EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL
ABSTRACT Background: Lactose tolerant test (LTT) is the most broadly used diagnostic test for lactose intolerance in Brazil, is an indirect, minimally invasive and a low-cost test that is widely available in primary care and useful in clinical practice. The C/T-13910 polymorphism in lactase persist...
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| Format: | Article |
| Language: | English |
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Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE)
2024-03-01
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| Series: | Arquivos de Gastroenterologia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032024000100201&lng=en&tlng=en |
| _version_ | 1797277112858574848 |
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| author | Marcia Wehba Esteves CAVICHIO Caio Robledo D’Angioli Costa QUAIO Wagner Antonio da Rosa BARATELA Patrícia Marinho Costa de OLIVEIRA Soraia TAHAN |
| author_facet | Marcia Wehba Esteves CAVICHIO Caio Robledo D’Angioli Costa QUAIO Wagner Antonio da Rosa BARATELA Patrícia Marinho Costa de OLIVEIRA Soraia TAHAN |
| author_sort | Marcia Wehba Esteves CAVICHIO |
| collection | DOAJ |
| description | ABSTRACT Background: Lactose tolerant test (LTT) is the most broadly used diagnostic test for lactose intolerance in Brazil, is an indirect, minimally invasive and a low-cost test that is widely available in primary care and useful in clinical practice. The C/T-13910 polymorphism in lactase persistence has been well characterized in Caucasian populations, but there are no studies evaluating the concordance between C/T-13910 polymorphism genotyping results and LTT results in Brazil, where the population is highly mixed. Objective: We aimed to evaluate agreement between presence of C/T-13910 polymorphism genotyping and malabsorption in LTT results. Methods: This is a retrospective analysis of a Brazilian population whose data were collected from a single laboratory database present in several Brazilian states. Results of individuals who underwent both genetic testing for lactose intolerance (C/T-13910 polymorphism genotyping) and an LTT from April 2016 until February 2019 were analysed to evaluate agreement between tests. Groups were classified according to age (<10-year-old (yo), 10-17 yo, ≥18 yo groups) and state of residence (São Paulo or Rio Grande do Sul). Results: Among the 404 patients evaluated, there was agreement between the genotyping and LTT results in 325 (80.4%) patients and discordance in 79 (19.6%) patients (k=0.42 -moderate agreement). Regarding the genotype, 47 patients with genotype C/C (lactase nonpersistence) had normal LTT results, and 32 with genotype C/T or T/T (indicating lactase persistence) had abnormal LTT results. Neither age nor state of residence (Rio Grande do Sul or São Paulo) affected the agreement between test results. Conclusion: Considering the moderate agreement between C/T-13910 polymorphism genotyping and LTT results (κ=0.42) in the Brazilian population, we hypothesize that an analysis of other polymorphisms could be a strategy to improve the agreement between genotyping and established tests and suggest that additional studies should focus on exploring this approach. |
| first_indexed | 2024-03-07T15:43:00Z |
| format | Article |
| id | doaj.art-d8abf510a7ba443190312a09637b6024 |
| institution | Directory Open Access Journal |
| issn | 1678-4219 |
| language | English |
| last_indexed | 2024-03-07T15:43:00Z |
| publishDate | 2024-03-01 |
| publisher | Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE) |
| record_format | Article |
| series | Arquivos de Gastroenterologia |
| spelling | doaj.art-d8abf510a7ba443190312a09637b60242024-03-05T07:41:12ZengInstituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE)Arquivos de Gastroenterologia1678-42192024-03-016110.1590/s0004-2803.24612023-104EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZILMarcia Wehba Esteves CAVICHIOhttps://orcid.org/0000-0001-6569-9463Caio Robledo D’Angioli Costa QUAIOhttps://orcid.org/0000-0003-2873-2820Wagner Antonio da Rosa BARATELAhttps://orcid.org/0009-0007-0711-2098Patrícia Marinho Costa de OLIVEIRAhttps://orcid.org/0000-0002-4444-7758Soraia TAHANhttps://orcid.org/0000-0002-4568-3314ABSTRACT Background: Lactose tolerant test (LTT) is the most broadly used diagnostic test for lactose intolerance in Brazil, is an indirect, minimally invasive and a low-cost test that is widely available in primary care and useful in clinical practice. The C/T-13910 polymorphism in lactase persistence has been well characterized in Caucasian populations, but there are no studies evaluating the concordance between C/T-13910 polymorphism genotyping results and LTT results in Brazil, where the population is highly mixed. Objective: We aimed to evaluate agreement between presence of C/T-13910 polymorphism genotyping and malabsorption in LTT results. Methods: This is a retrospective analysis of a Brazilian population whose data were collected from a single laboratory database present in several Brazilian states. Results of individuals who underwent both genetic testing for lactose intolerance (C/T-13910 polymorphism genotyping) and an LTT from April 2016 until February 2019 were analysed to evaluate agreement between tests. Groups were classified according to age (<10-year-old (yo), 10-17 yo, ≥18 yo groups) and state of residence (São Paulo or Rio Grande do Sul). Results: Among the 404 patients evaluated, there was agreement between the genotyping and LTT results in 325 (80.4%) patients and discordance in 79 (19.6%) patients (k=0.42 -moderate agreement). Regarding the genotype, 47 patients with genotype C/C (lactase nonpersistence) had normal LTT results, and 32 with genotype C/T or T/T (indicating lactase persistence) had abnormal LTT results. Neither age nor state of residence (Rio Grande do Sul or São Paulo) affected the agreement between test results. Conclusion: Considering the moderate agreement between C/T-13910 polymorphism genotyping and LTT results (κ=0.42) in the Brazilian population, we hypothesize that an analysis of other polymorphisms could be a strategy to improve the agreement between genotyping and established tests and suggest that additional studies should focus on exploring this approach.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032024000100201&lng=en&tlng=enFood intolerancelactosegenetic testinglactose tolerance test |
| spellingShingle | Marcia Wehba Esteves CAVICHIO Caio Robledo D’Angioli Costa QUAIO Wagner Antonio da Rosa BARATELA Patrícia Marinho Costa de OLIVEIRA Soraia TAHAN EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL Arquivos de Gastroenterologia Food intolerance lactose genetic testing lactose tolerance test |
| title | EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL |
| title_full | EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL |
| title_fullStr | EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL |
| title_full_unstemmed | EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL |
| title_short | EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL |
| title_sort | evaluation of agreement between c t 13910 polymorphism genotyping results and lactose tolerance test results a retrospective population based study in brazil |
| topic | Food intolerance lactose genetic testing lactose tolerance test |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032024000100201&lng=en&tlng=en |
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