Study of the lactose intolerance genetic aspects among the population and patients with hip fracture in eastern Ukraine


Olena Fedota, Volodymyr Babalian, Victoria Borozenets, Nina Puzik

About 75 % of the world’s population loses ability to lactose tolerance in adulthood. The study of tolerance to lactose (LT) or lactase persistence (LP) in Ukrainians is necessary to identify the association of this trait with multifactorial pathologies, the formation of risk groups and food culture development.

The aim of study was to evaluate the genetic aspects of lactose deficiency in population and its relation with human pathologies on the example of a hip fracture.

Material and methods: lactose intolerance phenotype was found in 9.7 % of Ukrainians and lactose persistence amounted to 69.4 %. In group of patients with fractures of the proximal femur frequencies were: 13910T – 0.34,13910C – 0.66, 22018A- 0.35, 22018G – 0.65. Distribution of genotypes was 0 % :67.6 % : 32.4 % for TT:CT:CC and 2.9 % : 64.7 % : 32.4 %, for AA:GA:GG. Deviation from the Hardy-Weinberg equilibrium was not observed.

Results: when analyzed genotypes for both SNPs, we found the ratio – CTAA:CTGA:CCGA:CCGG being 2.9 % : 61.7 % : 2.9 % : 32.5 %. The linkage disequilibrium was estimated, D’ (r2) for SNPs analyzed was 0.209 (0.554). A half of patients had osteoporosis or osteopenia (n=50.0 %), but these pathologies were not observed in patients with the TTAA genotype. The values BMD of CTGA patients were 4049.8±38.7 and 4109.6±30.0 for CCGG patients.

Conclusion: all patients with osteoporosis had a genotype CTGA, average value of BMD was 3795.6±43.8. CTGA-patients had following gastrointestinal tract disorders: gastritis (33.3 %), peptic ulcer (9.5 %), duodenal ulcer (9.5 %), stomach cancer (9.5 %). Heterozygous genotypes significantly increase five times the risk of gastrointestinal pathology in patients with fractures of the proximal femur

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How to cite paper:
Fedota, O., Babalian, V., Borozenets, V., & Puzik, N. (2020). Study of the lactose intolerance genetic aspects among the population and patients with hip fracture in eastern Ukraine. ScienceRise: Medical Science, (4 (37), 29–33. https://doi.org/10.15587/2519-4798.2020.209143