) and with later onset of type-2 diabetes ((T;T): 59 years; (G;G) and (G;T): 53 years; p=0.02), in a Chinese population of diabetics.

High Blood Pressure (Hypertension)