OBJECTIVETo identify the single nucleotide polymorphisms (SNPs) in the regulatory and coding regions of human SCN7A (sodium channel, voltage-gated, type VII, alpha polypeptide) gene and to investigate the association of some of these SNPs with essential hypertension (EH) in Chinese.

METHODSThe promoter region, exons, as well as part of the introns of SCN7A gene were sequenced by a fluorescent labeling automatic sequencing method to identify and characterize the SNPs in Chinese population. SNP genotyping was performed by PCR-RFLP or direct DNA sequencing in unrelated EH patients and normotensive controls from a Chinese Han population residing in Shanghai area. Case-control studies on seven SNPs were first carried out in 96 patients and 96 normotensive controls. The positive finding was further verified in an extended study containing 288 patients and 288 controls.

RESULTSThirty-two SNPs were identified through a 13,132 bp sequencing of SCN7A gene. Among them, seven were in regulatory region, ten in coding regions, one in 3'UTR and fourteen in introns. Thirty SNPs were novel SNPs, and a cSNP in exon 18 (SNP021) was associated with hypertension.

CONCLUSIONThe SNP021 in the gene SCN7A is associated with essential hypertension of Chinese Han population in Shanghai and the role of SCN7A gene in hypertension deserves to be further analyzed.