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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A novel polymorphism associated with lactose tolerance in Africa: Multiple causes for lactase persistence?
Human Genetics, Volume 120, No. 6, Year 2007
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Description
Persistence or non-persistence of lactase expression into adult life is a polymorphic trait that has been attributed to a single nucleotide polymorphism (C-13910T) in an enhancer element 13.9 kb upstream of the lactase gene (LCT). The -13910*T allele occurs at very high frequency in northern Europeans as part of a very long haplotype (known as A), and promotes binding of the transcription factor Oct-1. However, -13910*T is at very low frequency in many African milk drinking pastoralist groups where lactase persistence phenotype has been reported at high frequency. We report here for the first time, a cohort study of lactose digester and non-digester Sudanese volunteers and show there is no association of -13910*T or the A haplotype with lactase persistence. We support this finding with new genotype/phenotype frequency comparisons in pastoralist groups of eastern African and Middle Eastern origin. Resequencing revealed three new SNPs in close proximity to -13910*T, two of which are within the Oct-1 binding site. The most frequent of these (-13915*G) is associated with lactose tolerance in the cohort study, providing evidence for a cis -acting effect. Despite its location, -13915*G abolishes, rather than enhances Oct-1 binding, indicating that this particular interaction is unlikely to be involved in lactase persistence. This study reveals the complexity of this phenotypic polymorphism and highlights the limitations of C-13910T as a diagnostic test for lactase persistence status, at least for people with non-European ancestry. © Springer-Verlag 2006.
Authors & Co-Authors
Ingram, Catherine J.E.
United Kingdom, London
University College London
Elamin, Mohamed F.
United Kingdom, London
University College London
South Africa
Elrazi College of Medical and Health Sciences
Mulcare, Charlotte A.
United Kingdom, London
University College London
Weale, Michael E.
United Kingdom, London
University College London
United States, Durham
Duke University
Tarekegn, Ayele
United Kingdom, London
University College London
Raga, Tamiru Oljira
Ethiopia, Addis Ababa
Addis Ababa University
Bekele, Endashaw
Ethiopia, Addis Ababa
Addis Ababa University
Elamin, Farouk M.
South Africa
Elrazi College of Medical and Health Sciences
Thomas, Mark G.
United Kingdom, London
University College London
Bradman, Neil N.
United Kingdom, London
University College London
Swallow, Dallas M.A.
United Kingdom, London
University College London
Statistics
Citations: 250
Authors: 11
Affiliations: 4
Identifiers
Doi:
10.1007/s00439-006-0291-1
ISSN:
03406717
Research Areas
Genetics And Genomics
Study Design
Cohort Study
Study Approach
Quantitative