Clinical evaluation, biochemistry and genetic polymorphism analysis for the diagnosis of lactose intolerance in a population from northeastern Brazil
OBJECTIVE: This work aimed to evaluate and correlate symptoms, biochemical blood test results and single nucleotide polymorphisms for lactose intolerance diagnosis. METHOD: A cross-sectional study was conducted in Fortaleza, Ceará, Brazil, with a total of 119 patients, 54 of whom were lactose intol...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier España
2016-02-01
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| Series: | Clinics |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322016000200082&lng=en&tlng=en |
| _version_ | 1818112602079756288 |
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| author | Paulo Roberto Lins Ponte Pedro Henrique Quintela Soares de Medeiros Alexandre Havt Joselany Afio Caetano David A.C. Cid Mara de Moura Gondim Prata Alberto Melo Soares Richard L. Guerrant Josyf Mychaleckyj Aldo Ângelo Moreira Lima |
| author_facet | Paulo Roberto Lins Ponte Pedro Henrique Quintela Soares de Medeiros Alexandre Havt Joselany Afio Caetano David A.C. Cid Mara de Moura Gondim Prata Alberto Melo Soares Richard L. Guerrant Josyf Mychaleckyj Aldo Ângelo Moreira Lima |
| author_sort | Paulo Roberto Lins Ponte |
| collection | DOAJ |
| description | OBJECTIVE: This work aimed to evaluate and correlate symptoms, biochemical blood test results and single nucleotide polymorphisms for lactose intolerance diagnosis. METHOD: A cross-sectional study was conducted in Fortaleza, Ceará, Brazil, with a total of 119 patients, 54 of whom were lactose intolerant. Clinical evaluation and biochemical blood tests were conducted after lactose ingestion and blood samples were collected for genotyping evaluation. In particular, the single nucleotide polymorphisms C>T-13910 and G>A-22018 were analyzed by restriction fragment length polymorphism/polymerase chain reaction and validated by DNA sequencing. RESULTS: Lactose-intolerant patients presented with more symptoms of flatulence (81.4%), bloating (68.5%), borborygmus (59.3%) and diarrhea (46.3%) compared with non-lactose-intolerant patients (p<0.05). We observed a significant association between the presence of the alleles T-13910 and A-22018 and the lactose-tolerant phenotype (p<0.05). After evaluation of the biochemical blood test results for lactose, we found that the most effective cutoff for glucose levels obtained for lactose malabsorbers was <15 mg/dL, presenting an area under the receiver operating characteristic curve greater than 80.3%, with satisfactory values for sensitivity and specificity. CONCLUSIONS: These data corroborate the association of these single nucleotide polymorphisms (C>T-13910 and G>A-22018) with lactose tolerance in this population and suggest clinical management for patients with lactose intolerance that considers single nucleotide polymorphism detection and a change in the biochemical blood test cutoff from <25 mg/dL to <15 mg/dL. |
| first_indexed | 2024-12-11T03:21:32Z |
| format | Article |
| id | doaj.art-51fb39044bec4acf82c721bbc9ef27a6 |
| institution | Directory Open Access Journal |
| issn | 1980-5322 |
| language | English |
| last_indexed | 2024-12-11T03:21:32Z |
| publishDate | 2016-02-01 |
| publisher | Elsevier España |
| record_format | Article |
| series | Clinics |
| spelling | doaj.art-51fb39044bec4acf82c721bbc9ef27a62022-12-22T01:22:37ZengElsevier EspañaClinics1980-53222016-02-01712828910.6061/clinics/2016(02)06S1807-59322016000200082Clinical evaluation, biochemistry and genetic polymorphism analysis for the diagnosis of lactose intolerance in a population from northeastern BrazilPaulo Roberto Lins PontePedro Henrique Quintela Soares de MedeirosAlexandre HavtJoselany Afio CaetanoDavid A.C. CidMara de Moura Gondim PrataAlberto Melo SoaresRichard L. GuerrantJosyf MychaleckyjAldo Ângelo Moreira LimaOBJECTIVE: This work aimed to evaluate and correlate symptoms, biochemical blood test results and single nucleotide polymorphisms for lactose intolerance diagnosis. METHOD: A cross-sectional study was conducted in Fortaleza, Ceará, Brazil, with a total of 119 patients, 54 of whom were lactose intolerant. Clinical evaluation and biochemical blood tests were conducted after lactose ingestion and blood samples were collected for genotyping evaluation. In particular, the single nucleotide polymorphisms C>T-13910 and G>A-22018 were analyzed by restriction fragment length polymorphism/polymerase chain reaction and validated by DNA sequencing. RESULTS: Lactose-intolerant patients presented with more symptoms of flatulence (81.4%), bloating (68.5%), borborygmus (59.3%) and diarrhea (46.3%) compared with non-lactose-intolerant patients (p<0.05). We observed a significant association between the presence of the alleles T-13910 and A-22018 and the lactose-tolerant phenotype (p<0.05). After evaluation of the biochemical blood test results for lactose, we found that the most effective cutoff for glucose levels obtained for lactose malabsorbers was <15 mg/dL, presenting an area under the receiver operating characteristic curve greater than 80.3%, with satisfactory values for sensitivity and specificity. CONCLUSIONS: These data corroborate the association of these single nucleotide polymorphisms (C>T-13910 and G>A-22018) with lactose tolerance in this population and suggest clinical management for patients with lactose intolerance that considers single nucleotide polymorphism detection and a change in the biochemical blood test cutoff from <25 mg/dL to <15 mg/dL.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322016000200082&lng=en&tlng=enLactose IntoleranceSingle Nucleotide PolymorphismsClinical ManagementDiagnosis of Lactose IntoleranceLactose-Tolerant Phenotype |
| spellingShingle | Paulo Roberto Lins Ponte Pedro Henrique Quintela Soares de Medeiros Alexandre Havt Joselany Afio Caetano David A.C. Cid Mara de Moura Gondim Prata Alberto Melo Soares Richard L. Guerrant Josyf Mychaleckyj Aldo Ângelo Moreira Lima Clinical evaluation, biochemistry and genetic polymorphism analysis for the diagnosis of lactose intolerance in a population from northeastern Brazil Clinics Lactose Intolerance Single Nucleotide Polymorphisms Clinical Management Diagnosis of Lactose Intolerance Lactose-Tolerant Phenotype |
| title | Clinical evaluation, biochemistry and genetic polymorphism analysis for the diagnosis of lactose intolerance in a population from northeastern Brazil |
| title_full | Clinical evaluation, biochemistry and genetic polymorphism analysis for the diagnosis of lactose intolerance in a population from northeastern Brazil |
| title_fullStr | Clinical evaluation, biochemistry and genetic polymorphism analysis for the diagnosis of lactose intolerance in a population from northeastern Brazil |
| title_full_unstemmed | Clinical evaluation, biochemistry and genetic polymorphism analysis for the diagnosis of lactose intolerance in a population from northeastern Brazil |
| title_short | Clinical evaluation, biochemistry and genetic polymorphism analysis for the diagnosis of lactose intolerance in a population from northeastern Brazil |
| title_sort | clinical evaluation biochemistry and genetic polymorphism analysis for the diagnosis of lactose intolerance in a population from northeastern brazil |
| topic | Lactose Intolerance Single Nucleotide Polymorphisms Clinical Management Diagnosis of Lactose Intolerance Lactose-Tolerant Phenotype |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322016000200082&lng=en&tlng=en |
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