Frequency of lactase persistence genotype in a healthy Polish population
Tóm tắt
The majority of mammals are unable to digest lactose due to post-weaning deactivation of the LCT gene, which is responsible for encoding the enzyme lactase (i.e., adult-type hypolactasia). A substitution of C with T at position −13910 bp upstream of the LCT gene has been linked to the lactase persistence phenotype in European populations. We investigated the frequency of LCT-13910C>T polymorphism in 223 blood donors from central Poland. All samples were genotyped by polymerase chain reaction and direct sequencing. The LCT-13910 T allele (lactase persistence) was present in 51% of individuals sampled from the Polish population. We did not find any non-European variants associated with lactase persistence (LCT-13907C>G, LCT-13913T>C, LCT-13915T>G), or any new polymorphisms within the sequenced region. Allele frequencies obtained are in agreement with results from other countries and confirm the unique pattern of distribution of the LCT-13910C>T genotype in Europe.
Tài liệu tham khảo
Lehtimäki T., Hemminki J., Rontu R., Mikkila V., Räsänen L., Laaksonen M., et al., The effects of adult-type hypolactasia on body height growth and dietary calcium intake from childhood into young adulthood: a 21-year follow-up study—the Cardiovascular Risk in Young Finns Study, Pediatrics, 2006, 118, 1553–1559
Troelsen J.T., Adult-type hypolactasia and regulation of lactase expression, Biochim. Biophys. Acta, 2005, 1723, 19–32
Laaksonen M.M., Mikkilä V., Räsänen L., Rontu R., Lehtimäki T.J., Viikari J.S., et al., Genetic lactase non-persistence, consumption of milk products and intakes of milk nutrients in Finns from childhood to young adulthood, Br. J. Nutr., 2009, 102, 8–17
Laaksonen M.M., Impivaara O., Sievänen H., Viikari J.S., Lehtimäki T.J., Lamberg-Allardt C.J., et al., Associations of genetic lactase non-persistence and sex with bone loss in young adulthood, Bone, 2009, 44, 1003–1009
Wang Y., Harvey C.B., Hollox E.J., Phillips A.D., Poulter M., Clay P., et al., The genetically programmed down-regulation of lactase in children, Gastroenterology, 1998, 114, 1230–1236
Enattah N.S., Jensen T.G., Nielsen M., Lewinski R., Kuokkanen M., Rasinpera H., et al., Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture, Am. J. Hum. Genet., 2008, 82, 57–72
Holden C., Mace R., Phylogenetic analysis of the evolution of lactose digestion in adults, Hum. Biol., 1997, 69, 605–628
Enattah N.S., Trudeau A., Pimenoff V., Maiuri L., Auricchio S., Greco L., et al., Evidence of stillongoing convergence evolution of the lactase persistence T-13910 alleles in humans, Am. J. Hum. Genet., 2007, 81, 615–625
Swallow D.M., Genetics of lactase persistence and lactose intolerance, Annu. Rev. Genet., 2003, 37, 197–219
Enattah N.S., Sahi T., Savilahti E., Terwilliger J.D., Peltonen L., Järvelä I., Identification of a variant associated with adult-type hypolactasia, Nat. Genet., 2002, 30, 233–237
Lehtimaki T., Hutri-Kahonen N., Kahonen M., Hemminki J., Mikkila V., Laaksonen M., et al., Adult-type hypolactasia is not a predisposing factor for the early functional and structural changes of atherosclerosis: the Cardiovascular Risk in Young Finns Study, Clin. Sci. (Lond.), 2008, 115, 265–271
Lewinsky R.H., Jensen T.G., Moller J., Stensballe A., Olsen J., Troelsen J.T., T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro, Hum. Mol. Genet., 2005, 14, 3945–3953
Troelsen J.T., Olsen J., Moller J., Sjostrom H., An upstream polymorphism associated with lactase persistence has increased enhancer activity, Gastroenterology, 2003, 125, 1686–1694
Rasinpera H., Savilahti E., Enattah N.S., Kuokkanen M., Tötterman N., Lindahl H., et al., A genetic test which can be used to diagnose adult-type hypolactasia in children, Gut, 2004, 53, 1571–1576
Ingram C.J., Mulcare C.A., Itan Y., Thomas M.G., Swallow D.M., Lactose digestion and the evolutionary genetics of lactase persistence, Hum. Genet., 2009, 124, 579–591
Xu L., Sun H., Zhang X., Wang J., Sun D., Chen F., et al., The -22018A allele matches the lactase persistence phenotype in northern Chinese populations, Scand. J. Gastroenterol., 2010, 45, 168–174
Imtiaz F., Savilahti E., Sarnesto A., Trabzuni D., Al-Kahtani K., Kagevi I., et al., The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population, J. Med. Genet., 2007, 44, e89
Kettunen J., Silander K., Saarela O., Amin N., Muller M., Timpson N., et al., European lactase persistence genotype shows evidence of association with increase in body mass index, Hum. Mol. Genet., 2010, 19, 1129–1136
Burger J., Kirchner M., Bramanti B., Haak W., Thomas M.G., Absence of the lactase-persistenceassociated allele in early Neolithic Europeans, Proc. Natl. Acad. Sci. USA, 2007, 104, 3736–3741
Ksiazyk J., Flatz G., Socha J., Flatz S., Bak E., Wystepowanie objawów nietolerancji laktozy w świetle badań populacyjnych w Polsce (Incidence of lactose intolerance discerned in population studies in Poland), Wiad. Lek., 1985, 38, 183–187, (in Polish)
Tamura K., Dudley J., Nei M., Kumar S., MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) software version 4.0, Mol. Biol. Evol., 2007, 24, 1596–1599
Almon R., Patterson E., Nilsson T.K., Engfeldt P., Sjöström M., Body fat and dairy product intake in lactase persistent and non-persistent children and adolescents, Food Nutr. Res., 2010, 54, 5141
Itan Y., Jones B.L., Ingram C.J., Swallow D.M., Thomas M.G., A worldwide correlation of lactase persistence phenotype and genotypes, BMC Evol. Biol., 2010, 10, 36
Moskalik B., Wielicka A., Age influence on dairy products consumption habits, Rocz. AR Pozn., 2005, 4, 59–65
Mulcare C.A., Weale M.E., Jones A.L., Connell B., Zeitlyn D., Tarekegn A., et al., The T allele of a single-nucleotide polymorphism 13.9 kb upstream of the lactase gene (LCT) (C-13.9kbT) does not predict or cause the lactase-persistence phenotype in Africans, Am. J. Hum. Genet., 2004, 74, 1102–1110
Lember M., Torniainen S., Kull M., Kallikorm R., Saadla P., Rajasalu T., et al., Lactase nonpersistence and milk consumption in Estonia, World J. Gastroenterol., 2006, 12, 7329–7331
Khabarova Y.A., Torniainen S.T., Nurmi H.A., Jävelä I.E., Isokoski M.K., Mattila K.J., Prevalence of lactase persistent/non-persistent genotypes and milk consumption in a young population in northwest Russia, World J. Gastroenterol., 2009, 15, 1849–1853
Nagy D., Bogácsi-Szabó E., Várkonyi A., Csányi B., Czibula A., Bede O., et al., Prevalence of adult-type hypolactasia as diagnosed with genetic and lactose hydrogen breath tests in Hungarians, Eur. J. Clin. Nutr., 2009, 63, 909–912