Admixture estimates for the population of Havana City

Cintado, Alberto; Companioni, Osmel; Nazabal, Marcelo; Camacho, Hanlet; Ferrer, Annia; Cossío, María E Fernández de; Marrero, A.; Ale, Mayte; Villarreal, Adelaida; Leal, Lester; Casalvilla, Racmar; Benítez, Jesús; Novoa, Lidia I; Diaz-Horta, Oscar; Dueñas, Marta

doi:10.1080/03014460902817984

Cited by 27 publications

(18 citation statements)

References 29 publications

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“…Recent studies have demonstrated the important European/African contribution to the genetic composition of the Cuban population, indicating that admixture must be considered (Mendizabal et al, 2008;Cintado et al, 2009;Teruel et al, 2011). Thus, in analyzing the differences between the frequencies of individual LSDs found here and those of other studies, one has to take into account, not only the level of consanguinity and the possible genetic specificities of different populations, which occur worldwide, but also the genetic admixture of the Cuban population, not present in other epidemiological studies.…”

Section: Discussionmentioning

confidence: 99%

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

et al. 2012

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Section: Discussionmentioning

confidence: 99%

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

et al. 2012

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“…This is reflected in the gene pool of the present inhabitants of the Caribbean archipelago, as shown in recent studies using autosomal, mtDNA and Y-chromosome markers [1]–[7]. However, very few studies have focused on Cuba, the largest island of the Greater Antilles [8], [9].…”

Section: Introductionmentioning

confidence: 99%

Cuba: Exploring the History of Admixture and the Genetic Basis of Pigmentation Using Autosomal and Uniparental Markers

et al. 2014

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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.

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“…The indigenous population was reputedly extinct by 1700. While the ancestral Native American substrate is still appreciable in the maternal lineages, the extensive process of population admixture in Cuba has left no trace of paternal Native American lineages, mirroring the strong sexual bias in the admixture processes taking place during colonial times [20]; currently Native American admixture is minimal [21]. Importation of slaves from West Africa was current by 1600 and not abolished until 1886.…”

Section: Introductionmentioning

confidence: 99%

“…The proportion of population identified as black or mixed rose from 34% in 1774 to 57% by 1817. Recent Cuban studies concur in identifying average proportions of African admixture in those who classify themselves as white, mixed race and black as, respectively, about 5%, 35% and 60% [20,21]. European admixture among African-Americans is much lower, an average of between 12% and 20% in different US cities [22] and very few African-Americans have as much as 50% European ancestry [23].…”

Section: Introductionmentioning

confidence: 99%

Interactions between genetic admixture, ethnic identity, APOE genotype and dementia prevalence in an admixed Cuban sample; a cross-sectional population survey and nested case-control study

Teruel

Rodríguez

et al. 2011

BMC Med Genet

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BackgroundThe prevalence and incidence of dementia are low in Nigeria, but high among African-Americans. In these populations there is a high frequency of the risk-conferring APOE-e4 allele, but the risk ratio is less than in Europeans. In an admixed population of older Cubans we explored the effects of ethnic identity and genetic admixture on APOE genotype, its association with dementia, and dementia prevalence.MethodsA cross-sectional catchment area survey of 2928 residents aged 65 and over, with a nested case-control study of individual admixture. Dementia diagnosis was established using 10/66 Dementia and DSM-IV criteria. APOE genotype was determined in 2520 participants, and genetic admixture in 235 dementia cases and 349 controls.ResultsMean African admixture proportions were 5.8% for 'white', 28.6% for 'mixed' and 49.6% for 'black' ethnic identities. All three groups were substantially admixed with considerable overlap. African admixture was linearly related to number of APOE-e4 alleles. One or more APOE-e4 alleles was associated with dementia in 'white' and 'black' but not 'mixed' groups but neither this, nor the interaction between APOE-e4 and African admixture (PR 0.52, 95% CI 0.13-2.08) were statistically significant. Neither ethnic identity nor African admixture was associated with dementia prevalence when assessed separately. However, considering their joint effects African versus European admixture was independently associated with a higher prevalence, and 'mixed' or 'black' identity with a lower prevalence of dementia.ConclusionsAPOE genotype is strongly associated with ancestry. Larger studies are needed to confirm whether the concentration of the high-risk allele in those with African ancestry is offset by an attenuation of its effect. Counter to our hypothesis, African admixture may be associated with higher risk of dementia. Although strongly correlated, effects of admixture and ethnic identity should be distinguished when assessing genetic and environmental contributions to disease risk in mixed ancestry populations.

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Admixture estimates for the population of Havana City

Abstract: Our findings indicate the existence of admixture and genetic structure in the population of Havana City. This study represents one of the first steps towards understanding Cuban population admixture in order to produce successful experimental designs for admixture mapping.

Cited by 27 publications

References 29 publications

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

Cuba: Exploring the History of Admixture and the Genetic Basis of Pigmentation Using Autosomal and Uniparental Markers

Interactions between genetic admixture, ethnic identity, APOE genotype and dementia prevalence in an admixed Cuban sample; a cross-sectional population survey and nested case-control study

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