Research Topics
Species | Dallas M SwallowSummaryAffiliation: National Institute for Medical Research Country: UK Publications
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Detail Information
Publications
Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficienciesBuford L Nichols
USDA ARS Children s Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
J Pediatr Gastroenterol Nutr 35:573-9. 2002..Multiple enzyme deficiencies have been reported in some cases of congenital glucoamylase, sucrase, or lactase deficiency. Here we describe such a case and the investigations that we have made to determine the cause of this deficiency...
Genetics of lactase persistence and lactose intoleranceDallas M Swallow
Galton Laboratory, Department of Biology, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, England
Annu Rev Genet 37:197-219. 2003..This single nucleotide polymorphism is located 14 kb upstream from the start of transcription of lactase in an intron of the adjacent gene MCM6. This change does not, however, explain all the variation in lactase expression...
Intolerance to lactose and other dietary sugarsD M Swallow
Medical Research Council Human Biochemical Genetics Unit, Galton Laboratory, Department of Biology, London, United Kingdom
Drug Metab Dispos 29:513-6. 2001..This article reviews this topic and discusses in more detail the current state of our own research on lactase...
Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic groupCatherine J E Ingram
Research Department of Genetics, Evolution and Environment, University College London, Wolfson House, 4 Stephenson Way, London, NW1 2HE, UK
J Mol Evol 69:579-88. 2009..This contrasts with the well-documented observation that positive selection decreases diversity by driving up the frequency of a single advantageous allele, and has implications for association studies...
A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?Catherine J E Ingram
Department of Biology, Galton Laboratory, University College London, Wolfson House, 4 Stephenson Way, London, UK
Hum Genet 120:779-88. 2007..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...
Lactose digestion and the evolutionary genetics of lactase persistenceCatherine J E Ingram
Department of Genetics Evolution and Environment, University College London, London, UK
Hum Genet 124:579-91. 2009....
Prevalence of clinically relevant UGT1A alleles and haplotypes in African populationsLaura J Horsfall
Department of Genetics, Evolution and Environment, University College London, Wolfson House, UK
Ann Hum Genet 75:236-46. 2011....
Evolution of lactase persistence: an example of human niche constructionPascale Gerbault
Research Department of Genetics, Evolution and Environment, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK
Philos Trans R Soc Lond B Biol Sci 366:863-77. 2011..These studies illustrate how genetic and archaeological information can be integrated to bring new insights to the origins and spread of lactase persistence. Finally, we discuss possible improvements to these models...
Alpha1-antitrypsin as a risk for infant and adult respiratory outcomes in a national birth cohortMichael E J Wadsworth
Medical Research Council National Survey of Health and Development, Department of Epidemiology and Public Health, Royal Free Hospital and University College London Medical School, London, United Kingdom
Am J Respir Cell Mol Biol 31:559-64. 2004..Lower alpha1-antitrypsin, as indicated by carrier status for the Z and S alleles, was a risk for infant lower respiratory infection, but not for adult respiratory outcomes...
Serum bilirubin and risk of respiratory disease and deathLaura J Horsfall
Research Department of Primary Care and Population Health, University College London, Royal Free Hospital, Rowland Hill Street, London NW3 2PF, England
JAMA 305:691-7. 2011..Serum total bilirubin levels in healthy patients reflect genetic and environmental factors that could influence the risk of developing respiratory disease...
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 AfricansCharlotte A Mulcare
The Centre for Genetic Anthropology TCGA, University College London, London NW1 2HE, United Kingdom
Am J Hum Genet 74:1102-10. 2004..We also present Y-chromosome data that are consistent with previously reported evidence for a back-migration event into Cameroon, and we comment on the implications for the introgression of the -13.9kb*T allele...
Altered expression and allelic association of the hypervariable membrane mucin MUC1 in Helicobacter pylori gastritisLynne E Vinall
Galton Laboratory, Department of Biology, University College London, London, England
Gastroenterology 123:41-9. 2002..Our aim was to investigate the involvement of MUC1 in chronic gastritis and, by implication, gastric cancer...
Evaluation of a novel reverse-hybridization StripAssay for typing DNA variants useful in diagnosis of adult-type hypolactasiaCarmen G Tag
Institute of Clinical Chemistry and Pathobiochemistry, RWTH University Hospital, D 52074 Aachen, Germany
Clin Chim Acta 392:58-62. 2008..We have recently shown that several novel allelic variants located in close proximity to the C-13910T SNP interfere with the diagnostic accuracy of real-time PCR-based genotyping methods...
Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasiaRalf Weiskirchen
Institute of Clinical Chemistry and Pathobiochemistry, RWTH University Hospital, D 52074 Aachen, Germany
Clin Chim Acta 384:93-8. 2007..Recently, several novel allelic variants have been identified in non-European populations. Three of these variants occur in close proximity to C-13910T, but their effect on the genetic test is unknown...
Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humansKitti Németh
Institute of Food Research, Colney Lane, Norwich NR4 7 UA, UK
Eur J Nutr 42:29-42. 2003..Hence, first-pass metabolism (small intestine-liver) appears to involve a critical deglycosylation step for which the mechanisms are not known...
