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


Journal

Journal of biosocial science
ISSN: 1469-7599
Titre abrégé: J Biosoc Sci
Pays: England
ID NLM: 0177346

Informations de publication

Date de publication:
03 2021
Historique:
pubmed: 17 3 2020
medline: 7 7 2021
entrez: 17 3 2020
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 32172699
pii: S0021932020000127
doi: 10.1017/S0021932020000127
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

183-198

Auteurs

Augusto César Cardoso-Dos-Santos (AC)

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 (V)

Patagonian Institute of Social and Human Sciences (CCT CENPAT-CONICET), Puerto Madryn, Argentina.

Marcelo Zagonel-Oliveira (M)

Universidade do Vale do Rio dos Sinos, São Leopoldo, Brazil.

Maurício Roberto Veronez (MR)

Universidade do Vale do Rio dos Sinos, São Leopoldo, Brazil.

Pablo Navarro (P)

Patagonian Institute of Social and Human Sciences (CCT CENPAT-CONICET), Puerto Madryn, Argentina.

Isabella L Monlleó (IL)

Medical Genetics Service, Faculty of Medicine, Hospital Universitário Professor Alberto Antunes, Universidade Federal de Alagoas, Maceió, Brazil.

Victor Hugo Valiati (VH)

Universidade do Vale do Rio dos Sinos, São Leopoldo, Brazil.

José Edgardo Dipierri (JE)

Institute of Andean Ecoregions (INECOA, CONICET-UNJu), San Salvador de Jujuy, Argentina.

Lavinia Schuler-Faccini (L)

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.

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Classifications MeSH