Polimorfismo del gen de la banda 3 eritrocítica en grupos étnicos de Costa Rica

Chaves-Villalobos, M; Jiménez-Arce, Gerardo; Sandí-Díaz, M

doi:10.15517/rbt.v1i2.15353

Cited by 3 publications

(3 citation statements)

References 13 publications

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“…In the last decade, this population, and particularly the Costa Rican Central Valley population (CRCV), has received the attention of numerous studies on genetic diseases (Santos et al 1996, Herrmann et al 1997, Kurtz et al 1997, Shah et al 1997, Thiart et al 1997, Barrantes 1998, Bech-Hansen et al 2000, Kolosha et al 2000, Solís 2000, Morales-Montero et al 2003, Sobacchi et al 2001, Leal et al 2003, Mitui et al 2003, Sharp et al 2003, Soley et al 2003, Venegas et al 2003, Azofeifa 2004, Boza et al 2004, Busse et al 2004, Chavarria-Soley et al 2004, Chaves-Villalobos et al 2004, de Céspedes et al 2004, Leal 2004, Ramírez-Monge et al 2004, Salazar-Sánchez et al 2004. These scientific attention can be attributed, at least in part, to the unique combination of a series of operative-type characteristics and of a particularly interesting population structure (Morera et al 2003.…”

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confidence: 99%

Is the Central Valley of Costa Rica a genetic isolate?

Morera-Brenes

Barrantes

2014

RBT

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In the last decade, the Costa Rican Central Valley population (CRCV), has received considerable scientific attention, attributed in part to a particularly interesting population structure. Two different and contradictory explanations have emerged: (1) An European-Amerindian-African admixed population, with some regional genetic heterocigosity and moderate degrees of consanguinity, similar to other Latin-American populations. (2) A genetic isolate, with a recent founder effect of European origin, genetically homogeneous, with a high intermarriage rate, and with a high degree of consanguinity. Extensive civil and religious documentation, since the settlement of the current population, allows wide genealogy and isonymy studies useful in the analysis of both hypotheses. This paper reviews temporal and spatial aspects of endogamy and consanguinity in the CRCV as a key to understand population history. The average inbreeding coefficients (α) between 1860 and 1969 show a general decrease within time. The consanguinity in the CRCV population is not homogeneous, and it is related to a variable geographic pattern. Results indicate that the endogamy frequencies are high but in general it was not correlated with α values. The general tendency shows a consanguinity decrease in time, and from rural to urban communities, repeating the tendencies observed in other countries with the same degree of development, and follows the general Western World tendency. Few human areas or communities in the world can be considered true genetic isolates. As shown, during last century, the CRCV population has had consanguinity values that definitively do not match those of true genetic isolates. A clear knowledge of the Costa Rican population genetic structure is needed to explain the origin of genetic diseases and its implications to the health system. Rev. Biol. Trop. 52(3): 629-644. Epub 2004 Dic 15.

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confidence: 99%

Is the Central Valley of Costa Rica a genetic isolate?

Morera-Brenes

Barrantes

2014

RBT

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“…None of the remaining genetic markers evaluated were associated alone with the risk of MI. There are several explanations for these results: First-could be attributing to the population-specific factors, the low frequency of some of this polymorphism in the CR population (i.e., documented differences in the geographic distribution of carriers of this polymorphism (Herrmann et al 2001) and other polymorphisms (Azofeifa et al 2004, Chaves-Villalobos et al 2004, Morera et al 2001, 2003. Second-previous studies presented conflicting results in the association of some of the analyzed markers as risk factor for MI (i.e., FVL, MTHFR, ACE and FII G20210A (Doggen et al 1998, Ardissino et al 1999, Kang et al 1991, Frosst et al 1995, Cambien et al 1992.…”

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confidence: 99%

Common polymorphisms and cardiovascular factors in patients with myocardial infarction of Costa Rica

Salazar‐Sánchez

Chaves²,

Cartín

et al. 2014

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Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), factor V HR2 (FVHR2), factor II 20210G>A (FII), factor VII IVS7 (FVII IVS7), factor VII Arg353Gln (FVII), factor XIII Val34Leu (FXIII), Methylenetetrahydrofolate reductase C677T (MTHFR), Angiotensin Converting Enzyme (ACE)) and environmental risk factors were analyzed in a MI patients of Costa Rica. This case-control study included 186 MI subjects, 95 of them < 45 years and 201 age and sex matched controls. With the use of PCR method the polymorphisms were detected and through interviews additional information was collected. Hypercholesterolemia and smoking were associated with a significant risk in younger patients. High fibrinogen level was an important risk factor and interaction with smoking was detected. Mainly, the genotype 34LeuLeu of FXIII showed significant protective effect, (OR 0.32, 95%CI 0.13-0.80) while the other polymorphisms showed no significant difference between the cases and the controls. Carriers of FVII (OR 2.75, 95%CI 1.07-7.02) and FXIII (OR 4.20, 95%CI 2.03-8.67) polymorphisms showed interaction with fibrinogen in the statistical analysis. It was concluded that there was an important interaction between the common risk factors and the polymorphisms (FVII; FXIII) in the development of MI. This is one of the first reports in a Latin-American population dealing with these molecular markers and MI.

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“…Los porcentajes obtenidos en nuestros estudios no difieren sustancialmente de otros descritos, aunque nuestra población es el producto de diferentes grupos étnicos (Morera et al 2001, Chaves-Villalobos et al 2004, nuestro resultado muestra que la frecuencia de cada una de las aberraciones cromosómicas recurrentes de impacto pronóstico es similar a las encontradas en las poblaciones sin el alto grado de mestizaje presente en la población costarricense. Aun se debe aclarar que el comportamiento de otras leucemias como la Leucemia Promielocítica Aguda, que por estudios epidemiológicos muestra una frecuencia más elevada en pacientes de origen latino (Douer 2003).…”

Section: Cariotipos Normalesunclassified

Estudios citogenéticos en niños con Leucemia Linfocitica Aguda-B en Costa Rica

Venegas¹,

Rivera²

2014

RBT

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Cytogenetic studies in children with Acute Lymphocitic Leukemia-B in Costa Rica.Chromosome analyses were performed on bone marrow of 177 pediatric patients with Acute Lymphocitic Leukemia at the "Hospital Nacional de Niños". The standard cytogenetic techniques now belongs to the panel of mandatory analyses performed at diagnosis of our acute leukemia patients and represent a major advantage to be effective and independent prognostic factors, essential for therapeutic choices. Cytogenetic results were achieved in 83% of the bone marrow samples: normal karyotypes represented 29% and abnormal karyotypes 71% with the follow distribution: t(9;22) 3%; t(1;19) 5%; t(4;11) 3%, Hyperdiploidy 39%; other chromosomal abnormalities 21%. Systematic cytogenetic analyses are essencial to define morpho-immunologic sub-types of leukemia and to detect new translocations that allows to understand hematopoiesis and leukemogenesis. Rev.

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Polimorfismo del gen de la banda 3 eritrocítica en grupos étnicos de Costa Rica

Cited by 3 publications

References 13 publications

Is the Central Valley of Costa Rica a genetic isolate?

Is the Central Valley of Costa Rica a genetic isolate?

Common polymorphisms and cardiovascular factors in patients with myocardial infarction of Costa Rica

Estudios citogenéticos en niños con Leucemia Linfocitica Aguda-B en Costa Rica

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