title: Association of epithelial sodium channel β-subunit common polymorphism with essential hypertension families in a Chinese population.
abstract: The purpose of this study was to investigate whether common polymorphisms in the C-terminus of SCNN1B gene encoding the β-subunit of epithelial sodium channel are associated with essential hypertension (EH) in Chinese hypertensive families. A total of 433 subjects from 102 EH families were recruited. Biochemical and anthropometric indices and systematic screening of the C-terminus of SCNN1B were performed. Four single nucleotide polymorphisms (SNPs) were found. Homozygotes for the common A allele at rs3743966 had on average a 12.06 mmHg higher SBP and a 7.43 mmHg higher DBP than homozygotes for the rarer T allele. AA + AT genotype of rs3743966 was also found to maybe a risk factor of hypertension by logistic regression and transmission/disequilibrium test. AA + AT genotype of rs3743966 maybe a risk factor of EH. In conclusion, there was a significant association between the rs3743966 SNP in intron 12 and EH in Chinese hypertensive families.
authors.affiliation: Department of Cardiology, Xuanwu Hospital, Capital Medical University, Beijing, China.
authors.forename: Yanling
authors.initials: Y
authors.lastname: Wang
authors.forename: Zhi
authors.initials: Z
authors.lastname: Liu
authors.forename: Qi
authors.initials: Q
authors.lastname: Hua
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
authors.forename: Yanning
authors.initials: Y
authors.lastname: Cai
authors.forename: Rongkun
authors.initials: R
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics*; D001794:Blood Pressure / Q000235:genetics; D053503:Epithelial Sodium Channels / Q000235:genetics*; D000075222:Essential Hypertension; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics* / Q000503:physiopathology; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D021122:Protein Subunits / Q000235:genetics*
chemical_list: D053503:Epithelial Sodium Channels; D021122:Protein Subunits