RGD Reference Report - A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.

General

A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.
Authors:	Kosuge, K Soma, M Nakayama, T Aoi, N Sato, M Izumi, Y Matsumoto, K
Citation:	Kosuge K, etal., Int J Med Sci. 2007 May 16;4(3):146-52.
RGD ID:	1642191
Pubmed:	PMID:17554401 (View Abstract at PubMed)
PMCID:	PMC1885554 (View Article at PubMed Central)
BACKGROUND: Brain 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.METHODS: The polymerase chain reaction-single strand conformation polymorphism method and nucleotide sequencing were used to identify variants.RESULTS: A 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).CONCLUSIONS: The 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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Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
hypertension	susceptibility	IAGP		1642191	DNA:repeats	RGD
hypertension	susceptibility	ISO	NPPB (Homo sapiens)	1642191; 1642191	DNA:repeats	RGD

Objects Annotated

Genes (Rattus norvegicus)

Nppb (natriuretic peptide B)

Genes (Mus musculus)

Nppb (natriuretic peptide type B)

Genes (Homo sapiens)

NPPB (natriuretic peptide B)

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A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.