Journal article
Consanguinity and the risk of congenital heart disease
American Journal of Medical Genetics Part A, Vol.158A(5), pp.1236-1241
2012
Abstract
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is less clear, particularly since the disease pathophysiology may involve genetic and environmental/epigenetic factors. In this study, we ask whether consanguinity affects one of the most common birth defects, congenital heart disease, and identify areas for further research into these birth defects, since consanguinity may now impact health on a near-global basis. A systematic review of consanguinity in congenital heart disease was performed, focusing on non-syndromic disease, with the methodologies and results from studies of different ethnic populations compared. The risks for congenital heart disease have been assessed and summarized collectively and by individual lesion. The majority of studies support the view that consanguinity increases the prevalence of congenital heart disease, however, the study designs differed dramatically. Only a few (n=3) population-based studies that controlled for potential sociodemographic confounding were identified, and data on individual cardiac lesions were limited by case numbers. Overall the results suggest that the risk for congenital heart disease is increased in consanguineous unions in the studied populations, principally at first-cousin level and closer, a factor that should be considered in empiric risk estimates in genetic counseling. However, for more precise risk estimates a better understanding of the underlying disease factors is needed.
Details
- Title
- Consanguinity and the risk of congenital heart disease
- Authors/Creators
- J.T.C. Shieh (Author/Creator)A.H. Bittles (Author/Creator)L. Hudgins (Author/Creator)
- Publication Details
- American Journal of Medical Genetics Part A, Vol.158A(5), pp.1236-1241
- Publisher
- Wiley-Liss Inc
- Identifiers
- 991005545045107891
- Copyright
- © 2012 Wiley Periodicals, Inc.
- Murdoch Affiliation
- Centre for Comparative Genomics
- Language
- English
- Resource Type
- Journal article
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- Citation topics
- 1 Clinical & Life Sciences
- 1.189 Genome Studies
- 1.189.1853 Human Genetic Diversity
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics