Association of SLC6A9 gene variants with human essential hypertension.
OBJECTIVE
We previously identified a quantitative trait locus (QTL) on rat chromosome 5 that appeared to be primarily controlled by the sympathetic nervous system. Because sympathetic overactivity is related to hypertension, solute carrier family 6, member 9 (SLC6A9) is a candidate gene for the connection of this QTL with blood pressure regulation. In the present study, we therefore explored the role of SLC6A9 genetic variations in human essential hypertension (EH).


METHODS
We evaluated three single nucleotide polymorphisms (SNPs) (rs2286245, rs3791124 and rs2486001) in 758 essential hypertension patients and 726 controls. Polymorphism-related genotypes were determined with TaqMan assays.


RESULTS
The allelic frequency of rs2286245 (C versus T, p=0.032) showed significant differences between EH and normotensive controls (NT) groups. The genotypic distribution of rs3791124 in its dominant model (AA+GA versus GG, p=0.027) also showed significant differences between EH and NT groups. The genotype and allele distributions of rs2486001 did not exhibit any significant differences.


CONCLUSIONS
We found an association between SLC6A9 gene polymorphisms and essential hypertension in a Japanese population, suggesting that SLC6A9 is a susceptibility locus for essential hypertension.
Ueno
Takahiro
T
Division of Nephrology, Hypertension and Endocrinology, Department of Medicine, Nihon University School of Medicine, Itabashi 173-8610, Tokyo, Japan. tueno@med.nihon-u.ac.jp
Tabara
Yasuharu
Y
Fukuda
Noboru
N
Tahira
Kazunobu
K
Matsumoto
Taro
T
Kosuge
Kotoko
K
Haketa
Akira
A
Matsumoto
Koichi
K
Sato
Yuichi
Y
Nakayama
Tomohiro
T
Katsuya
Tomohiro
T
Ogihara
Toshio
T
Makita
Yoshio
Y
Hata
Akira
A
Yamada
Michiko
M
Takahashi
Norio
N
Hirawa
Nobuhito
N
Umemura
Satosh
S
Miki
Tetsuro
T
Soma
Masayoshi
M
D000368:Aged; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D050487:Glycine Plasma Membrane Transport Proteins / Q000235:genetics*; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
D050487:Glycine Plasma Membrane Transport Proteins; C493268:SLC6A9 protein, human