Study of the lactose intolerance genetic aspects among the population and patients with hip fracture in eastern Ukraine
Keywords: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
- Kettunen, J., Silander, K., Saarela, O., Amin, N., Muller, M., Timpson, N. et. al. (2009). European lactase persistence genotype shows evidence of association with increase in body mass index. Human Molecular Genetics, 19 (6), 1129–1136. doi: http://doi.org/10.1093/hmg/ddp561
- Bonjour, J.-P. (2013). Nutritional disturbance in acid–base balance and osteoporosis: a hypothesis that disregards the essential homeostatic role of the kidney. British Journal of Nutrition, 110 (7), 1168–1177. doi: http://doi.org/10.1017/s0007114513000962
- Enattah, N. S., Sahi, T., Savilahti, E., Terwilliger, J. D., Peltonen, L., Järvelä, I. (2002). Identification of a variant associated with adult-type hypolactasia. Nature Genetics, 30 (2), 233–237. doi: http://doi.org/10.1038/ng826
- Ji, J., Sundquist, J., Sundquist, K. (2014). Lactose intolerance and risk of lung, breast and ovarian cancers: aetiological clues from a population-based study in Sweden. British Journal of Cancer, 112 (1), 149–152. doi: http://doi.org/10.1038/bjc.2014.544
- Somekawa, Y., Chiguchi, M., Ishibashi, T., Aso, T. (2001). Soy intake related to menopausal symptoms, serum lipids, and bone mineral density in postmenopausal Japanese women. Obstetrics & Gynecology, 97 (1), 109–115. doi: http://doi.org/10.1016/s0029-7844(00)01080-2
- Wagh, K., Bhatia, A., Alexe, G., Reddy, A., Ravikumar, V., Seiler, M. et. al. (2012). Lactase Persistence and Lipid Pathway Selection in the Maasai. PLoS ONE, 7 (9), e44751. doi: http://doi.org/10.1371/journal.pone.0044751
- Albuquerque, D., Nóbrega, C., Manco, L. (2013). The lactase persistence -13910C>T polymorphism shows indication of association with abdominal obesity among Portuguese children. Acta Paediatrica, 102 (4), e153–e157. doi: http://doi.org/10.1111/apa.12134
- Guo, J., Astrup, A., Lovegrove, J. A., Gijsbers, L., Givens, D. I., Soedamah-Muthu, S. S. (2017). Milk and dairy consumption and risk of cardiovascular diseases and all-cause mortality: dose–response meta-analysis of prospective cohort studies. European Journal of Epidemiology, 32 (4), 269–287. doi: http://doi.org/10.1007/s10654-017-0243-1
- Fenton, T. R., Tough, S. C., Lyon, A. W., Eliasziw, M., Hanley, D. A. (2011). Causal assessment of dietary acid load and bone disease: a systematic review & meta-analysis applying Hill's epidemiologic criteria for causality. Nutrition Journal, 10(1). doi: http://doi.org/10.1186/1475-2891-10-41
- Shams-White, M. M., Chung, M., Fu, Z., Insogna, K. L., Karlsen, M. C., LeBoff, M. S. et. al. (2018). Animal versus plant protein and adult bone health: A systematic review and meta-analysis from the National Osteoporosis Foundation. PLOS ONE, 13 (2), e0192459. doi: http://doi.org/10.1371/journal.pone.0192459
- Kalchenko, A., Babalyan, V., Hurbanova, T., Maznyakov, S. (2016). Surgical treatment of proximal femur osteoporotic fractures (literature review). Orthopaedics, Traumatology and Prosthetics, 2, 111–119. doi: http://doi.org/10.15674/0030-598720162111-119
- Rocha-Braz, M. G. M., Ferraz-de-Souza, B. (2016). Genetics of osteoporosis: searching for candidate genes for bone fragility. Archives of Endocrinology and Metabolism, 60 (4), 391–401. doi: http://doi.org/10.1590/2359-3997000000178
- Kuchay, R. A. H., Anwar, M., Thapa, B. R., Mahmood, A., Mahmood, S. (2012). Correlation of G/A -22018 single-nucleotide polymorphism with lactase activity and its usefulness in improving the diagnosis of adult-type hypolactasia among North Indian children. Genes & Nutrition, 8 (1), 145–151. doi: http://doi.org/10.1007/s12263-012-0305-7
- Coelho, M., Luiselli, D., Bertorelle, G., Lopes, A. I., Seixas, S., Destro-Bisol, G., Rocha, J. (2005). Microsatellite variation and evolution of human lactase persistence. Human Genetics, 117 (4), 329–339. doi: http://doi.org/10.1007/s00439-005-1322-z
- Hodges, J., Cao, S., Cladis, D., Weaver, C. (2019). Lactose Intolerance and Bone Health: The Challenge of Ensuring Adequate Calcium Intake. Nutrients, 11 (4), 718. doi: http://doi.org/10.3390/nu11040718
- Fedota, O. M., Babalian, V. O., Borozenets, V. V., Mazniakov, S. M., Puzik, N. G. (2019). Lactose intolerance and its association with the exogamy degree among the population of eastern Ukraine. Faktori Eksperimental’noi Evolucii Organizmiv, 24, 249–253. doi: http://doi.org/10.7124/feeo.v24.1110
- Iacone, R., Scanzano, C., D'Isanto, A., Vitalone, A., Frangipane, I., D'Angeli, M. et. al. (2018). Prediction of Renal Acid Load in Adult Patients on Parenteral Nutrition. Pharmaceutics, 10 (2). doi: http://doi.org/10.3390/pharmaceutics10020043
- Baranov, V. S. (2009). Geneticpassport-the basis of individual and predictive medicine. Saint-Petersburg, 528.
- Fedota, O. M., Babalian, V. O., Mitiohlo, L. V., Mazniakov, S. M., Valilshchikov, M. V., Tyzhnenko, T. V., Ruban S. Yu. (2017). Bone mineral density in evaluation the productive traits and reproductive health of dairy cows. Journal for veterinary medicine, biotechnology and biosafety, 3 (4), 16–22. Available at: http://nbuv.gov.ua/UJRN/jvmbb_2017_3_4_6
- Larsson, S. C., Orsini, N., Wolk, A. (2006). Milk, milk products and lactose intake and ovarian cancer risk: A meta-analysis of epidemiological studies. International Journal of Cancer, 118 (2), 431–441. doi: http://doi.org/10.1002/ijc.21305
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