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Wellcome Trust Centre for Human Genetics

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Recent publications 

  1. Bennett AJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Taponen S, Hartikainen A-L, King VJ, Elliott P, Jarvelin M-R, McCarthy MI (2004). Variation at the insulin gene VNTR (variable number tandem repeat) polymorphism and early growth: studies in a large Finnish birth cohort. Diabetes 53, 2126-2131
  2. Chinnery PF, Elliott HR, Patel SK, Lambert C, Durham SE, McCarthy MI, Hattersley AT, Hitman GA, Walker M (2005). Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes. Lancet 366;1650-1651
  3. Demenais F, Kanninen T, Lindgren CM, Wiltshire S, Gaget S, Dandrieux C, Almgren P, Hattersley AT, Dina C, Tuomi T, McCarthy MI, Froguel P, Groop LC (2003). A metaanalysis of four European genome screens (GIFT consortium) shows evidence for a novel region on chromosome 17p13-q12 linked to type 2 diabetes. Human Molecular Genetics 12,1865-1973
  4. Desai M, Zeggini E, Horton VA, Owen KR, Hattersley AT, Levy JC, Hitman GA, Walker M, Holman RR, McCarthy MI, Clark A (2006). The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults. Diabetes 55, 1890-1894
  5. Dumas ME, Barton RH, Toye A, Cloarec O, Blancher C, Rothwell A, Fearnside J, Tatoud R, Blanc V, Lindon JC, Mitchell SC, Holmes E, McCarthy MI, Scott J, Gauguier D, Nicholson JK (2006). Metabolic profiling reveals a contribution of gut microbiota to fatty liver phenotype in insulin resistant mice. PNAS 103, 12511-12516
  6. Evans JC, Frayling TM, Cassell PG, Saker PJ, Hitman GA, Walker M, Levy JC, O’Rahilly S, Subba Rao PV, Bennett AJ, Jones EC, Menzel S, Prestwich P, Simecek N, Wishart M, Dhillon R, Fletcher C, Millward A, Demaine A, Wilkin T, Horikawa Y, Cox NJ, Bell GI, Ellard S, McCarthy MI, Hattersley AT (2001). Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. American Journal of Human Genetics 69; 544-552
  7. Florez JC, Wiltshire S, Agapakis CM, Burtt NP, De Bakker PIW, Almgren P, Bengtsson Bostrom K, Tuomi T, Gaudet J, Daly MJ, Hirschhorn JN, McCarthy MI, Altshuler D, Groop L (2006). High-density haplotype structure and association testing of the insulin-degrading enzyme gene with type 2 diabetes in 4,206 people. Diabetes 55:128-135
  8. Frayling TM, Wiltshire S, Hitman GA, Walker M, Levy JC, Sampson M, Groves CJ, Menzel S, McCarthy MI, Hattersley AT (2003). Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22 and 22q11. Diabetes 57:1857-1863
  9. Gloyn AL, Mackay DJG, Weedon MN, McCarthy MI, Walker M, Hitman G, Knight BA, Owen KR, Hattersley AT, Frayling TM. Assessment of the Role of Common Genetic Variation in the Transient Neonatal Diabetes Mellitus (TNDM) Region in Type 2 Diabetes: A Comparative Genomic and Tagging Single Nucleotide Polymorphism Approach. Diabetes 55, 2272-2276
  10. Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman GA, Walker M, J Levy JC, Sampson MJ, Halford S, McCarthy MI, Hattersley AT, Frayling TM (2003). Large scale association studies of variants in genes encoding the pancreatic beta-cell K-ATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with increased risk of Type 2 Diabetes. Diabetes 52:568-572
  11. Groves CJ, Wiltshire S, Smedley D, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, O’Rahilly S, Menzel S, Hattersley AT, McCarthy MI (2003). Association And Haplotype Analysis Of The Insulin Degrading Enzyme (IDE) Gene, A Strong Positional And Biological Candidate For Type 2 Diabetes Susceptibility. Diabetes 52:1300-1305
  12. Groves CJ, Zeggini E, Minton J, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Wiltshire S, Hattersley AT, McCarthy MI (2006). Association analysis of 6736 UK subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes (in press)
  13. Groves CJ, Zeggini E, Walker M, Hitman GA, Levy JC, O’Rahilly S, Hattersley AT, McCarthy MI, Wiltshire S (2006). Further evidence of a quantitative trait locus for body mass index mapping to chromosome 10p in the UK population and the subsequent evaluation of glutamate decarboxylase 2 (GAD2) as a positional candidate. Diabetes 55, 1884-1889
  14. Hattersley AT, McCarthy MI (2005). A question of standards: what makes a good genetic association study? Lancet 366:1315-1323
  15. Huntley D, Hummerich H, Smedley D, Kittivoravitkul S, McCarthy MI, Little P, Sergot M (2003) GANESH: Software for detailed annotation of selected genomic regions. Genome Research 13:2195-2202
  16. Huxtable SJ, Saker PJ, Haddad L, Hattersley AT, Walker M, Frayling TM, Levy JC, Hitman GA, O’Rahilly S, McCarthy MI (2000). Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles Diabetes 49: 126-130
  17. Kelso J, Visagie J, Theiler G, Christoffels A, Bardien-Kruger S, Smedley D, Otgaar D, Greyling G, Jongeneel V, McCarthy MI, Hide T, Hide W (2003). eVOC: A Controlled Vocabulary for Unifying Gene Expression Data. Genome Research 13:1222-1230
