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Timothy Frayling

Research Profile

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Type 2 Diabetes Mellitus

Physiology

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TOP 3
Timothy M Frayling
Are the causes of obesity primarily environmental? No.
Andrew R Wood; Hanieh Yaghootkar; Stefania Bandinelli; Sean Chong; Luigi Ferrucci; J Raphael Gibbs; Jack M Guralnik; Lorna W Harries; Dena G Hernandez; David Melzer; Matthew Moore; Anna Murray; Michael A Nalls; Andrew Singleton; Michael N Weedon; Timothy M Frayling
Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association.
Lorna W Harries; William Henley; Dena Hernandez; Alice C Holly; Stefania Bandinelli; Rachel M Bradley-Smith; Ambarish Dutta; Luigi Ferrucci; Timothy M Frayling; Jack M Guralnik; Anna Murray; Andrew Singleton; Andrew R Wood; Hanieh Yaghootkar; David Melzer
Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing.

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All Publications

2012: Timothy M Frayling
Are the causes of obesity primarily environmental? No.
BMJ (Clinical research ed.) 2012;345():e5844.
2011: Andrew R Wood; Hanieh Yaghootkar; Stefania Bandinelli; Sean Chong; Luigi Ferrucci; J Raphael Gibbs; Jack M Guralnik; Lorna W Harries; Dena G Hernandez; David Melzer; Matthew Moore; Anna Murray; Michael A Nalls; Andrew Singleton; Michael N Weedon; Timothy M Frayling
Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association.
Human molecular genetics 2011;20(20):4082-92.
2011: Lorna W Harries; William Henley; Dena Hernandez; Alice C Holly; Stefania Bandinelli; Rachel M Bradley-Smith; Ambarish Dutta; Luigi Ferrucci; Timothy M Frayling; Jack M Guralnik; Anna Murray; Andrew Singleton; Andrew R Wood; Hanieh Yaghootkar; David Melzer
Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing.
Aging cell 2011;10(5):868-78.
2011: Timothy M Frayling; Ken Ong
Piecing together the FTO jigsaw.
Genome biology 2011;12(2):104.
2011: Jordana Tzenova Bell; Nicholas J Timpson; N William Rayner; Eleftheria Zeggini; Timothy M Frayling; Andrew T Hattersley; Andrew P Morris; Mark I McCarthy
Genome-wide association scan allowing for epistasis in type 2 diabetes.
Annals of human genetics 2011;75(1):10-9.
2011: B Jafar-Mohammadi; Christopher J Groves; A P Gjesing; B M Herrera; W Winckler; H M Stringham; Andrew P Morris; torsten lauritzen; Alex S F Doney; Andrew D Morris; Michael Weedon; A J Swift; J Kuusisto; M Laakso; D Altshuler; Andrew T Hattersley; F S Collins; M Boehnke; T Hansen; O Pedersen; C N A Palmer; Timothy M Frayling; Anna L Gloyn; Mark I McCarthy
A role for coding functional variants in HNF4A in type 2 diabetes susceptibility.
Diabetologia 2011;54(1):111-9.
2010: Christie Cluett; Carol Brayne; Robert Clarke; Grimley Evans; Fiona Matthews; David C Rubinsztein; Felicia Huppert; David Llewellyn; Neil Rice; William Henley; Timothy M Frayling; Anna Murray; David Melzer
Polymorphisms in LMNA and near a SERPINA gene cluster are associated with cognitive function in older people.
Neurobiology of aging 2010;31(9):1563-8.
2010: Sajjad Rafiq; Timothy M Frayling; T J Vyse; D S Cunninghame Graham; P Eggleton
Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus.
Clinical and experimental immunology 2010;161(2):284-9.
2010: Andrew P Morris; Cecilia M Lindgren; Eleftheria Zeggini; Nicholas J Timpson; Timothy M Frayling; Andrew T Hattersley; Mark I McCarthy
A powerful approach to sub-phenotype analysis in population-based genetic association studies.
