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

American Journal of Human Genetics

Volumn 74, Issue 6, 2004, Pages 1102-1110

  Mulcare, Charlotte A ^a   Weale, Michael E ^a   Jones, Abigail L ^a   Connell, Bruce ^b   Zeitlyn, David ^c   Tarekegn, Ayele ^a   Swallow, Dallas M ^a   Bradman, Neil ^a   Thomas, Mark G ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b YORK UNIVERSITY   (Canada)

^c UNIVERSITY OF KENT   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LACTOSE;

ALLELE; ARTICLE; CAMEROON; DISEASE ASSOCIATION; EVIDENCE BASED MEDICINE; FINLAND; GENE; GENETIC TRAIT; HUMAN; LACTASE GENE; LACTOSE INTOLERANCE; MAJOR CLINICAL STUDY; MALE; MEDICAL LITERATURE; MIGRATION; MILK; PHENOTYPE; POPULATION GENETICS; PREDICTION; PRIORITY JOURNAL; PUBLICATION; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH AFRICA; Y CHROMOSOME;

EID: 2442673931     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/421050     Document Type: Article

References (47)

1. Arnold J, Diop M, Kodjovi M, Rozier J (1980) L'intolerance au lactose chez l'adulte au Senegal (Lactose intolerance in adults in Senegal). C R Seances Soc Biol Fil 174:983-992 (In French)
2. Arola H, Koivula T, Jokela H, Jauhiainen M, Keyrilainen O, Ahola T, Uusitalo A, Isokoski M (1988) Comparison of indirect diagnostic methods for hypolactasia. Scand J Gastroenterol 23:351-357
3. Bayoumi RAL, Flatz SD, Kuhau W, Flatz G (1982) Beja and Nilotes: nomadic pastoralist groups with opposite distributions of the adult lactase phenotypes. Am J Phys Anthropol 58:173-178
4. Bayoumi RAL, Saha N, Salih AS, Bakkar AE, Flatz G (1981) Distribution of the lactase phenotypes in the population of the Democratic Republic of the Sudan. Hum Genet 57:279-281
5. Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN (2004) Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet 74:1111-1120 (in this issue)
6. Blench R (1999) Why are there so many pastoral groups in eastern Africa? In: Azarya V, Breedveld A, De Bruijn M, Van Dijk H (eds) Pastoralists under pressure? Fulbe societies confronting change in west Africa. Brill Press, Boston
7. Boll W, Wagner P, Mantei N (1991) Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase. Am J Hum Genet 48:889-902
8. Buning C, Jurga J, Fiedler T, Kupferling S, Worm M, Weltrich R, Genschel J, Lochs H, Schmidt H, Ockenga J (2003) Genetic background of lactose intolerance and implications for diagnosis. Gastroenterology Suppl 124:A144
9. Cook G, Asp N, Dahlqvist A (1973) Lactose absorption kinetics in Zambian African subjects. Br J Nutr 30:519-527
10. Cook G, Kajubi S (1966) Tribal incidence of lactase deficiency in Uganda. Lancet 1:725-729
11. Cook G, Lakin A, Whitehead R (1967) Absorption of lactose and its digestion products in the normal and malnourished Ugandan. Gut 8:622-627
12. Cox J, Elliott F (1974) Primary adult lactose intolerance in the Kivu lake area: Rwanda and the Bushi. Am J Dig Dis 19:714-724
13. Cruciani F, Santolamazza P, Shen P, Macaulay V, Moral P, Olckers A, Modiano D, Holmes S, Destro-Bisol G, Coia V, Wallace DC, Oefner PJ, Torroni A, Cavalli-Sforza LL, Scozzari R, Underhill PA (2002) A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes. Am J Hum Genet 70: 1197-1214
14. Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Jarvela I (2002) Identification of a variant associated with adult-type hypolactasia. Nat Genet 30:233-237
15. Fielding J, Harrington M, Fottrell P (1981) The incidence of primary hypolactasia amongst the Irish. Ir J Med Sci 150: 276-277
16. Flatz G (1987) Genetics of lactose digestion in humans. Adv Hum Genet 16:1-77
17. Guo SW, Thompson EA (1992) Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48:361-372
18. Hoegenauer C, Hammer HF, Mellitzer K, Renner W, Toplak H (2003) Evaluation of a new genetic test compared to the lactose hydrogen breath test for the diagnosis of acquired primary lactase deficiency. Gastroenterlogy Suppl 124:A64
19. Holden C, Mace R (1997) Pbylogenetic analysis of the evolution of lactase digestion in adults. Hum Biol 69:605-628
