title: A common variant of the eNOS gene (E298D) is an independent risk factor for left ventricular hypertrophy in human essential hypertension.
abstract: eNOS (endothelial NO synthase) plays a critical role in the development of ventricular remodelling and cardiac hypertrophy. The purpose of the present study was to determine whether three common variants in NOS3 (the eNOS gene) are associated with the risk of LVH [LV (left ventricular) hypertrophy] in patients with essential hypertension. Three NOS3 genetic variants, -T786C (rs2070744), eNOS4a/b and +G894T (rs1799983), were genotyped in two independent case-control studies: the first study consisted of 1061 hypertensive patients with LVH and 1118 hypertensive patients without LVH, and the second sample consisted of 120 patients with LVH and 223 patients without LVH. Echocardiographic measurements were obtained in all of the hypertensive patients. Only the +G894T (E298D) variant of NOS3 was associated with a higher risk of LVH {OR (odds ratio), 1.67 [95% CI (confidence interval), 1.19-2.36]; P<0.01} in the first population, and replicated in the second population [OR, 1.41 (95% CI, 1.01-2.28); P<0.05] in a recessive model. Compared with carriers of the G allele (GT+GG), patients carrying the TT genotype had increased septal wall thickness (16.2%, P<0.01 and 11.7%, P<0.01 respectively), LV posterior wall thickness (8.3%, P<0.01 and 7.1%, P<0.01 respectively), LV mass index (14.0%, P<0.01 and 25.1%, P<0.01 respectively) and relative wall thickness (13.1%, P<0.01 and 16.2%, P<0.01 respectively) in the first and second populations. The results of the present study support that homozygosity for +G894T (E298D) in NOS3 is a genetic risk factor for the development of LVH in patients with hypertension.
authors.affiliation: Sino-German Laboratory for Molecular Medicine, FuWai Cardiovascular Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Xin
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Song
authors.forename: Hao
authors.initials: H
authors.lastname: Xue
authors.forename: Zhe
authors.initials: Z
authors.lastname: Liu
authors.forename: Xiaojian
authors.initials: X
authors.lastname: Wang
authors.forename: Hu
authors.initials: H
authors.lastname: Wang
authors.forename: Kai
authors.initials: K
authors.lastname: Sun
authors.forename: Yongyi
authors.initials: Y
authors.lastname: Bai
authors.forename: Junhao
authors.initials: J
authors.lastname: Liu
authors.forename: Rutai
authors.initials: R
authors.lastname: Hui
mesh_terms: D016022:Case-Control Studies; D004452:Echocardiography; D005260:Female; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D017379:Hypertrophy, Left Ventricular / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D012307:Risk Factors
chemical_list: C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III