Revista de Gastroenterología de México Revista de Gastroenterología de México
Rev Gastroenterol Mex 2018;83:79-85 - Vol. 83 Num.2 DOI: 10.1016/j.rgmxen.2018.03.003
Original article
Genetics, environment, and asthma associated with celiac disease in the extended family of an affected child
Genética, ambiente y asma asociados a enfermedad celiaca en la familia extendida de un niño afectado
R. Sigala-Robles, S.V. Aguayo-Patrón, A.M. Calderón de la Barca,
Coordinación de Nutrición, Centro de Investigación en Alimentación y Desarrollo, Hermosillo, Sonora, Mexico
Received 17 January 2017, Accepted 02 May 2017
Abstract
Introduction

Celiac disease (CD) is an autoimmune enteropathy associated with gluten ingestion. In extended families of celiac patients that live in close proximity of one another, shared genetic and environmental factors can predispose them to CD.

Aim

The aim of this study was to provide evidence about the genetic and environmental factors involved in the development of CD in the extended family of a pediatric patient.

Methods

The medical history, environmental conditions, and participant weight, height, and peripheral blood samples were evaluated. The HLA-DQ2/DQ8 haplotypes were genotyped through qPCR testing and the IgA anti-gliadin and anti-transglutaminase antibodies were quantified using the ELISA test.

Results

Twelve close-living maternal relatives of the index case participated in the study. Eight of them presented with the HLA-DQ2 haplotype, inherited from the grandfather, and 7/12 and 9/12 were positive for IgA anti-gliadin and IgA anti-transglutaminase antibodies, respectively. The main intestinal symptoms stated by the participants were abdominal bloating, excess flatulence, constipation, and gastroesophageal reflux. The most frequent extra-intestinal symptoms were fatigue, stress, and anxiety. In addition, 6/13 participants had bronchial asthma.

Conclusion

The extended family living in close proximity of one another shared a genetic predisposition, environmental conditions, and asthma, which could have predisposed them to celiac disease.

Resumen
Introducción

La enfermedad celiaca (EC) es una enteropatía autoinmune asociada a la ingestión de gluten. En las familias extendidas de pacientes celiacos en estrecha convivencia, los factores genéticos y ambientales compartidos pueden predisponer a EC.

Objetivo

Proporcionar evidencia sobre factores genéticos y ambientales implicados en el desarrollo de la EC en una familia extendida de un paciente pediátrico.

Métodos

Se evaluaron historial clínico, condiciones ambientales, peso y talla de los participantes y se les tomó una muestra de sangre periférica. Se genotipificaron los haplotipos HLA-DQ2/DQ8 mediante qPCR y se cuantificaron por ELISA los anticuerpos IgA antigliadinas y antitransglutaminasa.

Resultados

Participaron 12 familiares maternos del caso índice, que tenían estrecha convivencia vecinal. Ocho presentaron HLA-DQ2 heredado del abuelo, 7/12 y 9/12 fueron positivos para los anticuerpos IgA antigliadinas e IgA antitransglutaminasa, respectivamente. Los principales síntomas intestinales referidos por los participantes fueron distensión abdominal, exceso de gases, estreñimiento y reflujo gastroesofágico. Los síntomas extraintestinales más frecuentes fueron fatiga, estrés y ansiedad. Además, 6/13 participantes tuvieron asma bronquial.

Conclusión

La familia extendida convive estrechamente, comparte la predisposición genética, condiciones ambientales y el asma, que podrían haberlos predispuesto a la EC.

Keywords
Celiac disease, HLA-DQ2/DQ8, Extended family, Asthma, Environmental factors
Palabras clave
Enfermedad celiaca, HLA-DQ2/DQ8, Familia extendida, Asma, Factores ambientales
Rev Gastroenterol Mex 2018;83:79-85 - Vol. 83 Num.2 DOI: 10.1016/j.rgmxen.2018.03.003
Cookies Policy
x
To improve our services and products, we use cookies (own or third parties authorized) to show advertising related to client preferences through the analyses of navigation customer behavior. Continuing navigation will be considered as acceptance of this use. You can change the settings or obtain more information by clicking here.