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

Published online by Cambridge University Press:  16 March 2020

Augusto César Cardoso-dos-Santos Open the ORCID record for Augusto César Cardoso-dos-Santos [Opens in a new window] ,
Virginia Ramallo ,
Marcelo Zagonel-Oliveira ,
Maurício Roberto Veronez Open the ORCID record for Maurício Roberto Veronez [Opens in a new window] ,
Pablo Navarro ,
Isabella L. Monlleó ,
Victor Hugo Valiati ,
José Edgardo Dipierri  and
Lavinia Schuler-Faccini Open the ORCID record for Lavinia Schuler-Faccini [Opens in a new window]
Augusto César Cardoso-dos-Santos
Affiliation:
Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil INAGEMP – Instituto Nacional de Genética Médica Populacional, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
Virginia Ramallo
Affiliation:
Patagonian Institute of Social and Human Sciences (CCT CENPAT-CONICET), Puerto Madryn, Argentina
Marcelo Zagonel-Oliveira
Affiliation:
Universidade do Vale do Rio dos Sinos, São Leopoldo, Brazil
Maurício Roberto Veronez
Affiliation:
Universidade do Vale do Rio dos Sinos, São Leopoldo, Brazil
Pablo Navarro
Affiliation:
Patagonian Institute of Social and Human Sciences (CCT CENPAT-CONICET), Puerto Madryn, Argentina
Isabella L. Monlleó
Affiliation:
Medical Genetics Service, Faculty of Medicine, Hospital Universitário Professor Alberto Antunes, Universidade Federal de Alagoas, Maceió, Brazil
Victor Hugo Valiati
Affiliation:
Universidade do Vale do Rio dos Sinos, São Leopoldo, Brazil
José Edgardo Dipierri
Affiliation:
Institute of Andean Ecoregions (INECOA, CONICET-UNJu), San Salvador de Jujuy, Argentina
Lavinia Schuler-Faccini*
Affiliation:
Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil INAGEMP – Instituto Nacional de Genética Médica Populacional, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
*
*Corresponding author. Email: lavinia.faccini@ufrgs.br
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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.

Keywords

Population structurePopulation medical geneticsGeographic distribution
Type
Research Article
Information
Journal of Biosocial Science , Volume 53 , Issue 2 , March 2021 , pp. 183 - 198
Copyright
© The Author(s) 2020. Published by Cambridge University Press

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