Literature DB >> 32172699

An invincible memory: what surname analysis tells us about history, health and population medical genetics in the Brazilian Northeast.

Augusto César Cardoso-Dos-Santos1,2, Virginia Ramallo3, Marcelo Zagonel-Oliveira4, Maurício Roberto Veronez4, Pablo Navarro3, Isabella L Monlleó5, Victor Hugo Valiati4, José Edgardo Dipierri6, Lavinia Schuler-Faccini1,2.   

Abstract

Several studies have shown that the Brazilian Northeast is a region with high rates of inbreeding as well as a high incidence of autosomal recessive diseases. The elaboration of public health policies focused on the epidemiological surveillance of congenital anomalies and rare genetic diseases in this region is urgently needed. However, the vast territory, socio-demographic heterogeneity, economic difficulties and low number of professionals with expertise in medical genetics make strategic planning a challenging task. Surnames can be compared to a genetic system with multiple neutral alleles and allow some approximation of population structure. Here, surname analysis of more than 37 million people was combined with health and socio-demographic indicators covering all 1794 municipalities of the nine states of the region. The data distribution showed a heterogeneous spatial pattern (Global Moran Index, GMI = 0.58; p < 0.001), with higher isonymy rates in the east of the region and the highest rates in the Quilombo dos Palmares region - the largest conglomerate of escaped slaves in Latin America. A positive correlation was found between the isonymy index and the frequency of live births with congenital anomalies (r = 0.268; p < 0.001), and the two indicators were spatially correlated (GMI = 0.50; p < 0.001). With this approach, quantitative information on the genetic structure of the Brazilian Northeast population was obtained, which may represent an economical and useful tool for decision-making in the medical field.

Entities:  

Keywords:  Geographic distribution; Population medical genetics; Population structure

Mesh:

Year:  2020        PMID: 32172699     DOI: 10.1017/S0021932020000127

Source DB:  PubMed          Journal:  J Biosoc Sci        ISSN: 0021-9320


  1 in total

1.  So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity.

Authors:  Reinaldo Luna de Omena Filho; Reginaldo José Petroli; Fernanda Caroline Soardi; Débora de Paula Michelatto; Taís Nitsch Mazzola; Helena Fabbri-Scallet; Maricilda Palandi de Mello; Susane Vasconcelos Zanotti; Ida Cristina Gubert; Isabella Monlleo
Journal:  Ital J Pediatr       Date:  2022-06-10       Impact factor: 3.288

  1 in total

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