title: Do genetic defects of DNA repair relevant proteins alter susceptibility to hypertension? A case-control study in northeastern Han Chinese.
abstract: The aim of this study was to examine the individual and interactive associations of five non-synonymous variants of four DNA repair relevant genes (XRCC1, XRCC3, hOGG1, NQO1) with hypertension in a large northeastern Han Chinese population. This was a hospital-based study involving 1009 hypertensive patients and 756 normotensive controls. All five variants satisfied the Hardy-Weinberg equilibrium. With a Bonferroni corrected alpha of 0.05/5, significance was only attained in the genotype (P=0.007) and allele (P=0.006) distributions of rs25487 in XRCC1 gene between patients and controls, with its mutant allele conferring 29% (95% CI: 1.09-1.53; P=0.003), 31% (95% CI: 1.05-1.62; P=0.015) and 66% (95%CI: 1.10-2.52; P=0.016) increased risks of hypertension under the additive, dominant and recessive models, respectively after adjusting for confounders. The frequency of allele combination C-A-C-G-C (alleles in order of rs1799782, rs25487, rs861539, rs1052133 and rs1800566) was significantly higher in patients than in controls (P=0.003), while that of C-G-C-C-C was significantly lower (P=0.001). Interaction analysis failed to identify any suggestive evidence of synergism across five examined variants. Our findings provide evidence for a contributory role of XRCC1 gene rs25487 variant in the development of hypertension, and this variant possibly acted in a recessive pattern.
authors.affiliation: Department of Cardiology, The Fourth People's Hospital of Shenzhen, Shenzhen, Guangdong, China. Electronic address: jiananchina@hotmail.com.
authors.forename: Nan
authors.initials: N
authors.lastname: Jia
authors.affiliation: The First Clinical Medical College, Fujian Medical University, Fuzhou, Fujian, China.
authors.forename: Junxia
authors.initials: J
authors.lastname: Xu
authors.affiliation: Department of Physiology, Qiqihar Medical University, Qiqihar, Heilongjiang, China.
authors.forename: Hongye
authors.initials: H
authors.lastname: Zhao
authors.affiliation: The Third Division of Cardiology, Department of Internal Medicine, The Second Affiliated Hospital of Qiqihar Medical University, Qiqihar, Heilongjiang, China.
authors.forename: Yanli
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Physiology, Qiqihar Medical University, Qiqihar, Heilongjiang, China. Electronic address: wangbinqqhr@163.com.
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.affiliation: State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Institute of Hypertension, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America. Electronic address: niuwenquan_shcn@163.com.
authors.forename: Wenquan
authors.initials: W
authors.lastname: Niu
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D045647:DNA Glycosylases / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics*; D000076105:X-ray Repair Cross Complementing Protein 1
chemical_list: D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C110901:X-ray repair cross complementing protein 3; C000619371:XRCC1 protein, human; D016660:NAD(P)H Dehydrogenase (Quinone); C447479:NQO1 protein, human; D045647:DNA Glycosylases; C479058:oxoguanine glycosylase 1, human
keywords: Case–control association study; DNA repair relevant gene; Genetic variant; Hypertension