Genetic epidemiology 2010;34(4):335-43.
2010: N Maneka G De Silva; Timothy M Frayling
Novel biological insights emerging from genetic studies of type 2 diabetes and related metabolic traits.
Current opinion in lipidology 2010;21(1):44-50.
2010: Hana Lango Allen; Stefan Johansson; Sian Ellard; Beverley Shields; Jens K Hertel; Helge Raeder; Kevin Colclough; Anders Molven; Timothy M Frayling; Pål R Njølstad; Andrew T Hattersley; Michael Weedon
Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.
Diabetes 2010;59(1):266-71.
2009: J R B Perry; Luigi Ferrucci; S Bandinelli; J Guralnik; Richard D Semba; N Rice; D Melzer; R Saxena; L J Scott; M I McCarthy; Andrew T Hattersley; E Zeggini; Michael Weedon; Timothy M Frayling
Circulating beta-carotene levels and type 2 diabetes-cause or effect?
Diabetologia 2009;52(10):2117-21.
2009: Lorraine Southam; N Soranzo; S B Montgomery; Timothy M Frayling; Mark I McCarthy; I Barroso; Eleftheria Zeggini
Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
Diabetologia 2009;52(9):1846-51.
2009: Christie Cluett; Mary McGrae McDermott; Jack Guralnik; Luigi Ferrucci; Stefania Bandinelli; Iva Miljkovic; Joseph Zmuda; Rongling Li; Greg Tranah; Tamara Harris; Neil Rice; William Henley; Timothy M Frayling; Anna Murray; David Melzer
The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people.
Circulation. Cardiovascular genetics 2009;2(4):347-53.
2009: Timothy M Frayling
Commentary: A new dawn for genetic epidemiology?
International journal of epidemiology 2009;38(4):975-7.
2009: John R B Perry; Mark I McCarthy; Andrew T Hattersley; Eleftheria Zeggini; Michael Weedon; Timothy M Frayling
Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach.
Diabetes 2009;58(6):1463-7.
2009: Rachel M Freathy; Amanda J Bennett; Susan M Ring; Beverley Shields; Christopher J Groves; Nicholas J Timpson; Michael Weedon; Eleftheria Zeggini; Cecilia M Lindgren; Hana Lango; John R B Perry; Anneli Pouta; Aimo Ruokonen; Elina Hyppönen; Chris Power; Paul Elliott; David P Strachan; Marjo-Riitta Järvelin; George Davey Smith; Mark I McCarthy; Timothy M Frayling; Andrew T Hattersley
Type 2 diabetes risk alleles are associated with reduced size at birth.
Diabetes 2009;58(6):1428-33.
2009: Nicholas J Timpson; Cecilia M Lindgren; Michael Weedon; Joshua Randall; Willem H Ouwehand; David P Strachan; N William Rayner; Mark Walker; Graham A Hitman; Alex S F Doney; Colin N A Palmer; Andrew D Morris; Andrew T Hattersley; Eleftheria Zeggini; Timothy M Frayling; Mark I McCarthy
Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
Diabetes 2009;58(2):505-10.
2009: Chittaranjan S Yajnik; C S Janipalli; Seema Bhaskar; Smita Kulkarni; R M Freathy; S Prakash; K R Mani; M N Weedon; Shailaja D Kale; Jyoti A Deshpande; G V Krishnaveni; S R Veena; Caroline H D Fall; M I McCarthy; Timothy M Frayling; Andrew T Hattersley; G R Chandak
FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians.
Diabetologia 2009;52(2):247-52.
2009: Bahram Jafar-Mohammadi; Christopher J Groves; Katharine R Owen; Timothy M Frayling; Andrew T Hattersley; Mark I McCarthy; Anna L Gloyn
Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.
PloS one 2009;4(8):e6615.
