Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers

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  • Beatriz Marcheco-Teruel, National Centre of Medical Genetics, Medical University of Havana, La Habana, Cuba.
  • ,
  • Esteban J Parra, Department of Anthropology, University of Toronto at Mississauga, Mississauga, Ontario, Canada., Unknown
  • Evelyn Fuentes-Smith, National Centre of Medical Genetics, Medical University of Havana, La Habana, Cuba.
  • ,
  • Antonio Salas, Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain., Unknown
  • Henriette N Buttenschøn
  • Ditte Demontis
  • María Torres-Español, Centro Nacional de Genotipado (ISCIII), Nodo Santiago de Compostela, Santiago de Compostela, Spain., Unknown
  • Lilia C Marín-Padrón, National Centre of Medical Genetics, Medical University of Havana, La Habana, Cuba., Unknown
  • Enrique J Gómez-Cabezas, Centro de Investigaciones Psicológicas y Sociológicas, La Habana, Cuba., Unknown
  • Vanesa Alvarez-Iglesias, Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain., Unknown
  • Ana Mosquera-Miguel, Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain., Unknown
  • Antonio Martínez-Fuentes, Departamento de Antropología, Facultad de Biología, Universidad de La Habana, La Habana, Cuba., Unknown
  • Angel Carracedo, Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain; Centro Nacional de Genotipado (ISCIII), Nodo Santiago de Compostela, Santiago de Compostela, Spain; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
  • ,
  • Anders D Børglum
  • Ole Mors

We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in order to evaluate admixture using uniparental markers. Finally, we analyzed the association of 16 single nucleotide polymorphisms (SNPs) with quantitative estimates of skin pigmentation. In the total sample, the average European, African and Native American contributions as estimated from autosomal AIMs were 72%, 20% and 8%, respectively. The Eastern provinces of Cuba showed relatively higher African and Native American contributions than the Western provinces. In particular, the highest proportion of African ancestry was observed in the provinces of Guantánamo (40%) and Santiago de Cuba (39%), and the highest proportion of Native American ancestry in Granma (15%), Holguín (12%) and Las Tunas (12%). We found evidence of substantial population stratification in the current Cuban population, emphasizing the need to control for the effects of population stratification in association studies including individuals from Cuba. The results of the analyses of uniparental markers were concordant with those observed in the autosomes. These geographic patterns in admixture proportions are fully consistent with historical and archaeological information. Additionally, we identified a sex-biased pattern in the process of gene flow, with a substantially higher European contribution from the paternal side, and higher Native American and African contributions from the maternal side. This sex-biased contribution was particularly evident for Native American ancestry. Finally, we observed that SNPs located in the genes SLC24A5 and SLC45A2 are strongly associated with melanin levels in the sample.

Original languageEnglish
JournalP L o S Genetics
Volume10
Issue7
Pages (from-to)e1004488
ISSN1553-7390
DOIs
Publication statusPublished - Jul 2014

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