20. Hollox EJ, Poulter M, Zvarik M, Ferak V, Krause A, Jenkins T, Saha N, Kozlov AI, Swallow DM (2001) Lactase haplotype diversity in the Old World. Am J Hum Genet 68: 160-172
21. Howell JN, Schockenhoff T, Flatz G (1981) Population screening for the human adult lactase phenotypes with a multiple breath version of the breath hydrogen test. Hum Genet 57: 276-278
22. Kayser M, de Knijff P, Dieltjes P, Krawczak M, Nagy M, Zerjal T, Pandya A, Tyler-Smith C, Roewer L (1997) Applications of microsatellite-based Y chromosome haplotyping. Electrophoresis 18:1602-1607
23. Kretchmer N, Ransome-Kuti O, Hurwitz R, Dungy C, Alakija W (1971) Intestinal absorption of lactose in Nigerian ethnic groups. Lancet 2:392-395
24. Kuokkanen M, Enattah NS, Oksanen A, Savilahti E, Orpana A, Jarvela I (2003) Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia. Gut 52:647-652
25. Kurt I, Abou Ghoush M, Hasimi A, Serdar M, Kutluay T (2003) Comparison of indirect methods of lactose absorption. Turk J Med Sci 33:103-110
26. Mathias N, Bayes M, Tyler-Smith C (1994) Highly informative compound haplotypes for the human Y chromosome. Hum Mol Genet 3:115-123
27. Murdock G (1967) Ethnographic atlas. University of Pittsburgh Press, Pittsburgh
28. Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York
29. Newcomer A, McGill DB, Thomas P, Hofmann A (1975) Prospective comparison of indirect methods for detecting lactase deficiency. N Engl J Med 24:1232-1235
30. Newman J (1995) The peopling of Africa: a geographic interpretation. Yale University Press, New Haven, CT
31. Nurse G, Jenkins T (1974) Lactose intolerance in San populations. Br Med J 2:728
32. O'Keefe S, Adam J (1983) Primary lactose intolerance in Zulu adults. S Afr Med J 63:778-780
33. O'Keefe S, Adam J, Cakata E, Epstein S (1984) Nutritional support of malnourished lactose intolerant African patients. Gut 25:942-947
34. Olatunbosun D, Adadevoh B (1971) Lactase deficiency in Nigerians. Am J Dig Dis 16:909-914
35. Olds LC, Sibley E (2003) Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element. Hum Mol Genet 12:2333-2340
36. Parra EJ, Marcini A, Akey J, Martinson J, Batzer MA, Cooper R, Forrester T, Allison DB, Deka R, Ferrell RE, Shriver MD (1998) Estimating African American admixture proportions by use of population-specific alleles. Am J Hum Genet 63: 1839-1851
37. Poulter M, Hollox E, Harvey CB, Mulcare C, Peuhkuri K, Kajander K, Sarner M, Korpela R, Swallow DM (2003) The causal element for the lactase persistence/non-persistence polymorphism is located in a 1 Mb region of linkage disequilibrium in Europeans. Ann Hum Genet 67:298-311
38. Puehkuri K (2000) Lactose, lactase and bowel disorders. PhD thesis, Hakapaino, Helsinki, http://ethesis.helsinki.fi/julkaisut/laa/biola/vk/peuhkuri/ (accessed April 5, 2004)
39. Ransome-Kuti O, Kretchmer N, Johnson J, Gribble J (1972) Family studies of lactose intolerance in Nigerian ethnic groups. Pediatr Res 6:359
40. - (1975) A genetic study of lactose digestion in Nigerian families. Gastroenterology 68:431-436
41. Sahi T (1974) The inheritance of selective adult-type lactose malabsorption. Scand J Gastroenterol Suppl:1-73
42. Segal I, Gagjee P, Essop A, Noormohamed A (1983) Lactase deficiency in the South African black population. Am J Clin Nutr 38:901-905
43. Swallow DM, Harvey CB (1993) Genetics of adult-type hypolactasia. Dyn Nutr Res 3:1-7
44. Swallow DM, Hollox EJ (2000) The genetic polymorphism of intestinal lactase activity in adult humans. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 8th ed. McGraw-Hill, New York
45. Thomas MG, Bradman N, Flinn HM (1999) High throughput analysis of 10 microsatellite and 11 diallelic polymorphisms on the human Y-chromosome. Hum Genet 105:577-581
46. Troelsen JT, Olsen J, Moller J, Sjostrom H (2003) An upstream polymorphism associated with lactase persistence has increased enhacer activity. Gastroenterology 125:1686-1694
47. Y-chromosome consortium (2002) A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 12:339-348