Abstract
Ethnicity has been associated with the incidence of diseases and consequently it is a cornerstone in medical genetic studies. It is mainly important in admixture populations, where the population stratification can produce spurious results that lead to erroneous conclusions. Consequently, population stratification has become one of the most important confounding factors in population-based genetic association studies, especially in Latino populations. Cartagena de Indias is a cosmopolitan city with dissimilar ancestry proportions due to recent miscegenation. This population mainly exhibits African and Amerindian matrilineal ancestries. Nevertheless, important asymmetries in the paternal genetic history related to the complex patterns of migration in the colonial period increase the male genetic diversity in this population. As a result of this recent admixture, population stratification has arisen, where each subpopulation is not equally represented. Consequently, the allele differences between cases and controls could be related with different frequencies among different population strata rather than the association of the genes with the disease. In order to define the patrilineal substructure of the Cartagena’s population, a total of 130 unrelated men were ancestrally studied using 15 Y-STR loci routinely employed in anthropological, forensic and population genetics. Our results show that Cartagena is an admixture population consisting of European (80%), Amerindian (10%) and African ancestries (10%), which are represented by haplogroups R1b and I2a (xI2a1), Q-M242/Q-M3, and E1b1a/E1b1b, respectively. Complex genetic patterns found in Cartagena’s population emphasize the importance to know the genetic variation in order to diminish the inconsistence for future genetic association studies. In addition, our findings illustrate the complex genetic background of Cartagena population and reinforce the need to encompass more geographic regions to generate more robust data for anthropological and forensic applications.
Highlights
IntroductionCartagena is one of the oldest cities on the Colombian Caribbean coast founded in 1533 by Spanish conquerors [1]
Cartagena de Indias is a city in the north of Colombia located on the shores of the Caribbean Sea and is the capital of the Department of Bolivar
We analyzed the STR genetic data of 130 unrelated individuals born in Cartagena de Indias, Colombia with at least three generations of ancestors who had been born in this city (Figure 1)
Summary
Cartagena is one of the oldest cities on the Colombian Caribbean coast founded in 1533 by Spanish conquerors [1]. The ethnic composition of Cartagena is the result of a three-hybrid fusion: the native aborigines known as the Calamari; the European conquerors (principally from Spain); and the African slaves [3]. This ancestral admixture has predominantly resulted in a mulatto, mestizo, Amerindian, and Afro-descendant population. Recent evidences show a disproportionate contribution of European males and Amerindian females, provoking a sex bias in admixture proportions [4] [5]
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