• Kotoko Kosuge, Masayoshi Soma, Tomohiro Nakayama, Noriko Aoi, Mikano Sato, Yoichi Izumi, and Koichi Matsumoto.
• Division of Nephrology and Endocrinology, Department of Medicine, Nihon University School of Medicine, Ooyaguchi-kamimachi, Itabashi-ku, Tokyo, Japan.
• Int J Med Sci. 2007 May 16; 4 (3): 146152146-52.

BackgroundBrain natriuretic peptide (BNP) acts primarily as a cardiac hormone; it is produced by the ventricle and has both vasodilatory and natriuretic actions. Therefore, the BNP gene is thought to be a candidate gene for essential hypertension (EH). The present study identified variants in the 5'-flanking region of natriuretic peptide precursor B (NPPB) gene and assessed the relationship between gene variants and EH.MethodsThe polymerase chain reaction-single strand conformation polymorphism method and nucleotide sequencing were used to identify variants.ResultsA novel variable number of tandem repeat (VNTR) polymorphism in the 5'-flanking region (-1241 nucleotides from the major transcriptional initiation site) was discovered. This VNTR polymorphism is a tandem repeat of the 4-nucleotide sequence TTTC. There were 8 alleles, ranging from 9-repeat to 19-repeat. An association study was done involving 317 EH patients and 262 age-matched normotensive (NT) subjects. The 11-repeat allele was the most frequent (88.2%); the 16-repeat allele was the second most frequent (10.5%) in the NT group. The observed and expected genotypes were in agreement with the predicted Hardy-Weinberg equilibrium values (P=0.972). Among females, the overall distribution of genotypes was significantly different between the EH and NT groups (p=0.039). The frequency of the 16-repeat allele was significantly lower in the female EH group (6.5%) than in the female NT group (12.2%, p=0.046).ConclusionsThe 16-repeat allele of the VNTR in the 5'-flanking region of NPPB appears to be a useful genetic marker of EH in females.

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