RGD Reference Report - Atrial natriuretic peptide gene polymorphisms and risk of ischemic stroke in humans. - Rat Genome Database

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Atrial natriuretic peptide gene polymorphisms and risk of ischemic stroke in humans.

Authors: Rubattu, S  Stanzione, R  Di Angelantonio, E  Zanda, B  Evangelista, A  Tarasi, D  Gigante, B  Pirisi, A  Brunetti, E  Volpe, M 
Citation: Rubattu S, etal., Stroke. 2004 Apr;35(4):814-8. Epub 2004 Mar 11.
RGD ID: 1580137
Pubmed: PMID:15017020   (View Abstract at PubMed)
DOI: DOI:10.1161/01.STR.0000119381.52589.AB   (Journal Full-text)

BACKGROUND AND PURPOSE: A precise definition of genetic factors responsible for common forms of stroke is still lacking. The purpose of the present study was to investigate the contributory role of the genes encoding atrial natriuretic peptide (ANP) and type A natriuretic peptide receptor (NPRA) in humans' susceptibility to develop ischemic stroke. METHODS: Allele and genotype frequencies of ANP and NPRA were characterized in an Italian case-control study with patients affected by vascular disease or risk factors. Subjects were recruited from the island of Sardinia (206 cases, 236 controls). RESULTS: A significant association between the ANP/TC2238 polymorphic site and stroke occurrence was found when a recessive model of inheritance was assumed. The risk conferred by this mutant genotype, when estimated by multivariate logistic regression analysis, was 3.8 (95% confidence interval, 1.4 to 10.9). A significantly increased risk of stroke recurrence was observed among cases carrying the ANP/CC2238 genotype compared with cases carrying the ANP/TT2238 genotype (P=0.04). No direct association of NPRA with stroke occurrence was detected. However, a significant epistatic interaction between the ANP/CC2238 genotype and an allelic variant of NPRA led to a 5.5-fold increased risk of stroke (95% confidence interval, 1.5 to 19.4). CONCLUSIONS: Our findings support a direct contributory role of ANP to stroke in humans. A significant interaction between ANP and NPRA on stroke occurrence was found.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Stroke susceptibilityIAGP 1580137DNA:polymorphism:TC2238RGD 
Stroke susceptibilityISONPPA (Homo sapiens)1580137; 1580137 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nppa  (natriuretic peptide A)

Genes (Mus musculus)
Nppa  (natriuretic peptide type A)

Genes (Homo sapiens)
NPPA  (natriuretic peptide A)


Additional Information