2008: Michael Weedon; Timothy M Frayling
Reaching new heights: insights into the genetics of human stature.
Trends in genetics : TIG 2008;24(12):595-603.
2008: Sajjad Rafiq; David Melzer; Michael Weedon; H Lango; R Saxena; L J Scott; C N A Palmer; A D Morris; Mark I McCarthy; Luigi Ferrucci; Andrew T Hattersley; E Zeggini; Timothy M Frayling
Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
Diabetologia 2008;51(12):2205-13.
2008: Inês Barroso; Jian'an Luan; Eleanor Wheeler; Pamela Whittaker; Jon Wasson; Eleftheria Zeggini; Michael N Weedon; Sarah Hunt; Ranganath Venkatesh; Timothy M Frayling; Marcos Delgado; Rosalind J Neuman; Jinghua Zhao; Richard Sherva; Benjamin Glaser; Mark Walker; Graham A Hitman; Mark I McCarthy; Andrew T Hattersley; M Alan Permutt; Nicholas J Wareham; Panos Deloukas
Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies.
Diabetes 2008;57(11):3161-5.
2008: Hana Lango; Colin N A Palmer; Andrew D Morris; Eleftheria Zeggini; Andrew T Hattersley; Mark I McCarthy; Timothy M Frayling; Michael Weedon
Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
Diabetes 2008;57(11):3129-35.
2008: Timothy M Frayling; H Colhoun; J C Florez
A genetic link between type 2 diabetes and prostate cancer.
Diabetologia 2008;51(10):1757-60.
2008: John R B Perry; Timothy M Frayling
New gene variants alter type 2 diabetes risk predominantly through reduced beta-cell function.
Current opinion in clinical nutrition and metabolic care 2008;11(4):371-7.
2008: Michael Weedon; Nicholas J Timpson; Debbie A Lawlor; Anneli Pouta; Yoav Ben-Shlomo; Aimo Ruokonen; Shah Ebrahim; Beverley Shields; Eleftheria Zeggini; Michael N Weedon; Cecilia M Lindgren; Hana Lango; David Melzer; Luigi Ferrucci; Giuseppe Paolisso; Matthew J Neville; Fredrik Karpe; Colin N A Palmer; Andrew D Morris; Paul Elliott; Marjo-Riitta Jarvelin; George Davey Smith; Mark I McCarthy; Andrew T Hattersley; Timothy M Frayling
Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI.
Diabetes 2008;57(5):1419-26.
2008: Timothy M Frayling
Commentary: Genetic association studies see light at the end of the tunnel.
International journal of epidemiology 2008;37(1):133-5.
2007: Laura Pascoe; Andrea Tura; Sheila K Patel; Ibrahim M Ibrahim; Ele Ferrannini; Eleftheria Zeggini; Michael Weedon; Andrea Mari; Andrew T Hattersley; Mark I McCarthy; Timothy M Frayling; Mark Walker
Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function.
Diabetes 2007;56(12):3101-4.
2007: Timothy M Frayling; M I McCarthy
Genetic studies of diabetes following the advent of the genome-wide association study: where do we go from here?
Diabetologia 2007;50(11):2229-33.
2007: N M G De Silva; A Steele; Beverley Shields; Beatrice Knight; K Parnell; Michael Weedon; Andrew T Hattersley; Timothy M Frayling
The transcription factor 7-like 2 (TCF7L2) gene is associated with Type 2 diabetes in UK community-based cases, but the risk allele frequency is reduced compared with UK cases selected for genetic studies.
Diabetic medicine : a journal of the British Diabetic Association 2007;24(10):1067-72.
2007: Sajjad Rafiq; Timothy M Frayling; Anna Murray; Alison Hurst; K Stevens; Michael Weedon; William Henley; Luigi Ferrucci; Stefania Bandinelli; Anna-Maria Corsi; Jack M Guralnik; David Melzer
A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects.
