PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES, INCLUDING HLA-DQ2.2 VARIANT, IN BRAZILIAN CHILDREN
ABSTRACT BACKGROUND: Celiac disease is an autoimmune enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Almost all celiac patients carry immune recognition genes coding for HLA-DQ2.5 and DQ8 heterodimers. Over the last few years, great importance has been give...
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| Format: | Article |
| Language: | English |
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Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE)
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| Series: | Arquivos de Gastroenterologia |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032018000100082&lng=en&tlng=en |
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| author | Nicole SELLESKI Lucas Malta ALMEIDA Fernanda Coutinho de ALMEIDA Claudia Beatriz PRATESI Yanna Karla de Medeiros NÓBREGA Lenora GANDOLFI |
| author_facet | Nicole SELLESKI Lucas Malta ALMEIDA Fernanda Coutinho de ALMEIDA Claudia Beatriz PRATESI Yanna Karla de Medeiros NÓBREGA Lenora GANDOLFI |
| author_sort | Nicole SELLESKI |
| collection | DOAJ |
| description | ABSTRACT BACKGROUND: Celiac disease is an autoimmune enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Almost all celiac patients carry immune recognition genes coding for HLA-DQ2.5 and DQ8 heterodimers. Over the last few years, great importance has been given to HLA-DQ2.2 as probable predisposing variant, although controversies still exist regarding its relevance. OBJECTIVE: The aim of our study was to determine the possible existence of an association between HLA-DQ2.2 and celiac disease in Brazilian children by analyzing the prevalence of the predisposing variants for celiac disease in a representative group of children of a population in which this determination is still missing. METHODS: HLA-DQ typing was performed in samples from a group of celiac (n=100) and non-celiac children (n=110). All samples were tested for the presence of the following variants: DQA1*05-DQB1*02 (DQ2.5), DQA1*03-DQB1*03:02 (DQ8) and DQA1*02:01-DQB1*02:02 (DQ2.2). Fisher`s exact test was used for statistical analysis. RESULTS: In the group of 100 celiac children, 78 (78%) were positive for DQ2, 13 (13 %) were DQ2/DQ8 and 6 (6%) were DQ8 positives. The HLA-DQ pattern in the 110 non-celiac children was as follows: positive for DQ2 in 33 (29.9%) samples, in 2 (1.8 %) was positive for DQ2/DQ8 and in 15 (13.6%) was positive for DQ8. We found significant differences between the distribution of some but not all of the analyzed alleles when comparing celiac and non-celiac children. CONCLUSION: The genotyping of celiac disease HLA-DQ predisposing alleles showed similarities with HLA-DQ patterns found in both European and non-European populations, which may be a reflection of the miscegenation, which gave origin to the current Brazilian population. No significant association was found between DQ2.2 variant and celiac disease in the studied population. |
| first_indexed | 2024-12-22T22:56:36Z |
| format | Article |
| id | doaj.art-0657ea17e6814c258ba203ffbfdaeb8d |
| institution | Directory Open Access Journal |
| issn | 1678-4219 |
| language | English |
| last_indexed | 2024-12-22T22:56:36Z |
| publisher | Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE) |
| record_format | Article |
| series | Arquivos de Gastroenterologia |
| spelling | doaj.art-0657ea17e6814c258ba203ffbfdaeb8d2022-12-21T18:09:48ZengInstituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE)Arquivos de Gastroenterologia1678-4219551828510.1590/s0004-2803.201800000-16S0004-28032018000100082PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES, INCLUDING HLA-DQ2.2 VARIANT, IN BRAZILIAN CHILDRENNicole SELLESKILucas Malta ALMEIDAFernanda Coutinho de ALMEIDAClaudia Beatriz PRATESIYanna Karla de Medeiros NÓBREGALenora GANDOLFIABSTRACT BACKGROUND: Celiac disease is an autoimmune enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Almost all celiac patients carry immune recognition genes coding for HLA-DQ2.5 and DQ8 heterodimers. Over the last few years, great importance has been given to HLA-DQ2.2 as probable predisposing variant, although controversies still exist regarding its relevance. OBJECTIVE: The aim of our study was to determine the possible existence of an association between HLA-DQ2.2 and celiac disease in Brazilian children by analyzing the prevalence of the predisposing variants for celiac disease in a representative group of children of a population in which this determination is still missing. METHODS: HLA-DQ typing was performed in samples from a group of celiac (n=100) and non-celiac children (n=110). All samples were tested for the presence of the following variants: DQA1*05-DQB1*02 (DQ2.5), DQA1*03-DQB1*03:02 (DQ8) and DQA1*02:01-DQB1*02:02 (DQ2.2). Fisher`s exact test was used for statistical analysis. RESULTS: In the group of 100 celiac children, 78 (78%) were positive for DQ2, 13 (13 %) were DQ2/DQ8 and 6 (6%) were DQ8 positives. The HLA-DQ pattern in the 110 non-celiac children was as follows: positive for DQ2 in 33 (29.9%) samples, in 2 (1.8 %) was positive for DQ2/DQ8 and in 15 (13.6%) was positive for DQ8. We found significant differences between the distribution of some but not all of the analyzed alleles when comparing celiac and non-celiac children. CONCLUSION: The genotyping of celiac disease HLA-DQ predisposing alleles showed similarities with HLA-DQ patterns found in both European and non-European populations, which may be a reflection of the miscegenation, which gave origin to the current Brazilian population. No significant association was found between DQ2.2 variant and celiac disease in the studied population.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032018000100082&lng=en&tlng=enCeliac disease, geneticsPrevalenceGenotyping techniquesHLA-DQ antigens |
| spellingShingle | Nicole SELLESKI Lucas Malta ALMEIDA Fernanda Coutinho de ALMEIDA Claudia Beatriz PRATESI Yanna Karla de Medeiros NÓBREGA Lenora GANDOLFI PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES, INCLUDING HLA-DQ2.2 VARIANT, IN BRAZILIAN CHILDREN Arquivos de Gastroenterologia Celiac disease, genetics Prevalence Genotyping techniques HLA-DQ antigens |
| title | PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES, INCLUDING HLA-DQ2.2 VARIANT, IN BRAZILIAN CHILDREN |
| title_full | PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES, INCLUDING HLA-DQ2.2 VARIANT, IN BRAZILIAN CHILDREN |
| title_fullStr | PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES, INCLUDING HLA-DQ2.2 VARIANT, IN BRAZILIAN CHILDREN |
| title_full_unstemmed | PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES, INCLUDING HLA-DQ2.2 VARIANT, IN BRAZILIAN CHILDREN |
| title_short | PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES, INCLUDING HLA-DQ2.2 VARIANT, IN BRAZILIAN CHILDREN |
| title_sort | prevalence of celiac disease predisposing genotypes including hla dq2 2 variant in brazilian children |
| topic | Celiac disease, genetics Prevalence Genotyping techniques HLA-DQ antigens |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032018000100082&lng=en&tlng=en |
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