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




lactase persistence, lactose intolerance, hip fracture, osteoporosis, genotypes, bone mineral density


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

Author Biographies

Olena Fedota, V. N. Karazin Kharkiv National University Svobody sq., 4, Kharkiv, Ukraine, 61022

Doctor of Biological Sciences, Professor

Department of Obstetrics and Gynecology

Volodymyr Babalian, Kharkiv Medical Academy of Postgraduate Education Amosova str., 58, Kharkiv, Ukraine, 61176

PhD, Associate Professor

Department of Traumatology, Anesthesiology and Military Surgery

Victoria Borozenets, V. N. Karazin Kharkiv National University Svobody sq., 4, Kharkiv, Ukraine, 61022


Department of General and Clinical Pathology

Nina Puzik, Kharkiv National Medical University Nauky ave., 4, Kharkiv, Ukraine, 61022


Department of Medical Biology


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How to Cite

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.



Medical Science