Gene geography of Chile. Regional distribution of American, European and African genetic contributions

Fuentes M.; Pulgar, I; Gallo, C; Bortolini, MC; Canizales-Quinteros, S; Bedoya, G; Gonzalez-Jose, R; Ruiz-Linares, A; ROTHHAMMER, F.

Abstract

Background: The geographical distribution of genes plays a key role in genetic epidemiology. The Chilean population has three major stem groups (Native American, European and African). Aim: To estimate the regional rate of American, European and African admixture of the Chilean population. Subjects and Methods: Forty single nucleotide polymorphisms (SNP's) which exhibit substantially different frequencies between Amerindian populations (ancestry-informative markers or AIM's), were genotyped in a sample of 923 Chilean participants to estimate individual genetic ancestry. Results: The American, European and African individual average admixture estimates for the 15 Chilean Regions were relatively homogeneous and not statistically different. However, higher American components were found in northern and southern Chile and higher European components were found in central Chile. A negative correlation between African admixture and latitude was observed. On the average, American and European genetic contributions were similar and significantly higher than the African contribution. Weighted mean American, European and African genetic contributions of 44.34% +/- 39%, 51.85% +/- 5.44% and 3.81% +/- 0.45%, were estimated. Fifty two percent of subjects harbor African genes. Individuals with Aymara and Mapuche surnames have an American admixture of 58.64% and 68.33%, respectively. Conclusions: Half of the Chilean population harbors African genes. Participants with Aymara and Mapuche surnames had a higher American genetic contribution than the general Chilean population. These results confirm the usefulness of surnames as a first approximation to determine genetic ancestry.

Más información

Título según WOS: Gene geography of Chile. Regional distribution of American, European and African genetic contributions
Título de la Revista: REVISTA MEDICA DE CHILE
Volumen: 142
Número: 3
Editorial: SOC MEDICA SANTIAGO
Fecha de publicación: 2014
Página de inicio: 281
Página final: 289
Idioma: Spanish
Notas: ISI