Estimadores de mezcla amerindia basados en métodos serológicos y moleculares

Pulgar-Alarcón, Iván; Fuentes-Guajardo, Macarena; Llop, Elena; Rothhammer, Francisco

doi:10.4067/s0034-98872015000400004

Cited by 2 publications

(1 citation statement)

References 9 publications

(14 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is important to consider that MBL2 allele frequencies differ greatly between populations [ 48 , 49 ] being 42–46% for MBL2*B in Guarani Amerindians from south Brazil [ 31 ] and Chiriguano and Mapuche Indians from Argentina [ 50 ], and 11% for Euro-Brazilians from South Brazil [ 31 ], as those investigated in the present study. Thus, the high frequency of MBL2*B found in Chilean patients (48%) is probably due to high Amerindian admixture (52%, based on ancestry-informative markers [ 51 ]. The frequency of this allele was much lower in the present study (13% in patients and 15.6% in controls), in accordance with the very low Amerindian admixture (5%) of the investigated population [ 52 , 53 ].…”

Section: Discussionmentioning

confidence: 99%

Genetically Determined MBL Deficiency Is Associated with Protection against Chronic Cardiomyopathy in Chagas Disease

et al. 2016

View full text Add to dashboard Cite

Chagas disease (CD) is caused by Trypanosoma cruzi, whose sugar moieties are recognized by mannan binding lectin (MBL), a soluble pattern-recognition molecule that activates the lectin pathway of complement. MBL levels and protein activity are affected by polymorphisms in the MBL2 gene. We sequenced the MBL2 promoter and exon 1 in 196 chronic CD patients and 202 controls. The MBL2*C allele, which causes MBL deficiency, was associated with protection against CD (P = 0.007, OR = 0.32). Compared with controls, genotypes with this allele were completely absent in patients with the cardiac form of the disease (P = 0.003). Furthermore, cardiac patients with genotypes causing MBL deficiency presented less heart damage (P = 0.003, OR = 0.23), compared with cardiac patients having the XA haplotype causing low MBL levels, but fully capable of activating complement (P = 0.005, OR = 7.07). Among the patients, those with alleles causing MBL deficiency presented lower levels of cytokines and chemokines possibly implicated in symptom development (IL9, p = 0.013; PDGFB, p = 0.036 and RANTES, p = 0.031). These findings suggest a protective effect of genetically determined MBL deficiency against the development and progression of chronic CD cardiomyopathy.

show abstract

Section: Discussionmentioning

confidence: 99%

Genetically Determined MBL Deficiency Is Associated with Protection against Chronic Cardiomyopathy in Chagas Disease

et al. 2016

View full text Add to dashboard Cite

show abstract

Genetic Variants of Cytochrome <b><i>CYP2D6</i></b> in Two Mixed Chilean Populations

Acuña

Pinto²,

Olivares³

et al. 2016

Hum Hered

View full text Add to dashboard Cite

Objectives: It is known that the interindividual and interethnic variability of the genetic polymorphisms of CYP2D6 plays an important role in the presentation of adverse drug reactions and concerning lack of therapeutic effects in humans. However, there are few data available from mixed populations of Latin America, including the Chilean. The aim of this study was therefore to estimate the frequencies of CYP2D6 variants in two samples of hospitals from the northern (Hospital San José, HSJ) and eastern (Clínica Las Condes, CLC) parts of Santiago, Chile, with different degrees of Amerindian admixture (HSJ: 34.5%; CLC: 15.9%). Methods: We used polymerase chain reaction followed by restriction endonuclease digestion (PCR-RFLP) to genotype 7 CYP2D6 alleles in 250 healthy unrelated individuals of Chilean Mestizo background. The detection of allele CYP2D6*5 and the duplication of this gene was performed by long-PCR. Results: The degrees of Amerindian admixture are reflected in the observed frequencies of the CYP2D6*1 (HSJ: 58.26%; CLC: 41.06%), CYP2D6*2 (HSJ: 28.10%; CLC: 40.65%), and CYP2D6*4 (HSJ: 8.26%; CLC: 12.60%) alleles; the frequencies of CYP2D6*1 (p = 0.0002) and CYP2D6*2 (p = 0.0036) are significantly different between the samples. Four individuals (CLC: 0.41%; HSJ: 1.24%) could not be assigned to a genotype. We identified 3.25% of the genotypes which predict a poor metabolizer phenotype in CLC and 1.65% in HSJ. Conclusion: Our data indicate ethnic group-dependent genetic differences in the vulnerability to treatment with the large variety of drugs metabolized by the enzyme CYP2D6.

show abstract

Estimadores de mezcla amerindia basados en métodos serológicos y moleculares

Abstract: (Rev Med Chile 2015; 143: 439-443)

Cited by 2 publications

References 9 publications

Genetically Determined MBL Deficiency Is Associated with Protection against Chronic Cardiomyopathy in Chagas Disease

Genetically Determined MBL Deficiency Is Associated with Protection against Chronic Cardiomyopathy in Chagas Disease

Genetic Variants of Cytochrome <b><i>CYP2D6</i></b> in Two Mixed Chilean Populations

Contact Info

Product

Resources

About