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Background and aim: the essential genetic marker related with celiac disease (CD) is the HLA-DQ2 molecule encoded by the DQA1*0501 and DQB1*0201 genes. The aim of this study is to evaluate effect of these alleles on the clinical, serological and histological features of Turkish children with celiac disease. Material and methods: we divided 36 celiac patients to 4 groups according to their HLA-DQ2 genotype based on the presence or absence of DQA1*0501 and DQB1*0201 alleles. Group 1: 4 patients had no HLA-DQ2A1*0501 and DQ2B1*0201 alleles, Group 2: 12 patients had at least one of these alleles with heterozygous status, Group 3: 12 patients had both alleles with heterozygous status, Group 4: 8 patients had both alleles with homozygous status. We compared groups according to the clinical, serological, histological, and biochemical features. Results: there was no statistical significance among the groups for age, body mass index (BMI), weight for height, and onset of symptoms. However, both in groups 3 and 4 compared with groups 1 and 2, minor differences were observed for BMI and anti-gliadin antibody (AGA) without statistical significance. According to the anti-endomysial antibody (EMA), Marsh scores, clinical presentations, hematological and biochemical values, there was no statistical significance among groups without constipation that observed higher rate in the 4th group without statistically significance. Hypothyroidism was detected in one patient (25%) in the lowest genetic load group (Group 1) with statistically significance (p < 0.046). Conclusion: in this study, small differences found among groups were not elucidated the impact of HLADQ2 A1*0501 and DQ2B1*0201 alleles on the clinical, serological and laboratory manifestations of celiac patients. Further studies are needed to assess the effect of reported HLA alleles and other genetic polymorphisms on CD outcomes in children. Antecedentes y objetivo: el marcador genético esencial relacionado con la enfermedad celíaca (CD) es la molécula HLA-DQ2 codificada por los genes DQA1*0501 y DQB1*0201. El objetivo de este estudio es evaluar el efecto de estos alelos en las características clínicas, serológicas e histológicas de los niños turcos que tienen la enfermedad celíaca. Material y métodos: nosotros hemos dividido los 36 pacientes celíacos en 4 grupos de acuerdo con su genotipo HLA-DQ2 basado en la presencia o la ausencia de los alelos DQA1*0501 y DQB1*0201. Grupo 1: 4 pacientes que no tenían los alelos HLA-DQ2A1*0501 y DQ2B1*0201; Grupo 2: 12 pacientes que tenían por lo menos uno de estos alelos con un estado heterocigoto; Grupo 3: 12 pacientes que tenián ambos alelos con un estado heterocigoto; Grupo 4: 8 pacientes que tenían ambos alelos con un estado heterocigoto. Nosotros hemos comparado los grupos de acuerdo con las características clínicas, serológicas, histológicas y bioquímicas. Resultados: no había significación estadística entre los grupos por edad, índice de masa corporal, (IMC), peso por altura y aparición de síntomas. Sin embargo, en los grupos 3 y 4 comparados con los grupos 1 y 2 se observaron unas diferencias menores en IMC y anticuerpos antigliadina (AGA), sin una significación estadística. De acuerdo con los antiendomisios (EMA), la puntuación Marsh, las presentaciones clínicas y los valores hematológicos y bioquímicos, no había una significación estadística entre los grupos sin estreñimiento respecto a los valores más altos observados en el grupo 4 sin significación estadística. Se detectó hipertiroidismo en un paciente (25%) del grupo de carga genética más baja (grupo 1) con significación estadística (p < 0,046). El resultado: en este estudio, las pequeñas diferencias que se encontraton entre los grupos no dilucidaron el impacto de los alelos HLA-DQ2 A1*0501 y DQ2B1*0201 en las manifectaciones clínicas, serológicas y de laboratorio de los pacientes celíacos. Se necesitan nuevos estudios para evaluar el efecto de los alelos HLA y otros polimorfismos genéticos en los resultados sobre la enfermedad celíaca en los niños.

Background and aim: the essential genetic marker related with celiac disease (CD) is the HLA-DQ2 molecule encoded by the DQA1*0501 and DQB1*0201 genes. The aim of this study is to evaluate effect of these alleles on the clinical, serological and histological features of Turkish children with celiac disease. Material and methods: we divided 36 celiac patients to 4 groups according to their HLA-DQ2 genotype based on the presence or absence of DQA1*0501 and DQB1*0201 alleles. Group 1: 4 patients had no HLA-DQ2A1*0501 and DQ2B1*0201 alleles, Group 2: 12 patients had at least one of these alleles with heterozygous status, Group 3: 12 patients had both alleles with heterozygous status, Group 4: 8 patients had both alleles with homozygous status. We compared groups according to the clinical, serological, histological, and biochemical features. Results: there was no statistical significance among the groups for age, body mass index (BMI), weight for height, and onset of symptoms. However, both in groups 3 and 4 compared with groups 1 and 2, minor differences were observed for BMI and anti-gliadin antibody (AGA) without statistical significance. According to the anti-endomysial antibody (EMA), Marsh scores, clinical presentations, hematological and biochemical values, there was no statistical significance among groups without constipation that observed higher rate in the 4th group without statistically significance. Hypothyroidism was detected in one patient (25%) in the lowest genetic load group (Group 1) with statistically significance (p < 0.046). Conclusion: in this study, small differences found among groups were not elucidated the impact of HLADQ2 A1*0501 and DQ2B1*0201 alleles on the clinical, serological and laboratory manifestations of celiac patients. Further studies are needed to assess the effect of reported HLA alleles and other genetic polymorphisms on CD outcomes in children.