title: Associations of epithelial sodium channel genes with blood pressure: the GenSalt study.
abstract: In order to investigate the associations of SCNN1A, SCNN1G and SCNN1B genes with blood pressure (BP) in the Han Chinese population, we included 2880 participants did not use antihypertensive medication in the month prior to the baseline survey in the current analysis. Forty-four tag-single-nucleotide polymorphisms (SNPs) in epithelial sodium channel (ENaC) genes were selected and genotyped, and nine BP measurements were obtained during the 3-day examination. In the single-marker analyses, we identified significant associations of SCNN1A marker rs13306613 with diastolic BP (DBP) and SCNN1B marker rs12447134 with systolic BP (SBP) under codominant model after Bonferroni's correction (P=2.82 × 10(-5) and 4.63 × 10(-4), respectively). In addition, five SNPs in SCNN1G and four SNPs in SCNN1B achieved nominal significance for SBP, DBP or mean arterial pressure (MAP) under the additive model. For example, the minor C allele of rs5735 in SCNN1G gene was associated with decreased SBP, DBP and MAP (P=0.016, 5.41 × 10(-3) and 4.36 × 10(-3), respectively). Gene-based results showed significant associations of SCNN1G and SCNN1B with BP levels. This study suggested that ENaC genes have important roles in BP regulation in the Han Chinese population. Future studies are warranted to replicate these findings, and functional studies are needed to identify true causal variants in ENaC genes.
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: F
authors.initials: F
authors.lastname: Liu
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: X
authors.initials: X
authors.lastname: Yang
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: X
authors.initials: X
authors.lastname: Mo
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: J
authors.initials: J
authors.lastname: Huang
authors.affiliation: 1] Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA [2] Department of Medicine, Tulane University School of Medicine, New Orleans, LA, USA.
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.affiliation: Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA.
authors.forename: T N
authors.initials: TN
authors.lastname: Kelly
authors.affiliation: Department of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, TX, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Hixson
authors.affiliation: Division of Biostatistics, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: D C
authors.initials: DC
authors.lastname: Rao
authors.affiliation: Division of Biostatistics, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: C C
authors.initials: CC
authors.lastname: Gu
authors.affiliation: Department of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, TX, USA.
authors.forename: L C
authors.initials: LC
authors.lastname: Shimmin
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.affiliation: Division of Biostatistics, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: T K
authors.initials: TK
authors.lastname: Rice
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.affiliation: Division of Biostatistics, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: K
authors.initials: K
authors.lastname: Schwander
authors.affiliation: 1] Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA [2] Department of Medicine, Tulane University School of Medicine, New Orleans, LA, USA.
authors.forename: J
authors.initials: J
authors.lastname: He
authors.affiliation: National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: D-P
authors.initials: DP
authors.lastname: Liu
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: D
authors.initials: D
authors.lastname: Gu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D001794:Blood Pressure / Q000235:genetics*; D002681:China / Q000453:epidemiology; D053503:Epithelial Sodium Channels / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D006973:Hypertension / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology / Q000517:prevention & control; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D065840:Protective Factors; D012307:Risk Factors; D055815:Young Adult
chemical_list: D053503:Epithelial Sodium Channels; C507045:SCNN1A protein, human; C507048:SCNN1B protein, human; C507052:SCNN1G protein, human