Genetics and genomic medicine in Cuba

Balbuena, Hilda Roblejo; Teruel, Beatriz Marcheco

doi:10.1002/mgg3.299

Cited by 7 publications

(3 citation statements)

References 5 publications

(8 reference statements)

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“…higher Native American ancestry in Granma, Holguin and Las Tunas, and higher African ancestry in Guantanamo and Santiago de Cuba). Therefore, the extensive genetic structure observed within and between Cuban regions emphasizes the need to ensure appropriate representation of ancestrally diverse individuals in future biomedical and genetic association studies in Cuba 20 , 57 . For the African gene-flow, our subcontinental ancestry analyses point to populations from West-Central Africa and the Bights of Benin and Biafra regions as the major source populations of the African ancestral gene pool in Cuba.…”

Section: Discussionmentioning

confidence: 99%

Exploring Cuba’s population structure and demographic history using genome-wide data

Fortes-Lima

Bybjerg‐Grauholm

Marín-Padrón

et al. 2018

Sci Rep

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Cuba is the most populated country in the Caribbean and has a rich and heterogeneous genetic heritage. Here, we take advantage of dense genomic data from 860 Cuban individuals to reconstruct the genetic structure and ancestral origins of this population. We found distinct admixture patterns between and within the Cuban provinces. Eastern provinces have higher African and Native American ancestry contributions (average 26% and 10%, respectively) than the rest of the Cuban provinces (average 17% and 5%, respectively). Furthermore, in the Eastern Cuban region, we identified more intense sex-specific admixture patterns, strongly biased towards European male and African/Native American female ancestries. Our subcontinental ancestry analyses in Cuba highlight the Iberian population as the best proxy European source population, South American and Mesoamerican populations as the closest Native American ancestral component, and populations from West Central and Central Africa as the best proxy sources of the African ancestral component. Finally, we found complex admixture processes involving two migration pulses from both Native American and African sources. Most of the inferred Native American admixture events happened early during the Cuban colonial period, whereas the African admixture took place during the slave trade and more recently as a probable result of large-scale migrations from Haiti.

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Section: Discussionmentioning

confidence: 99%

Exploring Cuba’s population structure and demographic history using genome-wide data

Fortes-Lima

Bybjerg‐Grauholm

Marín-Padrón

et al. 2018

Sci Rep

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“…This program started in the 1980s. The services are implemented through a community genetics network that currently has 168 municipal genetics services, 15 provincial services and the National Center of Medical Genetics in Havana city [8]. Since 1985, the Cuban Registry of Congenital Malformations (RECUMAC, for its name in Spanish) has been used as a research program for BDs that allows establishing a system of clinical and epidemiological surveillance of them in the hospital births.…”

Section: Introductionmentioning

confidence: 99%

“…This record includes all live births or still births weighing 500 grams or more with one or more major BDs upon physical exam during the first 24 hours after birth. The information in this registry continues to grow, covering up to 96% of the total births in the country [8].…”

Section: Introductionmentioning

confidence: 99%

Geospatial and Temporal Clustering of Folic Acid- Sensitive Congenital Defects in Villa Clara Province, Cuba

Lugo¹

2020

BJSTR

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Introduction: Geospatial and temporal clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time.Objectives: to determine the birth prevalence rate of birth defects sensitive to folic acid deficiency and to identify, describe, and characterize potential geospatial and temporal clusters of these birth defects in Villa Clara province, Cuba. Methods:The cases were ascertained from 46 007 total births, record of 267 cases with prenatal or postnatal diagnosis of five folic acid-sensitive selected birth defect were acquired based on hospital registers and community based registers too. Spatial scan statistic was used to determine areas of the province with spatial and temporal clusters for the birth defects sensitive to folic acid deficiency under study. Results:The overall adjusted birth prevalence was 58.0 per 10 000 births. The highest prevalence rate occurred in conotroncal heart defects, followed by Down syndrome and neural tube defects, meanwhile orofacial clefts and gastroschisis shown the lowest prevalence rates. Overall, the prevalence of folic acid-sensitive congenital defects under study declined over the six years of the study. A primary spatial and spatio-temporal cluster for the birth defects under study was identified in two neighboring municipalities and secondary spatial clusters were identified in another three municipalities. Conclusion:Identification of birth defects geospatial clusters must be faced recognizing that such challenge is in fact an opportunity to achieve a better knowledge of causes of these birth defects.

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