A genome-wide association study of hypertension-related phenotypes in a Japanese population.
BACKGROUND
Large-scale genome-wide association studies (GWAS) have been successful in identifying genes that contribute to common diseases and phenotypes. A GWAS of hypertension-related phenotypes in a Japanese population was conducted in the current study.


RESULTS
A total of 936 participants were recruited from the Suita Study and a GWAS with 538,732 single nucleotide polymorphisms (SNP) was performed. The phenotypes included were systolic and diastolic blood pressure (SBP and DBP), body mass index (BMI), waist-to-hip ratio (WHR), plasma renin activity (PRA), plasma aldosterone concentration (PAC), plasma brain natriuretic peptide (BNP) concentration and alcohol consumption (AC). The SNP exceeding the genome-wide significance level were subjected to subsequent association studies using samples available from the Suita Study and Nomura Study. There is no master gene in the Japanese population that profoundly affects SBP, DBP, BMI, WHR, PRA and PAC. AC was influenced by the functional polymorphism in ALDH2, which affected BP levels in men. The BNP concentration was influenced by a polymorphism in the 3' region of the gene encoding for BNP. However, this polymorphism did not influence blood pressure (BP). Six SNP were identified to be associated with hypertension in both the Suita and Nomura studies.


CONCLUSIONS
Although several candidate SNP relevant to hypertension and those influencing AC and BNP were identified, our middle-sized GWAS indicated that there is no master gene in Japanese people that profoundly affects BP-related phenotypes.
Hiura
Yumiko
Y
Department of Genomic Medicine, Research Institute, National Cerebral and Cardiovascular Center, Suita, Japan.
Tabara
Yasuharu
Y
Kokubo
Yoshihiro
Y
Okamura
Tomonori
T
Miki
Tetsuro
T
Tomoike
Hitonobu
H
Iwai
Naoharu
N
D000328:Adult; D000368:Aged; D000428:Alcohol Drinking / Q000235:genetics; D000450:Aldosterone / Q000097:blood; D044466:Asian People / Q000235:genetics*; D015415:Biomarkers / Q000097:blood; D001794:Blood Pressure / Q000235:genetics; D015992:Body Mass Index; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D006973:Hypertension / Q000097:blood / Q000208:ethnology* / Q000235:genetics* / Q000503:physiopathology; D007564:Japan / Q000453:epidemiology; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D020097:Natriuretic Peptide, Brain / Q000097:blood; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012083:Renin / Q000097:blood; D018570:Risk Assessment; D012307:Risk Factors; D049629:Waist-Hip Ratio
D015415:Biomarkers; D020097:Natriuretic Peptide, Brain; D000450:Aldosterone; D012083:Renin