scholarly journals Y Haplogroup Diversity of the Dominican Republic: Reconstructing the Effect of the European Colonization and the Trans-Atlantic Slave Trades

2020 ◽  
Vol 12 (9) ◽  
pp. 1579-1590
Author(s):  
Eugenia D’Atanasio ◽  
Flavia Trionfetti ◽  
Maria Bonito ◽  
Daniele Sellitto ◽  
Alfredo Coppa ◽  
...  

Abstract The Dominican Republic is one of the two countries on the Hispaniola island, which is part of the Antilles. Hispaniola was affected by the European colonization and massive deportation of African slaves since the XVI century and these events heavily shaped the genetic composition of the present-day population. To shed light about the effect of the European rules, we analyzed 92 single nucleotide polymorphisms on the Y chromosome in 182 Dominican individuals from three different locations. The Dominican Y haplogroup composition was characterized by an excess of northern African/European lineages (59%), followed by the African clades (38%), whereas the Native-American lineages were rare (3%). The comparison with the mitochondrial DNA variability, dominated by African clades, revealed a sex-biased admixture pattern, in line with the colonial society dominated by European men. When other Caribbean and non-Caribbean former colonies were also considered, we noted a difference between territories under a Spanish rule (like the Dominican Republic) and British/French rule, with the former characterized by an excess of European Y lineages reflecting the more permissive Iberian legislation about mixed people and slavery. Finally, we analyzed the distribution in Africa of the Dominican lineages with a putative African origin, mainly focusing on central and western Africa, which were the main sources of African slaves. We found that most (83%) of the African lineages observed in Santo Domingo have a central African ancestry, suggesting that most of the slaves were deported from regions.

2011 ◽  
Vol 130 (11) ◽  
pp. 2740-2742 ◽  
Author(s):  
Chang Sun ◽  
Dezheng Huo ◽  
Barbara Nemesure ◽  
Anselm Hennis ◽  
M. Cristina Leske ◽  
...  

2011 ◽  
Vol 132 (1) ◽  
pp. 341-345 ◽  
Author(s):  
Yonglan Zheng ◽  
Temidayo O. Ogundiran ◽  
Clement Adebamowo ◽  
Katherine L. Nathanson ◽  
Susan M. Domchek ◽  
...  

Hypertension ◽  
2020 ◽  
Vol 76 (Suppl_1) ◽  
Author(s):  
Nora Franceschini ◽  
Thu H Le

Introduction: The global deletion of collectrin encoded by the TMEM27 gene leads to endothelial dysfunction, salt sensitivity and hypertension. To translate experimental findings to population studies, we studied the association of single nucleotide polymorphisms (SNPs) with blood pressure (BP) traits. Methods: We examined the SNP associations within TMEM27 with BP traits in 11,926 Hispanics/Latinos. BP was measured during a clinic visit and two measures were averaged. Genotypes were imputed from 1000 Genomes Project (1000G). Analyses were stratified by sex, given TMEM27 is located on the chromosome X. We used linear or logistic mixed models for association analyses with systolic and diastolic BP, or hypertension, respectively, in models adjusted for age, body mass index, relatedness and population stratification. Results: The mean age was 46 years-old (standard deviation 14), 41% were men, 28% had hypertension (BP> 140/90 mm Hg). Two intronic SNPs were associated with BP traits in men but not women, when adjusting for multiple testing (Table). SNP rs5936004 associated with lower diastolic BP is more common in Admixed Americans in the 1000G samples (minor allele frequency [MAF] 0.15), and low frequency in European and African ancestry (0.02 and 0.04). SNP rs183583165 is more common in 1000G African sample (MAF 0.03) but rare in other populations. These SNPs were not in linkage disequilibrium with SNPs in the nearby ACE2 gene, which has a role in BP control. Conclusion: This study identified associations of TMEM27 SNPs with BP traits in Hispanic/Latino men but not women, for variants present in higher frequency in Amerindian and African ancestries.


2011 ◽  
Vol 146 (4) ◽  
pp. 495-502 ◽  
Author(s):  
Judith R. Kidd ◽  
Françoise Friedlaender ◽  
Andrew J. Pakstis ◽  
Manohar Furtado ◽  
Rixun Fang ◽  
...  

2019 ◽  
Vol 08 (01) ◽  
pp. 038-040
Author(s):  
Alejandro Boëchat-Fernandes ◽  
Rosângela Réa ◽  
Nicole Romanzini ◽  
Marilia Gomes ◽  
Lupe Furtado-Alle ◽  
...  

AbstractThe aim of this study was to investigate the relationship of two single nucleotide polymorphisms (SNPs) in the interleukin-18 (IL18) gene (rs187238, g.-137G > C; rs1946518, g.-607C > A) and one SNP of the IL12B gene (rs3212227 g.*159A > C, 3′UTR) with the age of onset for type 1 diabetes mellitus (DM1). A total of 1,101 patients with DM1 enrolled in 13 centers from different regions of Brazil were genotyped with TaqMan assay and classified according to the ancestry. Our results show that an SNP in IL18 gene could be associated with DM1 age onset, taking into account that this studied variation affects gene expression.


2004 ◽  
Vol 40 ◽  
pp. 157-167 ◽  
Author(s):  
Maria Nilsson ◽  
Karin Dahlman-Wright ◽  
Jan-Åke Gustafsson

For several decades, it has been known that oestrogens are essential for human health. The discovery that there are two oestrogen receptors (ERs), ERalpha and ERbeta, has facilitated our understanding of how the hormone exerts its physiological effects. The ERs belong to the family of ligand-activated nuclear receptors, which act by modulating the expression of target genes. Studies of ER-knockout (ERKO) mice have been instrumental in defining the relevance of a given receptor subtype in a certain tissue. Phenotypes displayed by ERKO mice suggest diseases in which dysfunctional ERs might be involved in aetiology and pathology. Association between single-nucleotide polymorphisms (SNPs) in ER genes and disease have been demonstrated in several cases. Selective ER modulators (SERMs), which are selective with regard to their effects in a certain cell type, already exist. Since oestrogen has effects in many tissues, the goal with a SERM is to provide beneficial effects in one target tissue while avoiding side effects in others. Refined SERMs will, in the future, provide improved therapeutic strategies for existing and novel indications.


2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan

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