The Lactase -13910C>T Polymorphism (rs4988235) in Macedonian Individuals with Abdominal Symptoms

INTRODUCTION: Primary hypolactasia is one of the main causes of lactose intolerance. Genetic tests are used in primary lactose intolerance. It is associated with two polymorphisms: C/T-13910 and G/A-22018 located upstream of the LCT gene which encodes for lactase-phlorizin hydrolase. AIM: The aim of this study was to determine the presence of C/T-13910 polymorphism in individuals with abdominal symptoms from North Macedonia. METHOD: Realtime PCR (FLASH technique) for the C/T-13910 polymorphism was performed. A total of 161 patients from N. Macedonia (82 females, 79 males; from 1-67 years, mean age 11.2±14.9) were tested for the most common mutation C/T-13910 in the promoter of the LCT gene. Two groups were formed according to ethnicity: 70 subjects Macedonian and 91 Albanian subjects. RESULTS: CC-13910 genotype was found in 64.6 % of total subjects, with higher prevalence in Macedonian then in Albanian subjects (74.29% vs 57.14%). CONCLUSION: The results obtained show that N. Macedonia belongs to the group of European countries with low lactose tolerance.