Genes and immunity 2007;8(7):552-9.
2007: Timothy M Frayling
Genome-wide association studies provide new insights into type 2 diabetes aetiology.
Nature reviews. Genetics 2007;8(9):657-62.
2007: Manjinder S Sandhu; Michael Weedon; Katherine A Fawcett; Jon Wasson; Sally L Debenham; Allan Daly; Hana Lango; Timothy M Frayling; Rosalind J Neumann; Richard Sherva; Ilana Blech; Paul D P Pharoah; Colin N A Palmer; Charlotte Kimber; Roger Tavendale; Andrew D Morris; Mark I McCarthy; Mark Walker; Graham A Hitman; Benjamin Glaser; M Alan Permutt; Andrew T Hattersley; Nicholas J Wareham; Inês Barroso
Common variants in WFS1 confer risk of type 2 diabetes.
Nature genetics 2007;39(8):951-3.
2007: Timothy M Frayling
A new era in finding Type 2 diabetes genes-the unusual suspects.
Diabetic medicine : a journal of the British Diabetic Association 2007;24(7):696-701.
2007: Michael Weedon; Michael N Weedon; Amanda Bennett; Elina Hypponen; Caroline L Relton; Beatrice Knight; Beverley Shields; Kirstie S Parnell; Christopher J Groves; Susan M Ring; Marcus E Pembrey; Yoav Ben-Shlomo; David P Strachan; Chris Power; Marjo-Riitta Jarvelin; Mark I McCarthy; George Davey Smith; Andrew T Hattersley; Timothy M Frayling
Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals.
American journal of human genetics 2007;80(6):1150-61.
2007: Eleftheria Zeggini; Michael N Weedon; Cecilia M Lindgren; Timothy M Frayling; Katherine S Elliott; Hana Lango; Nicholas J Timpson; John R B Perry; Nigel W Rayner; Michael Weedon; Jeffrey C Barrett; Beverley Shields; Andrew P Morris; Sian Ellard; Christopher J Groves; Lorna W Harries; Jonathan Marchini; Katharine R Owen; Beatrice Knight; Lon R Cardon; Mark Walker; Graham A Hitman; Andrew D Morris; Alex S F Doney; Mark I McCarthy; Andrew T Hattersley
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
Science (New York, N.Y.) 2007;316(5829):1336-41.
2007: Sajjad Rafiq; K Stevens; Alison Hurst; Anna Murray; William Henley; Michael Weedon; Stefania Bandinelli; Anna-Maria Corsi; Jack M Guralnik; Luigi Ferrucci; David Melzer; Timothy M Frayling
Common genetic variation in the gene encoding interleukin-1-receptor antagonist (IL-1RA) is associated with altered circulating IL-1RA levels.
Genes and immunity 2007;8(4):344-51.
2007: David Melzer; Timothy M Frayling; Anna Murray; Alison Hurst; Lorna W Harries; Honglin Song; Kaytee Khaw; Robert Luben; Paul G Surtees; Stefania S Bandinelli; Anna-Maria Corsi; Luigi Ferrucci; Jack M Guralnik; Robert B Wallace; Andrew T Hattersley; Paul D Pharoah
A common variant of the p16(INK4a) genetic region is associated with physical function in older people.
Mechanisms of ageing and development 2007;128(5-6):370-7.
2007: David Melzer; Alison Hurst; Timothy M Frayling
Genetic variation and human aging: progress and prospects.
The journals of gerontology. Series A, Biological sciences and medical sciences 2007;62(3):301-7.
2007: Katharine R Owen; Christopher J Groves; Robert L Hanson; William C Knowler; Alan R Shuldiner; Steven C Elbein; Braxton D Mitchell; philippe froguel; Maggie C Y Ng; Juliana C Chan; Weiping Jia; Panos Deloukas; Graham A Hitman; Mark Walker; Timothy M Frayling; Andrew T Hattersley; Eleftheria Zeggini; Mark I McCarthy
Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects.
