• Macarena Fuentes, Iván Pulgar, Carla Gallo, María-Cátira Bortolini, Samuel Canizales-Quinteros, Gabriel Bedoya, Rolando González-José, Andrés Ruiz-Linares, and Francisco Rothhammer.
• Rev Med Chil. 2014 Mar 1; 142 (3): 281289281-9.

BackgroundThe geographical distribution of genes plays a key role in genetic epidemiology. The Chilean population has three major stem groups (Native American, European and African).AimTo estimate the regional rate of American, European and African admixture of the Chilean population.Subjects And MethodsForty 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.ResultsThe 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% ± 3 9%, 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.ConclusionsHalf 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.

15 keywords...

hide…