BRCA2 variants and cardiovascular disease in a multi-ethnic study
Kevin Zbuk1, Changchun Xie, Robin Young
1Population Health Research Institute, Hamilton Health Sciences, Hamilton, ON, Canada.
BMC Medical Genetics
|July 20, 2012
Summary
Two BRCA2 gene variants were linked to a reduced risk of cardiovascular disease (CVD) in a multi-ethnic population. However, this association was not consistently found in South Asian studies, suggesting further research is needed.
Area of Science:
- Genetics
- Cardiology
- Oncology
Background:
- BRCA1/2 mutations are linked to hereditary breast and ovarian cancers.
- Emerging evidence suggests BRCA proteins may influence cardiovascular health.
- This study investigates the connection between BRCA2 variants and cardiovascular disease (CVD).
Purpose of the Study:
- To examine the association between BRCA2 genetic variants and the incidence of cardiovascular disease (CVD).
Main Methods:
- Utilized data from 1,170 individuals in the SHARE and SHARE-AP multi-ethnic population-based studies.
- Genotyped 15 BRCA2 SNPs and analyzed CVD events including myocardial infarction and stroke.
- Further genotyped specific SNPs (rs11571836, rs1799943) in South Asian case-control studies (INTERHEART, PROMIS).
Main Results:
- Two BRCA2 SNPs (rs11571836, rs1799943) showed an association with lower CVD risk in SHARE studies (p=0.01, p=0.03).
- Ethnic analysis revealed associations in Aboriginal People and South Asians, but not in European or Chinese subgroups.
- Replication studies in South Asian populations did not confirm the association with myocardial infarction risk.
Conclusions:
- An association between specific BRCA2 SNPs and CVD was observed in a multi-ethnic cohort.
- The findings were not replicated in South Asian incident myocardial infarction studies.
- Further research is necessary to elucidate the role of BRCA variants in cardiovascular disease pathogenesis.
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