Frequency of HLA‐DQ, susceptibility genotypes for celiac disease, in Brazilian newborns
Background The frequency of HLA‐DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and has not been previously determined among the highly interbred Brazilian population. The aim of this study was to investigate the frequency of t...
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| Published in: | Molecular genetics & genomic medicine Vol. 6; no. 5; pp. 779 - 784 |
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| Main Authors: | , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
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John Wiley & Sons, Inc
01-09-2018
John Wiley and Sons Inc |
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| Abstract | Background
The frequency of HLA‐DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and has not been previously determined among the highly interbred Brazilian population. The aim of this study was to investigate the frequency of these genotypes among Brazilian newborns (NB).
Methods
We typed DQA1*05 ‐ DQB1*02 (DQ2.5) and DQA1*03 ‐ DQB1*03:02 (DQ8) alleles in 329 NB using qPCR technique. Subsequently we confirmed our results by PCR‐SSP using a reference kit which further identified DQ2.2 (DQA1*02:01 ‐ DQB1*02).
Results
Among the 329 NB, using qPCR technique: 5 (1.52%) carried both DQ2.5 and DQ8 variants; 58 (17.63%) carried only DQ2.5 (DQA1*05 and DQB1*02) and 47 (14.29%) carried only the DQ8 (DQA1*03 and DQB1*03:02) variant. The use of the PCR‐SSP method yielded further information; among the 329 samples: 34 (10.34%) tested positive for DQ2.2 and among the 47 previously DQ8 positives samples, we found 10 (3.04%) that also tested positives for DQ2.2.
Conclusion
43.7% of the analyzed individual tested positive for at least one of the CD predisposing HLA‐DQ genotypes in our group of Brazilian NB. The highest frequency was found for DQ2.5 positive subjects (17.6%) followed by DQ8 (11.3%); DQ2.2 (10.3%); DQ8 and DQ2.2 (3.0%); DQ2.5 and DQ8 (1.5%). We found no positive sample for DQ2.5 associated with DQ2.2.
This study analyses the frequency of celiac disease predisposing variants in a highly interbreed population (the Brazilian population). We assessed this information by studying a representative sample of the country and using a faster and more specific approach developed by our research team and previously validated. |
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| AbstractList | BackgroundThe frequency of HLA‐DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and has not been previously determined among the highly interbred Brazilian population. The aim of this study was to investigate the frequency of these genotypes among Brazilian newborns (NB).MethodsWe typed DQA1*05 ‐ DQB1*02 (DQ2.5) and DQA1*03 ‐ DQB1*03:02 (DQ8) alleles in 329 NB using qPCR technique. Subsequently we confirmed our results by PCR‐SSP using a reference kit which further identified DQ2.2 (DQA1*02:01 ‐ DQB1*02).ResultsAmong the 329 NB, using qPCR technique: 5 (1.52%) carried both DQ2.5 and DQ8 variants; 58 (17.63%) carried only DQ2.5 (DQA1*05 and DQB1*02) and 47 (14.29%) carried only the DQ8 (DQA1*03 and DQB1*03:02) variant. The use of the PCR‐SSP method yielded further information; among the 329 samples: 34 (10.34%) tested positive for DQ2.2 and among the 47 previously DQ8 positives samples, we found 10 (3.04%) that also tested positives for DQ2.2.Conclusion43.7% of the analyzed individual tested positive for at least one of the CD predisposing HLA‐DQ genotypes in our group of Brazilian NB. The highest frequency was found for DQ2.5 positive subjects (17.6%) followed by DQ8 (11.3%); DQ2.2 (10.3%); DQ8 and DQ2.2 (3.0%); DQ2.5 and DQ8 (1.5%). We found no positive sample for DQ2.5 associated with DQ2.2. Background The frequency of HLA‐DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and has not been previously determined among the highly interbred Brazilian population. The aim of this study was to investigate the frequency of these genotypes among Brazilian newborns (NB). Methods We typed DQA1*05 ‐ DQB1*02 (DQ2.5) and DQA1*03 ‐ DQB1*03:02 (DQ8) alleles in 329 NB using qPCR technique. Subsequently we confirmed our results by PCR‐SSP using a reference kit which further identified DQ2.2 (DQA1*02:01 ‐ DQB1*02). Results Among the 329 NB, using qPCR technique: 5 (1.52%) carried both DQ2.5 and DQ8 variants; 58 (17.63%) carried only DQ2.5 (DQA1*05 and DQB1*02) and 47 (14.29%) carried only the DQ8 (DQA1*03 and DQB1*03:02) variant. The use of the PCR‐SSP method yielded further information; among the 329 samples: 34 (10.34%) tested positive for DQ2.2 and among the 47 previously DQ8 positives samples, we found 10 (3.04%) that also tested positives for DQ2.2. Conclusion 43.7% of the analyzed individual tested positive for at least one of the CD predisposing HLA‐DQ genotypes in our group of Brazilian NB. The highest frequency was found for DQ2.5 positive subjects (17.6%) followed by DQ8 (11.3%); DQ2.2 (10.3%); DQ8 and DQ2.2 (3.0%); DQ2.5 and DQ8 (1.5%). We found no positive sample for DQ2.5 associated with DQ2.2. This study analyses the frequency of celiac disease predisposing variants in a highly interbreed population (the Brazilian population). We assessed this