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

• Published in: Journal of biosocial science Vol. 53; no. 2; pp. 183 - 198
• Main Authors: Cardoso-Dos-Santos, Augusto César, Ramallo, Virginia, Zagonel-Oliveira, Marcelo, Veronez, Maurício Roberto, Navarro, Pablo, Monlleó, Isabella L, Valiati, Victor Hugo, Dipierri, José Edgardo, Schuler-Faccini, Lavinia
• Format: Journal Article
• Language: English
• Published: England Cambridge University Press 01.03.2021
• Subjects: Births; Congenital anomalies; Congenital defects; Congenital diseases; Decision making; Disease; Elaboration; Epidemiology; Genetic disorders; Genetic structure; Genetics; Health status; Inbreeding; Indexes; Inheritances; Medical decision making; Medical genetics; Medicine; Personal names; Population; Population genetics; Population structure; Public health; Slavery; Sociodemographics; Strategic planning; Surveillance; Womens health; Rio Grande do Norte Brazil; Brazil; Geographic distribution; Population structure; Population medical genetics
• ISSN: 0021-9320; 1469-7599
• DOI: 10.1017/S0021932020000127

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.