ABSTRACT
Background: Marriage between close relatives has been practised globally since the early existence of human society. The role of consanguinity and inbreeding affecting human health is a topic of great interest in medical genetics
Objective: The objective of the study was to investigate the extent of consanguinity and its effects on common non-communicable diseases, the related risk factors, its role in human health and susceptibility to various chronic and complex diseases in Qatari population
Subjects and methods: The study design was a cross-sectional and multi-stage sampling based on Hospitals and primary health care [PHC] centres. A representative sample of 1626 subjects were approached and 1228 subjects [75.5%] consented to participate in the study between January 2013 and May 2014. The questionnaire based on socio-demographic data and for responses, on the Premarital Screening and Genetic Counseling [PMSGC] program knowledge, attitude and practice statements. Additionally, questions were asked regarding services, activities, how to attract and motivate the genetics counseling and screening for the hereditary diseases programme
Results: The mean age +/- S.D of the 1228 women interviewed was 39.25 +/- 9.57 years. The rate of consanguinity in the present generation was 43.5% [95% CI = 47.7-54.4]. There were statistically significant differences between males and females with regards to age, educational status, occupation status, household income, consanguinity, BMI, cigarette smoking and sheesha [water pipe] smoking. The consanguinity rate and coefficient of inbreeding in the parental was significantly higher than the maternal rate [44.3% versus 41.4%; p < 0.001] [0.018738 versus 0.017571 maternal]. The current generation of consanguineous parents had a slightly higher risk for diseases such as diabetes mellitus, cancer, blood and mental disorders, heart diseases, asthma, gastro-intestinal disorders, hypertension, hearing deficit, G6PD and common eye diseases
Conclusion: The present study revealed a higher incidence of certain diseases in consanguineous population with a high significant increase in the prevalence of common adult diseases such as diabetes mellitus, cancer, blood disorders, mental disorders, heart diseases, asthma, gastro-intestinal disorders, hypertension, hearing deficit, G6PD and common eye diseases. This confirms the role of genetic factors across the full spectrum of disease and not only for Mendelian disorders