information by studying a representative sample of the country and using a faster and more specific approach developed by our research team and previously validated. The frequency of HLA-DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and has not been previously determined among the highly interbred Brazilian population. The aim of this study was to investigate the frequency of these genotypes among Brazilian newborns (NB). We typed DQA1*05 - DQB1*02 (DQ2.5) and DQA1*03 - DQB1*03:02 (DQ8) alleles in 329 NB using qPCR technique. Subsequently we confirmed our results by PCR-SSP using a reference kit which further identified DQ2.2 (DQA1*02:01 - DQB1*02). Among the 329 NB, using qPCR technique: 5 (1.52%) carried both DQ2.5 and DQ8 variants; 58 (17.63%) carried only DQ2.5 (DQA1*05 and DQB1*02) and 47 (14.29%) carried only the DQ8 (DQA1*03 and DQB1*03:02) variant. The use of the PCR-SSP method yielded further information; among the 329 samples: 34 (10.34%) tested positive for DQ2.2 and among the 47 previously DQ8 positives samples, we found 10 (3.04%) that also tested positives for DQ2.2. 43.7% of the analyzed individual tested positive for at least one of the CD predisposing HLA-DQ genotypes in our group of Brazilian NB. The highest frequency was found for DQ2.5 positive subjects (17.6%) followed by DQ8 (11.3%); DQ2.2 (10.3%); DQ8 and DQ2.2 (3.0%); DQ2.5 and DQ8 (1.5%). We found no positive sample for DQ2.5 associated with DQ2.2. |
| Author | Almeida, Lucas M. Costa, Karina N. Picanço, Marilucia R. A. Nóbrega, Yanna K. M. Pratesi, Claudia B. Gandolfi, Lenora Selleski, Nicole Pratesi, Riccardo Almeida, Fernanda C. |
| AuthorAffiliation | 2 Research Center for Celiac Disease School of Medicine University of Brasilia Brasilia DF Brazil 4 Department of Pediatrics School of Medicine University of Brasilia Brasilia DF Brazil 1 Graduate Program in Medical Sciences School of Medicine University of Brasilia Brasilia DF Brazil 3 Graduate Program in Health Sciences School of Health Sciences University of Brasilia Brasilia DF Brazil 5 Department of Pharmaceutical Sciences School of Health Sciences University of Brasilia Brasilia DF Brazil |
| AuthorAffiliation_xml | – name: 1 Graduate Program in Medical Sciences School of Medicine University of Brasilia Brasilia DF Brazil – name: 2 Research Center for Celiac Disease School of Medicine University of Brasilia Brasilia DF Brazil – name: 5 Department of Pharmaceutical Sciences School of Health Sciences University of Brasilia Brasilia DF Brazil – name: 4 Department of Pediatrics School of Medicine University of Brasilia Brasilia DF Brazil – name: 3 Graduate Program in Health Sciences School of Health Sciences University of Brasilia Brasilia DF Brazil |
| Author_xml | – sequence: 1 givenname: Fernanda C. surname: Almeida fullname: Almeida, Fernanda C. organization: University of Brasilia – sequence: 2 givenname: Lenora surname: Gandolfi fullname: Gandolfi, Lenora organization: University of Brasilia – sequence: 3 givenname: Karina N. surname: Costa fullname: Costa, Karina N. organization: University of Brasilia – sequence: 4 givenname: Marilucia R. A. surname: Picanço fullname: Picanço, Marilucia R. A. organization: University of Brasilia – sequence: 5 givenname: Lucas M. surname: Almeida fullname: Almeida, Lucas M. organization: University of Brasilia – sequence: 6 givenname: Yanna K. M. surname: Nóbrega fullname: Nóbrega, Yanna K. M. organization: University of Brasilia – sequence: 7 givenname: Riccardo surname: Pratesi fullname: Pratesi, Riccardo organization: University of Brasilia – sequence: 8 givenname: Claudia B. surname: Pratesi fullname: Pratesi, Claudia B. organization: University of Brasilia – sequence: 9 givenname: Nicole orcidid: 0000-0001-6790-829X surname: Selleski fullname: Selleski, Nicole email: selleskinicole@gmail.com organization: University of Brasilia |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30014583$$D View this record in MEDLINE/PubMed |
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| Keywords | celiac disease HLA-DQ8 newborn polymerase chain reaction HLA-DQ2 frequency |
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L. |
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The frequency of HLA‐DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and... The frequency of HLA-DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and has not been... BackgroundThe frequency of HLA‐DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and has... BACKGROUNDThe frequency of HLA-DQ2 and DQ8 predisposing genotypes for celiac disease (CD) has shown significant variation among different world regions and has... |
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| SubjectTerms | Alleles Autoimmune diseases Brazil - epidemiology Celiac disease Celiac Disease - epidemiology Celiac Disease - genetics DQA1 protein Female frequency Gene Frequency Genetic Predisposition to Disease Genotypes Histocompatibility antigen HLA HLA-DQ Antigens - genetics HLA‐DQ2 HLA‐DQ8 Humans Infant, Newborn Male Neonates newborn Original polymerase chain reaction Real-Time Polymerase Chain Reaction |
| Title | Frequency of HLA‐DQ, susceptibility genotypes for celiac disease, in Brazilian newborns |
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