Diabetes 2007;56(3):879-83.
2007: Wendy Winckler; Michael Weedon; Robert R Graham; Steven A McCarroll; Shaun Purcell; Peter Almgren; Tiinamaija Tuomi; Daniel Gaudet; Kristina Bengtsson Boström; Mark Walker; Graham A Hitman; Andrew T Hattersley; Mark I McCarthy; Kristin G Ardlie; Joel N Hirschhorn; Mark J Daly; Timothy M Frayling; Leif Groop; David Altshuler
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.
Diabetes 2007;56(3):685-93.
2007: Timothy M Frayling; Sajjad Rafiq; Anna Murray; Alison Hurst; Michael Weedon; William Henley; Stefania Bandinelli; Anna-Maria Corsi; Luigi Ferrucci; Jack M Guralnik; Robert B Wallace; David Melzer
An interleukin-18 polymorphism is associated with reduced serum concentrations and better physical functioning in older people.
The journals of gerontology. Series A, Biological sciences and medical sciences 2007;62(1):73-8.
2007: Giriraj R Chandak; C S Janipalli; Seema Bhaskar; Smita Kulkarni; P Mohankrishna; Andrew T Hattersley; Timothy M Frayling; Chittaranjan S Yajnik
Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population.
Diabetologia 2007;50(1):63-7.
2006: Michael Weedon; Vanessa J Clark; Yudong Qian; Yoav Ben-Shlomo; Nicholas Timpson; Shah Ebrahim; Debbie A Lawlor; Marcus E Pembrey; Susan M Ring; Terence J Wilkin; Linda D Voss; Alison N Jeffery; Brad S Metcalf; Luigi Ferrucci; Anna-Maria Corsi; Anna Murray; David Melzer; Beatrice Knight; Beverley Shields; George Davey Smith; Andrew T Hattersley; Anna Di Rienzo; Timothy M Frayling
A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses.
American journal of human genetics 2006;79(6):991-1001.
2006: Michael Weedon; Beverley Shields; Graham A Hitman; Mark Walker; Mark I McCarthy; Andrew T Hattersley; Timothy M Frayling
No evidence of association of ENPP1 variants with type 2 diabetes or obesity in a study of 8,089 U.K. Caucasians.
Diabetes 2006;55(11):3175-9.
2006: JR Porter; J J Rangasami; S Ellard; A L Gloyn; B M Shields; J Edwards; J M Anderson; Nick J Shaw; A T Hattersley; Timothy M Frayling; M Plunkett; Timothy G Barrett
Asian MODY: are we missing an important diagnosis?
Diabetic medicine : a journal of the British Diabetic Association 2006;23(11):1257-60.
2006: Steven Wiltshire; Jordana Tzenova Bell; Christopher J Groves; Christian Dina; Andrew T Hattersley; Timothy M Frayling; M Walker; Graham A Hitman; Martine Vaxillaire; Martin Farrall; philippe froguel; Mark I McCarthy
Epistasis between type 2 diabetes susceptibility Loci on chromosomes 1q21-25 and 10q23-26 in northern Europeans.
Annals of human genetics 2006;70(Pt 6):726-37.
2006: Michael Weedon; Mark I McCarthy; Graham A Hitman; Mark Walker; Christopher J Groves; Eleftheria Zeggini; Nigel W Rayner; Beverley Shields; Katharine R Owen; Andrew T Hattersley; Timothy M Frayling
Combining information from common type 2 diabetes risk polymorphisms improves disease prediction.
PLoS medicine 2006;3(10):e374.
2006: Christopher J Groves; Eleftheria Zeggini; Jayne A L Minton; Timothy M Frayling; Michael Weedon; Nigel W Rayner; Graham A Hitman; Mark Walker; Steven Wiltshire; Andrew T Hattersley; Mark I McCarthy
Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk.
