Verification of 525 coding SNPs in 179 hypertension candidate genes in the Japanese population: identification of 159 SNPs in 93 genes

被引:46
作者
Okuda, T
Fujioka, Y
Kamide, K
Kawano, Y
Goto, Y
Yoshimasa, Y
Tomoike, H
Iwai, N
Hanai, S
Miyata, T
机构
[1] Natl Cardiovasc Ctr, Suita, Osaka 5658565, Japan
[2] Ehime Univ, Sch Med, Dept Geriatr Med, Matsuyama, Ehime 790, Japan
关键词
single-nucleotide polymorphism (SNP); hypertension; Japanese population; allele frequency; amino acid substitution; nonsynonymous substitution; validation of dbSNP;
D O I
10.1007/s100380200056
中图分类号
Q3 [遗传学];
学科分类号
071007 [遗传学]; 090102 [作物遗传育种];
摘要
Single-nucleotide polymorphisms (SNPs) located in coding regions (coding SNPs; cSNPs) with amino acid substitution can potentially alter protein function. Therefore, identification of the nonsynonymous cSNPs of the genes of common diseases is valuable in tests of association with phenotypes. In this study, we validated 525 candidate cSNPs from 179 hypertension candidate genes deposited in the publicly available database dbSNP by DNA sequencing of samples from 32 Japanese individuals. We identified a total of 143 SNPs (27%) in 93 hypertension candidate genes. We also identified 16 new SNPs, for a total of 159 SNPs. Of the 159 SNPs thus identified, 104 were nonsynonymous. We estimate that approximately 20% of the SNPs deposited in dbSNP database showed a minor allele frequency of over 5%. The candidate SNPs for hypertension identified in this study would be valuable for association studies with hypertension to accelerate the identification of hypertension genes.
引用
收藏
页码:387 / 394
页数:8
相关论文
共 23 条
[1]
Influence of angiotensin-converting enzyme and angiotensin II type 1 receptor gene polymorphisms on aortic stiffness in normotensive and hypertensive patients [J].
Benetos, A ;
Gautier, S ;
Ricard, S ;
Topouchian, J ;
Asmar, R ;
Poirier, O ;
Larosa, E ;
Guize, L ;
Safar, M ;
Soubrier, F ;
Cambien, F .
CIRCULATION, 1996, 94 (04) :698-703
[2]
HGBASE:: a database of SNPs and other variations in and around human genes [J].
Brookes, AJ ;
Lehväslaiho, H ;
Siegfried, M ;
Boehm, JG ;
Yuan, YP ;
Sarkar, CM ;
Bork, P ;
Ortigao, F .
NUCLEIC ACIDS RESEARCH, 2000, 28 (01) :356-360
[3]
Characterization of single-nucleotide polymorphisms in coding regions of human genes [J].
Cargill, M ;
Altshuler, D ;
Ireland, J ;
Sklar, P ;
Ardlie, K ;
Patil, N ;
Lane, CR ;
Lim, EP ;
Kalyanaraman, N ;
Nemesh, J ;
Ziaugra, L ;
Friedland, L ;
Rolfe, A ;
Warrington, J ;
Lipshutz, R ;
Daley, GQ ;
Lander, ES .
NATURE GENETICS, 1999, 22 (03) :231-238
[4]
Variations on a theme: Cataloging human DNA sequence variation [J].
Collins, FS ;
Guyer, MS ;
Chakravarti, A .
SCIENCE, 1997, 278 (5343) :1580-1581
[5]
New goals for the US Human Genome Project: 1998-2003 [J].
Collins, FS ;
Patrinos, A ;
Jordan, E ;
Chakravarti, A ;
Gesteland, R ;
Walters, L ;
Fearon, E ;
Hartwelt, L ;
Langley, CH ;
Mathies, RA ;
Olson, M ;
Pawson, AJ ;
Pollard, T ;
Williamson, A ;
Wold, B ;
Buetow, K ;
Branscomb, E ;
Capecchi, M ;
Church, G ;
Garner, H ;
Gibbs, RA ;
Hawkins, T ;
Hodgson, K ;
Knotek, M ;
Meisler, M ;
Rubin, GM ;
Smith, LM ;
Smith, RF ;
Westerfield, M ;
Clayton, EW ;
Fisher, NL ;
Lerman, CE ;
McInerney, JD ;
Nebo, W ;
Press, N ;
Valle, D .
SCIENCE, 1998, 282 (5389) :682-689
[6]
Linkage and association of tumor necrosis factor receptor 2 locus with hypertension, hypercholesterolemia and plasma shed receptor [J].
Glenn, CL ;
Wang, WYS ;
Benjafield, AV ;
Morris, BJ .
HUMAN MOLECULAR GENETICS, 2000, 9 (13) :1943-1949
[7]
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis [J].
Halushka, MK ;
Fan, JB ;
Bentley, K ;
Hsie, L ;
Shen, NP ;
Weder, A ;
Cooper, R ;
Lipshutz, R ;
Chakravarti, A .
NATURE GENETICS, 1999, 22 (03) :239-247
[8]
JS']JSNP: a database of common gene variations in the Japanese population [J].
Hirakawa, M ;
Tanaka, T ;
Hashimoto, Y ;
Kuroda, M ;
Takagi, T ;
Nakamura, Y .
NUCLEIC ACIDS RESEARCH, 2002, 30 (01) :158-162
[9]
MOLECULAR-BASIS OF HUMAN HYPERTENSION - ROLE OF ANGIOTENSINOGEN [J].
JEUNEMAITRE, X ;
SOUBRIER, F ;
KOTELEVTSEV, YV ;
LIFTON, RP ;
WILLIAMS, CS ;
CHARRU, A ;
HUNT, SC ;
HOPKINS, PN ;
WILLIAMS, RR ;
LALOUEL, JM ;
CORVOL, P .
CELL, 1992, 71 (01) :169-180
[10]
Prospects for whole-genome linkage disequilibrium mapping of common disease genes [J].
Kruglyak, L .
NATURE GENETICS, 1999, 22 (02) :139-144