Edilene Maria Araujo1,2,3, Luama Dos Santos4,5, Radamés Coutinho4,5, Viviane Assis4, Najara Brandão4, Daniela Almeida4,5, Gildásio Conceição6, Camila Figueredo7, Hellen Fonseca7, Maria de Lourdes Lima8, Denise Lemaire4,5, Domingos Rios4,9. 1. Nucleus of Research and Extension in Nutritional Genomics and Metabolic Dysfunctions (GENUT), Life Sciences Department (DCV), University of the State of Bahia (UNEB), Salvador, Brazil, emaraujo@uneb.br. 2. Posgraduate Program in Biotechnology (PPGBiotec), State University of Feira de Santana (UEFS), Salvador, Brazil, emaraujo@uneb.br. 3. Interactive Process of Organs and Systems (PPGorgsystem), Health Sciences Institute, Federal University of Bahia, Salvador, Brazil, emaraujo@uneb.br. 4. Nucleus of Research and Extension in Nutritional Genomics and Metabolic Dysfunctions (GENUT), Life Sciences Department (DCV), University of the State of Bahia (UNEB), Salvador, Brazil. 5. Interactive Process of Organs and Systems (PPGorgsystem), Health Sciences Institute, Federal University of Bahia, Salvador, Brazil. 6. Association of Parents and Friends of the Exceptional (APAE), Biochemical Analysis Laboratory, Salvador, Brazil. 7. Department of Biointeractive Science, Federal University of Bahia, Salvador, Brazil. 8. Bahia School of Medicine and Public Health (EBMSP), University Salvador (UNIFACS), Salvador, Brazil. 9. Posgraduate Program in Biotechnology (PPGBiotec), State University of Feira de Santana (UEFS), Salvador, Brazil.
Abstract
BACKGROUND/AIMS: Metabolic syndrome (MetS) comprises a cluster of physiological and anthropometric abnormalities. MetS has been linked to lactose intolerance (LI). The aim of this study was to compare the sensitivity and specificity to detect LI using 2 different tests: (1) a genetic test and (2) an oral lactose tolerance test (OLTT). METHODS: Two hundred and fifty-four MetS patients, ≥20 years of age, of both genders, were recruited for this comparative study. Nine single nucleotide polymorphisms (SNPs) were selected for genetic investigation: rs182549and rs4988235(both considered "gold standard"); rs56064699; rs148142676; rs562211644; rs59533246; rs3754689; rs2278544,and rs10552864(as potential novel SNPs). Sensitivity and specificity, as well as positive and negative predictive values, were calculated for each genotype using WINPEPI version 11.65. Differences between positive and negative OLTT groups were considered statistically significant when p ≤ 0.05. RESULTS: Among the selected SNPs, only rs182549(p < 0.001) and rs4988235(p < 0.001) gave similar results compared to an OLTT. The sensitivity of both SNPs to detect LI was 87 and 86%, and specificity was 83 and 82.5%, respectively. CONCLUSION: Genetic tests using rs182549and rs4988235SNPs showed high agreement with OLTT. These genetic tests may be a good option to replace OLTT in MetS patients.
BACKGROUND/AIMS: Metabolic syndrome (MetS) comprises a cluster of physiological and anthropometric abnormalities. MetS has been linked to lactose intolerance (LI). The aim of this study was to compare the sensitivity and specificity to detect LI using 2 different tests: (1) a genetic test and (2) an oral lactose tolerance test (OLTT). METHODS: Two hundred and fifty-four MetS patients, ≥20 years of age, of both genders, were recruited for this comparative study. Nine single nucleotide polymorphisms (SNPs) were selected for genetic investigation: rs182549and rs4988235(both considered "gold standard"); rs56064699; rs148142676; rs562211644; rs59533246; rs3754689; rs2278544,and rs10552864(as potential novel SNPs). Sensitivity and specificity, as well as positive and negative predictive values, were calculated for each genotype using WINPEPI version 11.65. Differences between positive and negative OLTT groups were considered statistically significant when p ≤ 0.05. RESULTS: Among the selected SNPs, only rs182549(p < 0.001) and rs4988235(p < 0.001) gave similar results compared to an OLTT. The sensitivity of both SNPs to detect LI was 87 and 86%, and specificity was 83 and 82.5%, respectively. CONCLUSION: Genetic tests using rs182549and rs4988235SNPs showed high agreement with OLTT. These genetic tests may be a good option to replace OLTT in MetS patients.