<b><i>Background/Aims:</i></b> 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). <b><i>Methods:</i></b> 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: <i>rs182549</i>and<i> rs4988235</i>(both considered “gold standard”); <i>rs56064699; rs148142676; rs562211644; rs59533246; rs3754689; rs2278544</i>,<i></i>and <i>rs10552864</i>(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 <i>p</i> ≤ 0.05. <b><i>Results:</i></b> Among the selected SNPs, only <i>rs182549</i>(<i>p</i> < 0.001) and<i> rs4988235</i>(<i>p</i> < 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. <b><i>Conclusion:</i></b> Genetic tests using <i>rs182549</i>and <i>rs4988235</i>SNPs showed high agreement with OLTT. These genetic tests may be a good option to replace OLTT in MetS patients.
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