The association between parental consanguinity and primary immunodeficiency diseases: A systematic review and meta-analysis

Pediatr Allergy Immunol. 2017 May;28(3):280-287. doi: 10.1111/pai.12685. Epub 2017 Feb 22.

Abstract

Background: We aimed to establish the prevalence of parental consanguinity among patients with primary immunodeficiency diseases (PID) and compare the prevalence with the general population.

Method: We searched PubMed, EMBASE, and Scopus for studies mentioning parental consanguinity prevalence in patients with PID and calculated the prevalence odds ratio (POR) of parental consanguinity in each study, compared to a matched healthy population.

Results: We identified 21 eligible studies with a total population of 18091 accounting for sample overlap. The POR among studies on a sample of mixed patients with PID ranged from 0.6 to 21.9 with the pooled POR of 3.0 (p < 0.001; I2 = 89%, 95% CI: 2.5-3.7).

Conclusion: PIDs with an autosomal recessive pattern of inheritance had significant odds of parental consanguinity compared to the healthy population, a phenomenon not observed in other inheritance patterns. Determining the extent of the impact that consanguinity imposes upon the progeny paves the way for convincing healthcare policymakers in highly consanguineous communities to act more diligently in informing the masses about the consequences of practicing inbreeding.

Keywords: consanguinity; epidemiology; meta-analysis; prevalence; primary immunodeficiencies.

Publication types

  • Meta-Analysis
  • Review
  • Systematic Review

MeSH terms

  • Child
  • Child, Preschool
  • Consanguinity*
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / epidemiology
  • Immunologic Deficiency Syndromes / genetics*
  • Infant
  • Male
  • Odds Ratio
  • Parents
  • Prevalence