Consanguinity and genetic diseases in Brazil: an overview

Consanguineous marriages have been practiced for thousands of years in many communities throughout the world. Birth defects contribute significantly to infant mortality rate (IMR), and they may be associated with consanguinity. Therefore, the objective of this review is to compile an overview of the findings on consanguinity and genetic diseases in the population of Brazil. We collect data from PubMed (January ۲۰۰۰ to July ۲۰۲۰), and data from the Modell Global Database of Congenital Disorders (MGDb) estimates for ۲۰۱۰-۲۰۱۴ in the Americas. The PubMed database yielded ۱۹۹ results that met the inclusion/ exclusion criteria search. We observe a higher risk ratio (RR: ۴.۱۶, ۹۵% CI ۴.۰۷-۴.۲۵) for consanguineous marriages compared with two other Brazilian studies. The highest coefficient of consanguinity was found in the city of Lagoa (F = ۰.۰۱۱۸۲), state of Paraíba. In the same period (۲۰۱۰-۲۰۱۴), the coefficient of consanguinity was ۰.۰۰۲۷, while the IMR was ۲۰.۳/۱,۰۰۰ live births in Brazil. The Kruskal-Wallis test used to compare Brazil and others country’s estimates was also statistically significant (H = ۷۳.۵۵, p<۰.۰۰۰۱). Fifteen genetic diseases associated with consanguinity have been observed. Among these, a new mutation in pycnodysostosis disease (#۲۶۵۸۰۰, CTSK gene, c.۹۵۳G>A), and Raine syndrome (#۲۵۹۷۷۵, FAM۲۰C, c.۱۴۸۷C>T; p.P۴۹۶L) are the diseases that stand out. With these results, we believe that the public health system should be working directly with the local communities in actions that include the creation of banks of genes/mutations related to consanguineous couples, neonatal screening and health education.

کلیدواژه ها:

Coefficient of consanguinity ، consanguineous marriages ، Genetic Diseases ، Infant Mortality ، Brazil