Genetic differences in HLA-DQA1∗ and DQB1∗ allelic distributions between celiac and control children in Santiago, Chile

Pérez-Bravo, F; Araya, Magdalena; Mondragón, Alexandra; Ríos, Gloria; Alarcón, Teresa; Jl, Roessler; Santos, JL

doi:10.1016/s0198-8859(98)00119-0

Cited by 41 publications

(15 citation statements)

References 25 publications

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“…However, our result is in line with the result of the study conducted on HLA-DQ8 by Catassi et al [ 25 ] in 2009 on Turkish people (22%), North American natives (25.3%), Mexicans (28.3%), and Bushmen (an indigenous group of southern Africa) (30%). In addition to that, our results also confirm the results of Rostami-Nejad et al [ 26 ] on Iranian people (25.4%) and the results of Pérez-Brave et al [ 27 ] in Chile (25.8%).…”

Section: Discussionsupporting

confidence: 92%

“…According to the data originating from western countries [ 4 , 13 , 15 , 16 , 28 ], the percentage of patients with celiac disease that are HLA-DQ2 and HLA-DQ8 negative is between 0 and 10%, but there are also other studies reporting higher percentages. In their study conducted in Chile, Pérez-Bravo et al [ 27 ] reported that 62.9% of patients were HLA-DQ2 and HLA-DQ8 negative. The result reported by Piccini et al [ 14 ] and obtained in Italy (22.5%) is in line with our result (24%).…”

Section: Discussionmentioning

confidence: 99%

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The incidence of HLA-DQ2/DQ8 in Turkish children with celiac disease and a comparison of the geographical distribution of HLA-DQ

Baştürk¹,

Artan²,

Yılmaz³

2017

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IntroductionCeliac disease (CD) is an auto-immune enteropathy that occurs in genetically pre-disposed people as a result of the consumption of gluten-containing foods.AimTo identify the incidence of HLA-DQ2 and HLA-DQ8 observed in children with CD.Material and methodsIn this study, we focused on children ranging in age from 2 to 18 years and diagnosed with celiac disease. In our patients diagnosed with CD, in addition to tissue transglutaminase antibodies (anti-tTG), we also evaluated HLA-DQ2 B1 and HLA-DQ8 B1 alleles using the method of polymerase chain reaction (PCR)/sequence-specific oligonucleotide probes (Luminex®). The detection of 0201/0202 for HLA-DQ2 allele and 0302 for HLA-DQ8 allele was accepted as a positive result.ResultsThe mean age of our patients with celiac disease was 7.42 ±3.18 years, and the female/male ratio was 1.5/1. Seventy-six percent of our patients were HLA-DQ2 and/or HLA-DQ8 positive, 67% were HLA-DQ2 positive, and 25% were HLA-DQ8 positive. Nevertheless, 24% of them were HLA-DQ2 and HLA-DQ8 negative. The incidence of HLA-DQ2 in the control group was 18.8% with a significant difference compared to the HLA-DQ2 incidence in the patient group (67%) (p < 0.05). Similarly the HLA-DQ8 incidence in the control group (5.7%) was significantly lower than the incidence in the patient group (25%) (p < 0.05).ConclusionsThe incidence of the patients diagnosed with CD, who are HLA-DQ2 and HLA-DQ8 negative, varies among different populations.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

The incidence of HLA-DQ2/DQ8 in Turkish children with celiac disease and a comparison of the geographical distribution of HLA-DQ

Baştürk¹,

Artan²,

Yılmaz³

2017

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“…To our knowledge, there have been very few genetic association studies for CeD performed in non-European populations, and those that have been published have focused only on the HLA effects based on very small sample size. 30 , 31 , 32 , 33 , 34 , 35 , 36 In this study, we attempted to validate known genetic determinants of CeD and identify potentially novel loci in the north Indian population. We used the Immunochip genotyping platform for this study because it offers the highest coverage of regions associated to immune-related disorders, including those conferring risk to CeD.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of European coeliac disease risk variants in a north Indian population

