RGD Reference Report - Allelic variants of natriuretic peptide receptor genes are associated with family history of hypertension and cardiovascular phenotype. - Rat Genome Database

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Allelic variants of natriuretic peptide receptor genes are associated with family history of hypertension and cardiovascular phenotype.

Authors: Pitzalis, MV  Sarzani, R  Dessi-Fulgheri, P  Iacoviello, M  Forleo, C  Lucarelli, K  Pietrucci, F  Salvi, F  Sorrentino, S  Romito, R  Guida, P  Rappelli, A  Rizzon, P 
Citation: Pitzalis MV, etal., J Hypertens. 2003 Aug;21(8):1491-6.
RGD ID: 1580175
Pubmed: PMID:12872042   (View Abstract at PubMed)
DOI: DOI:10.1097/01.hjh.0000084707.87421.35   (Journal Full-text)

OBJECTIVE: Abnormalities in the natriuretic peptide system could play a key role in the genesis of hypertension. We evaluated the associations between a family history of hypertension, cardiovascular phenotype and allelic variants of Npr1 and Npr3, two candidate genes that codify for natriuretic peptide receptors. METHODS: We genotyped 45 young normotensive subjects (19 males, 26.8 +/- 3.7 years) with accurately assessed family history of hypertension (FH+) and 52 (26 males, 26.1 +/- 3.1 years) without (FH-) for the known variants of Npr1 and Npr3 genes, and for a novel length difference (3C/4C) polymorphism at position 15129 in the 3'-untranslated region of the Npr1 gene. Blood pressure, echocardiography and plasma brain natriuretic peptide were assessed. RESULTS: Both the novel Npr1 3C allele (59 versus 33%, P < 0.001) and the 3C/3C genotype (31 versus 8%; P < 0.001) were significantly more frequent in FH+ than in FH-. The inverse distribution of the 4C/4C genotype suggested that a casual association was very unlikely. Moreover, the 3C/3C homozygous had significantly higher systolic blood pressure (121.1 +/- 6.3 versus 115.6 +/- 7.8 mmHg in 4C/4C; P < 0.05) and a longer left ventricular isovolumic relaxation time (67 +/- 10 versus 61 +/- 9 ms; P < 0.05). The Npr3 C(-55) allele variant was also more frequent in FH+ (88 versus 76%, P < 0.05), but was not associated with the cardiovascular phenotype. CONCLUSIONS: The novel Npr1 gene 3C variant and the Npr3 gene C(-55) allele are associated with hypertensive family history. Moreover, the functional Npr1 3C variant, when homozygous, is also associated with higher systolic blood pressure and prolonged ventricular relaxation.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hypertension  IAGP 1580175DNA:snp:promoter:g.-55C>A (human)RGD 
hypertension  ISONPR3 (Homo sapiens)1580175; 1580175DNA:snp:promoter:g.-55C>A (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal ventricular filling  IAGP 1580175 RGD 
Elevated systolic blood pressure  IAGP 1580175 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Npr3  (natriuretic peptide receptor 3)

Genes (Mus musculus)
Npr3  (natriuretic peptide receptor 3)

Genes (Homo sapiens)
NPR1  (natriuretic peptide receptor 1)
NPR3  (natriuretic peptide receptor 3)

Objects referenced in this article
Gene Npr1 natriuretic peptide receptor 1 Mus musculus
Gene Npr1 natriuretic peptide receptor 1 Rattus norvegicus

Additional Information