  18. Liew CF, Groves CJ, Wiltshire S, Zeggini E, Frayling TM, Owen KR, Walker M, Hitman GA, Levy JC, O’Rahilly S, Hattersley AT, Johnston DG, McCarthy MI (2004) Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-coa desaturase, a key regulator of lipid and carbohydrate metabolism. Diabetologia 47:2168-2175
  19. McCarthy MI, Groop P-H, Hansen T (2005). Making the right associations. Diabetologia 48:1241-1243
  20. McCarthy MI (2004). Progress in defining the molecular basis of type 2 diabetes through susceptibility gene identification. Human Molecular Genetics 13 (Supplement 1): R33-R41
  21. Weedon MN, McCarthy MI, Hitman G, Walker M, Shields B, Owen KR, Frayling TM, Hattersley AT (2006). Combining information from multiple common susceptibility polymorphisms increases the predictive power of genetic information: a study of replicated type 2 diabetes variants. PLOS Medicine (in press)
  22. Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2005). A large-scale association analysis of common variation in the HNF1alpha gene in the UK Caucasian population Diabetes 54:2487-2491
  23. Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Love-Gregory LD, Permutt MA, Hattersley AT, Frayling TM (2004). Common variants of the HNF4alpha P2 promoter are associated with type 2 diabetes in the UK population. Diabetes 53, 3002-3006
  24. Weedon MN, Schwarz PEH, Horikawa Y, Iwasaki N, Illig T, Holle R, Rathmann W, Selisko T, Schulze J, Owen KR, Evans J, del Bosque-Plata L, Hitman G, Walker M, Levy JC, Sampson M, Bell GI, McCarthy MI, Hattersley AT, Frayling TM (2003). Meta-analysis confirms a role for calpain-10 variation in type 2 diabetes susceptibility. American Journal of Human Genetics 73, 1208-1212
  25. Weedon MN, Shields B, Hitman GA, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2006). No evidence of association of ENPP1 variants with type 2 diabetes or obesity in a study of 8089 UK Caucasians. Diabetes (in press)
  26. Whittaker JC, Gharani N, Hindmarsh PC, McCarthy MI (2003). Estimation and testing of parent of origin effects for quantitative traits. American Journal of Human Genetics 72:1035-1039
  27. Wiltshire S, Bell JT, Groves CJ, Dina C, Hattersley AT, Frayling TM, Walker M, Hitman GA, Vaxillaire M, Farrall M, Froguel P, McCarthy MI (2006). Epistasis between Type 2 Diabetes Susceptibility Loci On Chromosomes 1q21-25 And 10q23-26 In northern Europeans. Annals of Human Genetics 70;1-12
  28. Wiltshire S, Cardon LR, McCarthy MI (2002) Evaluating the results of genomewide linkage scans of complex traits by locus counting American Journal of Human Genetics 71: 1175-1182
  29. Wiltshire S, Frayling TM, Groves CJ, Levy JC, Hitman GA, Sampson M, Walker M, Menzel S, Hattersley AT, Cardon LR, McCarthy MI (2004) Evidence from a large UK family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24. Diabetes 53: 855-860
  30. Wiltshire S, Frayling TM, Hattersley AT, Hitman GA, Walker M, Levy JC, O’Rahilly S, Menzel S, Cardon LR, McCarthy MI (2002). Evidence for linkage of stature to chromosome 3p26 in a large UK family data set ascertained for type 2 diabetes. American Journal of Human Genetics 70: 543-547
  31. Wiltshire S, Hattersley AT, Hitman GA, Walker M, Levy JC, Sampson M, O’Rahilly S, Frayling TM, Bell JI, Lathrop GM, Bennett A, Dhillon R, Fletcher C, Groves CJ, Jones E, Prestwich P, Simecek N, Subba Rao PV, Wishart M, Foxon R, Howell S, Smedley D, Cardon LR, Menzel S, McCarthy MI (. A genome-wide scan for loci predisposing to type 2 diabetes in a UK population (2001) The Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. American Journal of Human Genetics 69; 553-569
  32. Wiltshire S, Morris A, McCarthy MI, Cardon LR (2005). How useful is the fine scale mapping of complex trait linkage peaks? Evaluating the impact of additional microsatellite genotyping on the posterior probability of linkage. Genetic Epidemiology 28:1-10
  33. Zeggini E, Damcott CM, Hanson RL, Karim MA, Rayner NW, Groves CJ, Baier LK, Hale TC, Hattersley AT, Hitman GA, Hunt SE, Knowler WC, Mitchell BD, Ng MCY, O’Connell JR, Pollin TI, Vaxillaire M, Walker M, Wang X, Whittaker P, Xiang K, Jia W, Chan JCN, Froguel P, Deloukas P, Shuldiner AR, ELbein SC, McCarthy MI for the International 1q Type 2 diabetes Consortium (2006). Variation within the gene encoding the Upstream Stimulatory Factor 1 (USF1) does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q. Diabetes (in press)
  34. Zeggini E, Parkinson JR, Halford S, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, Sampson J, Feskens EJM, Hattersley AT, McCarthy MI (2004). Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset. Diabetes 53, 3319-3322
  35. Zeggini E, Rayner W, Morris A, Hattersley A, Walker M, Hitman G, Deloukas P, Cardon L, McCarthy MI (2005). HapMap sample size and tagging SNP performance: an evaluation in large-scale empirical and simulated data sets. Nature Genetics 37:1320-1322

 

 

 

 

 

 

 

 

 

  
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