Diabetes 2006;55(9):2640-4.
2006: Anna L Gloyn; Deborah J G Mackay; Michael Weedon; Mark I McCarthy; Mark Walker; Graham A Hitman; Bridget A Knight; Katharine R Owen; Andrew T Hattersley; Timothy M Frayling
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 2006;55(8):2272-6.
2006: S Patel; Jayne A L Minton; Michael Weedon; Timothy M Frayling; Christopher Ricketts; Graham A Hitman; Mark I McCarthy; Andrew T Hattersley; Mark Walker; Timothy G Barrett
Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population.
Diabetologia 2006;49(6):1209-13.
2006: Michael Weedon; Kathryn F Lonnen; Anna M Steele; Jayne A L Minton; Timothy M Frayling; Andrew T Hattersley; Kenneth M MacLeod
The impact of the angiotensin-converting enzyme insertion/deletion polymorphism on severe hypoglycemia in Type 2 diabetes.
The review of diabetic studies : RDS 2006;3(2):76-81.
2006: David Melzer; Anna Murray; Alison Hurst; Michael Weedon; Stefania Bandinelli; Anna-Maria Corsi; Luigi Ferrucci; Guiseppe Paolisso; Jack M Guralnik; Timothy M Frayling
Effects of the diabetes linked TCF7L2 polymorphism in a representative older population.
BMC medicine 2006;4():34.
2006: Michael Weedon; Simon M S Mitchell; Beatrice Knight; Beverley Shields; Michael N Weedon; Andrew T Hattersley; Timothy M Frayling
A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population.
Journal of negative results in biomedicine 2006;5():18.
2006: Giriraj R Chandak; Kirsten J Ward; Chittaranjan S Yajnik; Anand N Pandit; Ashish Bavdekar; Charu V Joglekar; Caroline H D Fall; P Mohankrishna; Terence J Wilkin; Brad S Metcalf; Michael Weedon; Timothy M Frayling; Andrew T Hattersley
Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans.
BMC medical genetics 2006;7():76.
2006: Michael Weedon; Michael N Weedon; David Melzer; Beverley Shields; Graham A Hitman; Mark Walker; Mark I McCarthy; Andrew T Hattersley; Timothy M Frayling
The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians.
BMC medical genetics 2006;7():51.
2006: Michael Weedon; Michael N Weedon; Beverley Shields; Graham A Hitman; Mark Walker; Mark I McCarthy; Andrew T Hattersley; Timothy M Frayling
Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population.
JOP : Journal of the pancreas 2006;7(3):295-302.
2006: Kirsten J Ward; Sian Ellard; Chittaranjan S Yajnik; Timothy M Frayling; Andrew T Hattersley; Prathyusha N S Venigalla; Giriraj R Chandak
Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.
Lipids in health and disease 2006;5():11.
2005: Eleftheria Zeggini; J R C Parkinson; Stephanie Halford; Katharine R Owen; Mark Walker; Graham A Hitman; Jonathan C Levy; Mike J Sampson; Timothy M Frayling; Andrew T Hattersley; Mark I McCarthy
Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples.
Diabetic medicine : a journal of the British Diabetic Association 2005;22(12):1696-700.
2005: Eleftheria Zeggini; Christopher J Groves; J R C Parkinson; Stephanie Halford; Katharine R Owen; Timothy M Frayling; Mark Walker; Graham A Hitman; Jonathan C Levy; Stephen O'Rahilly; Andrew T Hattersley; Mark I McCarthy
Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes.
Diabetologia 2005;48(10):2013-7.
2005: Michael Weedon; Katharine R Owen; Beverley Shields; Graham A Hitman; Mark Walker; Mark I McCarthy; Andrew T Hattersley; Timothy M Frayling
A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population.
Diabetes 2005;54(8):2487-91.