et al. 2014

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Studies in European populations have contributed to a better understanding of the genetics of complex diseases, for example, in coeliac disease (CeD), studies of over 23 000 European samples have reported association to the HLA locus and another 39 loci. However, these associations have not been evaluated in detail in other ethnicities. We sought to better understand how disease-associated loci that have been mapped in Europeans translate to a disease risk for a population with a different ethnic background. We therefore performed a validation of European risk loci for CeD in 497 cases and 736 controls of north Indian origin. Using a dense-genotyping platform (Immunochip), we confirmed the strong association to the HLA region (rs2854275, P=8.2 × 10−49). Three loci showed suggestive association (rs4948256, P=9.3 × 10−7, rs4758538, P=8.6 × 10−5 and rs17080877, P=2.7 × 10−5). We directly replicated five previously reported European variants (P<0.05; mapping to loci harbouring FASLG/TNFSF18, SCHIP1/IL12A, PFKFB3/PRKCQ, ZMIZ1 and ICOSLG). Using a transferability test, we further confirmed association at PFKFB3/PRKCQ (rs2387397, P=2.8 × 10−4) and PTPRK/THEMIS (rs55743914, P=3.4 × 10−4). The north Indian population has a higher degree of consanguinity than Europeans and we therefore explored the role of recessively acting variants, which replicated the HLA locus (rs9271850, P=3.7 × 10−23) and suggested a role of additional four loci. To our knowledge, this is the first replication study of CeD variants in a non-European population.

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“…En Chile no existen estudios poblacionales de prevalencia que utilicen marcadores serológicos. Estudios realizados en la década 1990-99, en pacientes diagnosticados con la enfermedad digestiva y la lesión intestinal grave, atendidos en los siete hospitales pediátricos de Santiago de la época, determinaron que la enfermedad «clásica» se presenta en 1:1.846 individuos [15][16][17] . También usando EMA como prueba de rastreo se encontró que 5,1% de los familiares estudiados eran celíacos.…”

Section: ¿Cómo Es La Situación En Chile?unclassified

Mejorar el manejo de la enfermedad celíaca: Un desafío urgente

2006

Rev. méd. Chile

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Anti endomysial and anti transglutaminase (EMA/TTG) antibodies measurements in large population (Rev Méd Chile 2006; 134: 361-64el equipo de salud incorpore los nuevos conceptos de en quienes buscar a enfermedad, se masifique el acceso a las nuevas metodologías de detección precoz y se mejore el etiquetado de productos elaborados de manera explicitar el contenido de gluten, única manera que los celía-cos pueden mantener una vida laboral y social normal. Revisemos estos conceptos y analicemos lo que hemos avanzado en esta dirección. ¿QUÉ ES LA ENFERMEDAD CELÍACA?Es una enfermedad crónica producida por la interacción entre genes (que dan la susceptibilidad) y el ambiente (que aporta las prolaminas del gluten, incluyendo las gliadinas del trigo, las secalinas del centeno y las hordeínas de la cebada). Se clasifica según las manifestaciones gastrointestinales presentes en: 1) presentación E n la última década, los avances en el conocimiento de la inmunología y genética de la enfermedad celíaca revelan una realidad compleja, que ha llevado a revisar el concepto de qué es la enfermedad y cuál es su impacto en la salud del ser humano. La situación surgió al masificarse el uso de técnicas que buscan anticuerpos antiendomisio (EMA) y anti transglutaminasa (TTG) tisular circulantes, los que demostraron que la enfermedad era mucho más frecuente que lo que se estimaba y que existen presentaciones clínicas incompletas o atípicas. Es urgente que en Chile mejore la capacidad de diagnóstico y el tratamiento de la enfermedad, para lo cual se necesita que

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Genetic differences in HLA-DQA1∗ and DQB1∗ allelic distributions between celiac and control children in Santiago, Chile

Cited by 41 publications

References 25 publications

The incidence of HLA-DQ2/DQ8 in Turkish children with celiac disease and a comparison of the geographical distribution of HLA-DQ

The incidence of HLA-DQ2/DQ8 in Turkish children with celiac disease and a comparison of the geographical distribution of HLA-DQ

Evaluation of European coeliac disease risk variants in a north Indian population

Mejorar el manejo de la enfermedad celíaca: Un desafío urgente

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