Association of a transcription factor 21 gene polymorphism with hypertension

Fujimaki,Tetsuo; Oguri,Mitsutoshi; Horibe,Hideki; Kato,Kimihiko; Matsuoka,Reiko; Abe,Shintaro; Tokoro,Fumitaka; Arai,Masazumi; Noda,Toshiyuki; Watanabe,Sachiro; Yamada,Yoshiji

doi:10.3892/br.2014.371

Association of a transcription factor 21 gene polymorphism with hypertension

Authors:
- Tetsuo Fujimaki
- Mitsutoshi Oguri
- Hideki Horibe
- Kimihiko Kato
- Reiko Matsuoka
- Shintaro Abe
- Fumitaka Tokoro
- Masazumi Arai
- Toshiyuki Noda
- Sachiro Watanabe
- Yoshiji Yamada
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Affiliations: Department of Cardiovascular Medicine, Inabe General Hospital, Inabe, Mie 511‑0428, Japan, Department of Cardiology, Japanese Red Cross Nagoya First Hospital, Nagoya, Aichi 453‑8511, Japan, Department of Cardiovascular Medicine, Gifu Prefectural Tajimi Hospital, Tajimi, Gifu 507‑8522, Japan, Department of Internal Medicine, Meitoh Hospital, Nagoya, Aichi 465‑0025, Japan, Department of Cardiology, Gifu Prefectural General Medical Center, Gifu, Gigu 500‑8717, Japan, Department of Human Functional Genomics, Life Science Research Center, Mie University, Tsu, Mie 514‑8507, Japan
Published online on: October 13, 2014 https://doi.org/10.3892/br.2014.371
Pages: 118-122

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Abstract

Various loci and genes that confer susceptibility to coronary artery disease (CAD) have been identified mainly in Caucasian populations by genome‑wide association studies (GWASs). As hypertension is a major risk factor for CAD, certain polymorphisms may contribute to the genetic susceptibility to CAD through affecting the predisposition to hypertension. The aim of the present study was to examine a possible association of hypertension with 29 single‑nucleotide polymorphisms (SNPs) previously identified by meta‑analyses of GWASs as susceptibility loci for CAD. Study subjects comprised of 5,460 individuals (3,348 subjects with hypertension and 2,112 controls). The genotypes of SNPs were determined by the multiplex bead‑based Luminex assay. The χ2 test revealed that genotype distributions and allele frequencies for rs12190287 of the transcription factor 21 gene (TCF21) and rs1122608 of the SWI/SNF‑related, matrix‑associated, actin‑dependent regulator of chromatin, subfamily a, member 4 gene (SMARCA4) were significantly (P<0.05) associated with hypertension. Allele frequencies for rs9369640 of the phosphatase and actin regulator 1 gene (PHACTR1) and genotype distributions for rs599839 of the proline/serine‑rich coiled‑coil 1 gene (PSRC1) were also significantly associated with hypertension. Multivariable logistic regression analysis with adjustment for age, gender, body mass index and smoking status revealed that rs12190287 of TCF21 (P=0.0014; recessive model; odds ratio, 1.21) was significantly associated with hypertension, and the C allele represented a risk factor for this condition. Similar analyses revealed that rs1122608 of SMARCA4 (P=0.0305; dominant model; odds ratio, 0.86), rs9369640 of PHACTR1 (P=0.0119; dominant model; odds ratio, 0.82) and rs599839 of PSRC1 (P=0.0248; dominant model; odds ratio, 0.84) were also related to hypertension, with the minor T, C and G alleles, respectively, being protective against this condition. Thus, the present results indicate that rs12190287 (G→C) of TCF21 is a susceptibility locus for hypertension.

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