Lactase haplotype frequencies in Caucasians: Association with the lactase persistence/non-persistence polymorphism
Harvey CB et al: Lactase haplotype frequencies in Caucasians: association with the lactase persistence/non-persistence polymorphism. Ann Hum Genet 1998; 62 (Part 3): 215-223.
The causal element for the lactase persistence/non-persistence polymorphism is located in a 1 Mb region of linkage disequilibrium in Europeans
Poulter M et al: 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 2003; 67: 298-311.
A stochastic model of gene-culture coevolution suggested by the 'culture historical hypothesis' for the evolution of adult lactose absorption in humans
Aoki K: A stochastic model of gene-culture coevolution suggested by the 'culture historical hypothesis' for the evolution of adult lactose absorption in humans. Proc Natl Acad Sci USA 1986; 83: 2929-2933.
Lactase deficiency - Biological and medical aspects of the adult human lactase polymorphism
King RA, Rotter JI, Motulsky AG (eds): Oxford: Oxford University Press
Hollox EJ, Swallow DM: Lactase deficiency - biological and medical aspects of the adult human lactase polymorphism; in King RA, Rotter JI, Motulsky AG (eds): The Genetic Basis of Common Diseases. Oxford: Oxford University Press, 2002.
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
Mulcare CA 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.
An upstream polymorphism associated with lactase persistence has increased enhancer activity
Troelsen JT et al: An upstream polymorphism associated with lactase persistence has increased enhancer activity. Gastroenterology 2003; 125: 1686-1694.