Frequencies of the Four Major Amerindian mtDNA Haplogroups in the Population of Montevideo, Uruguay

Gascue, Cecilia; Mimbacas, Adriana; Sans, Mónica; Gallino, Juan Pablo; Bertoni, Bernardo; Hidalgo, Pedro; Cardoso, Horacio

doi:10.1353/hub.2006.0015

Cited by 24 publications

(27 citation statements)

References 14 publications

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“…Interestingly, similar results have been reported in one Chilean study and a few studies from Spain and Italy [18,28,[37][38][39]. This similarity may be explained, at least in part, by the genetic composition of the Uruguayan population, which results of an admixture of Europeans (80-90%), mainly Spanish (but also includes Italian and in a less degree French, German and Arabs), Amerindian peoples (10-15%), and African peoples (6-15%) [14,15]. Therefore, our results, if confirmed, highlight the strong dependence between the mutational spectra and the ethnicity of the population analyzed.…”

Section: Discussionmentioning

confidence: 86%

“…The frequencies differ significantly between the capital and some other cities of the country, like Tacuarembó, where the percentages of Amerindian and African contributions are higher than in the capital, 20 versus 1% for Amerindian and 15 versus 8% for Africans [14]. When mitochondrial DNA polymorphisms were studied, these percentages were more elevated, being the mean values for the country, 34% for Amerindians and 8 to 17% for Africans [15]. This suggests that mixed couples resulted primarily from the paring of Amerindian females with European males.…”

Section: Introductionmentioning

confidence: 99%

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BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast–ovarian cancer families. Identification of novel mutations and unclassified variants

Delgado¹,

Fernandez²,

Grotiuz³

et al. 2010

Breast Cancer Res Treat

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The aim of the present study was to analyze BRCA1 and BRCA2 mutations in Uruguayan families with breast and breast/ovarian cancer. Probands from 42 families with at least three cases of female breast cancer (BC) or two cases and subcriteria (paternal transmission, ovarian cancer, bilateral BC, male BC, Ashkenazi Jewish ancestry) in the same lineage, at least one diagnosed before age 50, were screened for germline mutations. PCR amplification of all exons and intron-exon boundaries were performed, followed by protein truncation test, heteroduplex analysis, and direct sequencing. We identified seven different truncating mutations in seven families, five in BRCA2 (three in site-specific BC families and two in breast-ovarian cancer families) and two in BRCA1 (one in a site-specific BC family and the other in a breast-ovarian cancer family). Both BRCA1 mutations (5583insT and 2687T>G) and one of the five BRCA2 mutations (3829insTdel35) were not previously reported. We also detected ten sequence variants of unknown significance, five of them not described before. The low frequency of BRCA1/2 mutations (0.17) is in agreement with that reported in studies which included families with similar selection criteria. However, the observed predominance of BRCA2 (0.12) over BRCA1 mutations (0.05) is in contrast with the higher proportion of BRCA1 mutations communicated for most previous studies, even those with a predominance of site-specific BC families. Meanwhile, it has been described in one Chilean and some Spanish and Italian reports, highlighting the strong dependence between the mutational spectra and the ethnicity of the population analyzed.

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Section: Discussionmentioning

confidence: 86%

Section: Introductionmentioning

confidence: 99%

BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast–ovarian cancer families. Identification of novel mutations and unclassified variants

Delgado¹,

Fernandez²,

Grotiuz³

et al. 2010

Breast Cancer Res Treat

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“…The entire scale candidate gene studies published so far on diabetes have not performed a combined analysis of both types of diabetes and not used admixed populations as Uruguayan ones. We consider that the Uruguayan population can provide useful information for epidemiological studies (Cardoso et al, 2004;Gascue et al, 2005;Mimbacas et al, 2003Mimbacas et al, , 2004Mimbacas et al, , 2007.…”

Section: Discussionmentioning

confidence: 99%

“…Allowing for possible dropouts and technical problems during follow-up, we recruited 338 individuals selected at random among unrelated patients from the major reference medical health institutions attending diabetes (Luzardo et al, 2002); the inclusion of public and private health centers allowed us to stratify the population according to socio-economic categories. We chose this strategy because our country has a unique admixed population composed of three ethnic groups (Cardoso et al, 2004;Gascue et al, 2005;Mimbacas et al, 2003Mimbacas et al, , 2004Mimbacas et al, , 2007.…”

Section: Methodsmentioning

confidence: 99%

Genotype and phenotype correlations in diabetic patients in Uruguay

Mimbacas¹,

García²,

Zorrilla³

et al. 2009

Genet. Mol. Res.

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ABSTRACT.To differentiate among different types of diabetes is becoming an increasingly challenging task. We investigated whether the patient's genetic profile is useful to identify the particular type of diabetes, to determine the corresponding hyperglycemia pathogenesis and treat accordingly. Three hundred and thirty-eight diabetic patients, diagnosed according to American Diabetes Association criteria, were recruited from 2004 to 2008 in diabetes health reference centers. We analyzed the major gene for type 1 diabetes susceptibility (HLA DQ/DR). In order to improve our understanding of the pathogenesis of the resulting hyperglycemia and to implement a more adequate treatment for the patients, we reclassified our sample ac- Genotype and phenotype correlations in diabetic patients cording to the presence or absence of the genetic markers. We found that a higher percentage of people than expected have immunological disease, independent of their phenotype, with a relative risk of 4.62 (95% confidence interval). This methodology allowed us to establish an association between the genotype and its resulting phenotype. We found significant differences; the phenotypic classification did not reflect immunological disease based on genotype. Moreover, when we examined markers, body mass index and age of onset, we found that many people have an intermediate phenotype between type 1 and type 2. This genetic data can help provide an accurate definition of the disease and would therefore provide the physician a better possibility of providing adequate treatment.

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“…Previous research has shown that the Uruguayan population has a particular genetic behavior; in addition to its small size (three millions inhabitants), it presents such a high level of miscegenation that there are individuals that cannot currently identify their ancestors' origin. It has a tri-hybrid origin (Caucasoid, African and Amerindian) but, unlike other Latin-American countries, we do not isolate Amerindian groups Gascue et al, 2005;Mimbacas et al, 2003Mimbacas et al, , 2004Mimbacas et al, , 2007Mimbacas et al, , 2009Sans et al, 2011). Thus, this would permit us to think a priori that ethnological factors would (at least in part) cancel each other, therefore eliminating their possible blurring effect on the analysis.…”

Section: Miscegenated Populationmentioning

confidence: 90%