Associations SELE gene haplotype variant and hypertension in Mongolian and Han populations.

Unlabelled: Genetic variation is thought to contribute to the etiology of hypertension, and E-selectin is a candidate essential hypertension-associated gene.

Objective: In this study, we attempted to test the hypothesis that subtle haplotype variants of SELE genes may be sources of essential hypertension in Mongolian and Han populations.

Materials: A total of 429 unrelated Mongolian herdsmen and 416 Han farmers were enrolled, including 212 Mongolian essential hypertension (EH) patients, 217 Mongolian normotensives (controls), 200 Han EH patients and 216 Han normotensives (controls).

Methods: All nine tag single-nucleotide polymorphisms (SNPs) within the SELE gene were retrieved from HapMap and the genotyping was performed using a polymerase chain reaction (PCR)/ligase detection reaction assay. Results The distributions of the A-allele frequency of rs3917458 and the C-allele frequency of rs2179172 differed significantly between the hypertensive subjects and controls in the Han population. The frequency of haplotype GGC was significantly higher in the EH group than in the controls in the Mongolian population. In the Han population, a significant difference was observed in the haplotype frequency of TCC between the patients and controls, whereas haplotype ACA was detected significantly less often in the EH subjects than in the controls.

Conclusion: Meanwhile, the haplotype TCC in the Han hypertensive patients and the haplotype GGC in the Mongolian patients had independent effects in increasing the risk for EH and maybe used as risk factors for predicting high blood pressure. However, the haplotype ACA had an independent effect in decreasing the risk of hypertension and may be protective in normotensive subjects in the Han population. Therefore, multiple SNPs in combination in SELE may confer a risk of hypertension.