Consanguinity and birth defects in the jerusalem perinatal study cohort

S. Harlap*, K. Kleinhaus, M. C. Perrin, R. Calderon-Margalit, O. Paltiel, L. Deutsch, O. Manor, E. Tiram, R. Yanetz, Y. Friedlander

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Background: While parental consanguinity is known to increase the risk of birth defects in offspring, it is hard to quantify this risk in populations where consanguinity is prevalent. Methods: To support ongoing studies of cancer and of psychiatric disease, we studied relationships of consanguinity to 1,053 major birth defects in 29,815 offspring, born in 1964-1976. To adjust for confounding variables (geographic origin, social class and hospital), we constructed logistic regression models, using GEE to take into account correlations between sibs. Odds ratios (ORs) and 95% confidence limits were estimated in comparison to a reference group of offspring with grandfathers born in different countries. Results: With 10.1% of offspring having consanguineous parents, the adjusted OR for major birth defect was 1.41 (1.12-1.74). Offspring of marriages between uncles-nieces, first cousins and more distant relatives showed adjusted ORs of 2.36 (0.98-5.68), 1.59 (1.22-2.07) and 1.20 (0.89-1.59) respectively. For descendents of grandfathers born in the same country, but not known to be related, the OR was 1.05 (0.91-1.21); these showed increased risk associated with ancestries in Western Asia (1.27, 1.04-1.55, p < 0.02) or Europe (1.13, 0.79-1.80). Conclusions: A strong association of consanguinity with poverty and low education points to the need to avoid exposure to environmental hazards in these families.

Original languageAmerican English
Pages (from-to)180-189
Number of pages10
JournalHuman Heredity
Issue number3
StatePublished - Jul 2008
Externally publishedYes


  • Consanguinity
  • First cousins
  • Jews
  • Major birth defects
  • Muslims
  • Social class
  • Uncle-niece


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