Lactase persistence may have an independent origin in Tibetan populations from Tibet, China

Journal of Human Genetics

Volumn 57, Issue 6, 2012, Pages 394-397

  Peng, Min Sheng ^a,c   He, Jun Dong ^a,b,c   Zhu, Chun Ling ^a,c   Wu, Shi Fang ^a,c   Jin, Jie Qiong ^a,c   Zhang, Ya Ping ^a,c,d  

^a KUNMING INSTITUTE OF ZOOLOGY   (China)

^b UNIVERSITY OF SCIENCE AND TECHNOLOGY OF CHINA   (China)

^c KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases   (China)

^d YUNNAN UNIVERSITY   (China)

Author keywords

culture; genetic diversity; lactase persistence; milk; SNP; Tibet; Tibetan

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 4ALPHA; LACTASE;

CHINA; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; NUCLEOTIDE SEQUENCE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BINDING SITES; ENHANCER ELEMENTS, GENETIC; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HUMANS; LACTASE; NUCLEOTIDE MOTIFS; POLYMORPHISM, SINGLE NUCLEOTIDE; TIBET;

EID: 84862878012     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.41     Document Type: Review

References (22)

1. Diamond, J. & Bellwood, P. Farmers and their languages: the first expansions. Science 300, 597-603 (2003). (Pubitemid 36520577)
2. Patin, E. & Quintana-Murci, L. Demeter's legacy: rapid changes to our genome imposed by diet. Trends Ecol. Evol. 23, 56-59 (2008). (Pubitemid 351191692)
3. Laland, K. N., Odling-Smee, J. & Myles, S. How culture shaped the human genome: bringing genetics and the human sciences together. Nat. Rev. Genet. 11, 137-148 (2010).
4. Wang, Y., Harvey, C. B., Pratt, W. S., Sams, V. R., Sarner, M., Rossi, M. et al. The lactase persistence/non-persistence polymorphism is controlled by a cis-acting element. Hum. Mol. Genet. 4, 657-662 (1995).
5. 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. 124, 579-591 (2009).
6. 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. 30, 233-237 (2002).
7. Heyer, E., Brazier, L., Frédéric, L., Hegay, T., Austerlitz, F., Quintana-Murci, L. et al. Lactase persistence in Central Asia: phenotype, genotype, and evolution. Hum. Biol. 83, 379-392 (2011).
8. Gallego Romero, I., Basu Mallick, C., Liebert, A., Crivellaro, F., Chaubey, G., Itan, Y. et al. Herders of Indian and European cattle share their predominant allele for lactase persistence. Mol. Biol. Evol. 29, 249-260 (2012).
9. Ingram, C. J., Elamin, M. F., Mulcare, C. A., Weale, M. E., Tarekegn, A., Raga, T. O. et al. A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence? Hum. Genet. 120, 779-788 (2007). (Pubitemid 46128833)
10. Tishkoff, S. A., Reed, F. A., Ranciaro, A., Voight, B. F., Babbitt, C. C., Silverman, J. S. et al. Convergent adaptation of human lactase persistence in Africa and Europe. Nat. Genet. 39, 31-40 (2007). (Pubitemid 46026499)
11. Bersaglieri, T., Sabeti, P. C., Patterson, N., Vanderploeg, T., Schaffner, S. F., Drake, J. A. et al. Genetic signatures of strong recent positive selection at the lactase gene. Am. J. Hum. Genet. 74, 1111-1120 (2004). (Pubitemid 38669310)
12. Itan, Y., Powell, A., Beaumont, M. A., Burger, J. & Thomas, M. G. The origins of lactase persistence in Europe. PLoS Comput. Biol. 5, e1000491 (2009).
13. Dong, S. K., Long, R. J. & Kang, M. Y. Milking and milk processing: traditional technologies in the yak farming system of the Qinghai-Tibetan Plateau, China. Int. J. Dairy. Techol 56, 86-93 (2003). (Pubitemid 36578373)
14. Jiang, Z. & Liu, X.-c. Initial study on the lactose malabsorption and lactose intolerance of Tibetan middle school students. J. Chongqing Med. Univ 20, 272-274 (1995).
15. Simoons, F. J. Primary adult lactose intolerance and the milking habit: a problem in biologic and cultural interrelations II. A culture historical hypothesis. Am. J. Dig. Dis 15, 695-710 (1970).
16. 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. 45, 168-174 (2010).
17. Sun, H. M., Qiao, Y. D., Chen, F., Xu, L. D., Bai, J. & Fu, S. B. The lactase gene-13910T allele can not predict the lactase-persistence phenotype in north China. Asia Pac. J. Clin. Nutr. 16, 598-601 (2007). (Pubitemid 350291890)
18. Zhao, M., Kong, Q. P., Wang, H. W., Peng, M. S., Xie, X. D., Wang, W. Z. et al. Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau. Proc. Natl Acad. Sci. USA 106, 21230-21235 (2009).
19. Gayden, T., Cadenas, A. M., Regueiro, M., Singh, N. B., Zhivotovsky, L. A., Underhill, P. A. et al. The Himalayas as a directional barrier to gene flow. Am. J. Hum. Genet. 80, 884-894 (2007). (Pubitemid 46668457)
20. Peng, M. S., Palanichamy, M. G., Yao, Y. G., Mitra, B., Cheng, Y. T., Zhao, M. et al. Inland post-glacial dispersal in East Asia revealed by mitochondrial haplogroup M9a'b. BMC Biol. 9, 2 (2011).
21. 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. 14, 3945-3953 (2005). (Pubitemid 43020095)
22. Rodriguez, S., Gaunt, T. R. & Day, I. N. Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am. J. Epidemiol. 169, 505-514 (2009).