Haplotype Analysis of the Human Renin Gene and Essential Hypertension

• Buaijiaer Hasimu

  From the Division of Receptor Biology (B.H., T.N., S.K.), Advanced Medical Research Center; the Second Department of Internal Medicine (B.H., Y.I., M.S.,Y.O.); and the Division of Genetic and Genomic Medicine (Y.M., S.A.), Advanced Medical Research Center, Nihon University School of Medicine, Tokyo, Japan.

• Tomohiro Nakayama

  From the Division of Receptor Biology (B.H., T.N., S.K.), Advanced Medical Research Center; the Second Department of Internal Medicine (B.H., Y.I., M.S.,Y.O.); and the Division of Genetic and Genomic Medicine (Y.M., S.A.), Advanced Medical Research Center, Nihon University School of Medicine, Tokyo, Japan.

• Yoshihiro Mizutani

  From the Division of Receptor Biology (B.H., T.N., S.K.), Advanced Medical Research Center; the Second Department of Internal Medicine (B.H., Y.I., M.S.,Y.O.); and the Division of Genetic and Genomic Medicine (Y.M., S.A.), Advanced Medical Research Center, Nihon University School of Medicine, Tokyo, Japan.

• Yoichi Izumi

  From the Division of Receptor Biology (B.H., T.N., S.K.), Advanced Medical Research Center; the Second Department of Internal Medicine (B.H., Y.I., M.S.,Y.O.); and the Division of Genetic and Genomic Medicine (Y.M., S.A.), Advanced Medical Research Center, Nihon University School of Medicine, Tokyo, Japan.

• Satoshi Asai

  From the Division of Receptor Biology (B.H., T.N., S.K.), Advanced Medical Research Center; the Second Department of Internal Medicine (B.H., Y.I., M.S.,Y.O.); and the Division of Genetic and Genomic Medicine (Y.M., S.A.), Advanced Medical Research Center, Nihon University School of Medicine, Tokyo, Japan.

• Masayoshi Soma

  From the Division of Receptor Biology (B.H., T.N., S.K.), Advanced Medical Research Center; the Second Department of Internal Medicine (B.H., Y.I., M.S.,Y.O.); and the Division of Genetic and Genomic Medicine (Y.M., S.A.), Advanced Medical Research Center, Nihon University School of Medicine, Tokyo, Japan.

• Shinichiro Kokubun

  From the Division of Receptor Biology (B.H., T.N., S.K.), Advanced Medical Research Center; the Second Department of Internal Medicine (B.H., Y.I., M.S.,Y.O.); and the Division of Genetic and Genomic Medicine (Y.M., S.A.), Advanced Medical Research Center, Nihon University School of Medicine, Tokyo, Japan.

• Yukio Ozawa

  From the Division of Receptor Biology (B.H., T.N., S.K.), Advanced Medical Research Center; the Second Department of Internal Medicine (B.H., Y.I., M.S.,Y.O.); and the Division of Genetic and Genomic Medicine (Y.M., S.A.), Advanced Medical Research Center, Nihon University School of Medicine, Tokyo, Japan.

抄録

The human renin gene is an attractive candidate for involvement in the underlying cause of essential hypertension (EH). Despite extensive examination, the relation between the renin gene and hypertension remains unclear. The aims of the present study were to discover new genetic markers of EH and to investigate the relations between polymorphisms of the renin gene and EH in the Japanese. Using the polymerase chain reaction–single strand conformation polymorphism (PCR-SSCP) method, we isolated 3 novel variants of the renin gene; a single nucleotide polymorphism (SNP) in intron 4 (T+17int4G), a variable number of tandem repeats (VNTR) polymorphism in intron 7, and a missense mutation in exon 9 (G1051A). We performed an association study with these polymorphisms in 212 patients with EH and 209 age-matched normotensive (NT) subjects. The frequency of genotypes VNTR and T+17int4G did not differ significantly between the 2 groups, whereas the overall distribution of G1051A was significantly different between EH and NT. Haplotype analysis revealed that the overall distribution of haplotypes differed significantly between the EH and NT groups. PRA levels in patients with EH with the G/G genotype were significantly higher than in subjects with EH with G/A and A/A genotypes. These data suggest that the missense mutation in exon 9 may affect the enzymatic function of renin and consequently may be involved in the etiology of hypertension.

収録刊行物

• Hypertension

  Hypertension 41 (2), 308-312, 2003-02

  Ovid Technologies (Wolters Kluwer Health)

キーワード

• Internal Medicine

詳細情報

• CRID: 1363951795578049280
• NII論文ID: 30022677297
• DOI: 10.1161/01.hyp.0000049762.77830.89
• ISSN: 15244563
• ISSN: 0194911X
• Web Site: https://www.ahajournals.org/doi/full/10.1161/01.HYP.0000049762.77830.89
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