2005: Michael Weedon; Timothy M Frayling; Beverley Shields; Beatrice Knight; Tina Turner; Brad S Metcalf; Linda D Voss; Terence J Wilkin; Anne McCarthy; Yoav Ben-Shlomo; George Davey Smith; Susan M Ring; Richard Jones; Jean Golding; Liisa Byberg; Vera Mann; Tomas Axelsson; Ann-Christine Syvänen; David Leon; Andrew T Hattersley
Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene.
Diabetes 2005;54(2):576-81.
2004: C F Liew; Christopher J Groves; Steven Wiltshire; Eleftheria Zeggini; Timothy M Frayling; Katharine R Owen; Mark Walker; Graham A Hitman; Jonathan C Levy; Stephen O'Rahilly; Andrew T Hattersley; Desmond G Johnston; Mark I McCarthy
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 2004;47(12):2168-75.
2004: Eleftheria Zeggini; James Parkinson; Stephanie Halford; Katharine R Owen; Timothy M Frayling; Mark Walker; Graham A Hitman; Jonathan C Levy; Mike J Sampson; Edith J M Feskens; Andrew T Hattersley; Mark I McCarthy
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 2004;53(12):3319-22.
2004: Michael Weedon; Katharine R Owen; Beverley Shields; Graham A Hitman; Mark Walker; Mark I McCarthy; Latisha Love-Gregory; M Alan Permutt; Andrew T Hattersley; Timothy M Frayling
Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population.
Diabetes 2004;53(11):3002-6.
2004: Anna L Gloyn; Ewan R Pearson; Jennifer F Antcliff; Peter Proks; G Jan Bruining; Annabelle S Slingerland; Neville Howard; Shubha Srinivasan; José M C L Silva; Janne Molnes; Emma L Edghill; Timothy M Frayling; I Karen Temple; Deborah Mackay; Julian P H Shield; Zdenek Sumnik; Adrian van Rhijn; J K H Wales; Penny Clark; Shaun Gorman; Javier Aisenberg; Sian Ellard; Pål R Njølstad; Frances M Ashcroft; Andrew T Hattersley
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
The New England journal of medicine 2004;350(18):1838-49.
2004: Steven Wiltshire; Timothy M Frayling; Christopher J Groves; Jonathan C Levy; Graham A Hitman; Mike Sampson; Mark Walker; Stephan Menzel; Andrew T Hattersley; Lon R Cardon; Mark I McCarthy
Evidence from a large U.K. 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 2004;53(3):855-60.
2004: Simon M S Mitchell; Andrew T Hattersley; Beatrice Knight; Tina Turner; Brad S Metcalf; Linda D Voss; David Davies; Anne McCarthy; Terence J Wilkin; George Davey Smith; Yoav Ben-Shlomo; Timothy M Frayling
Lack of support for a role of the insulin gene variable number of tandem repeats minisatellite (INS-VNTR) locus in fetal growth or type 2 diabetes-related intermediate traits in United Kingdom populations.
The Journal of clinical endocrinology and metabolism 2004;89(1):310-7.
2003: Kirsten J Ward; Beverley Shields; Beatrice Knight; Maurice B Salzmann; Andrew T Hattersley; Timothy M Frayling
Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy.
Lipids in health and disease 2003;2():9.
2003: Michael Weedon; P E H Schwarz; Yukio Horikawa; Naoko Iwasaki; Thomas Illig; Rolf Holle; Wolfgang Rathmann; Thomas Selisko; Jan Schulze; Katharine R Owen; Julie Evans; Laura Del Bosque-Plata; Graham A Hitman; Mark Walker; Jonathan C Levy; Mike Sampson; Graeme I Bell; Mark I McCarthy; Andrew T Hattersley; Timothy M Frayling
Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility.
American journal of human genetics 2003;73(5):1208-12.
2003: Michael Weedon; Martina Turner; Beatrice Knight; Penny Clark; Andrew T Hattersley; Timothy M Frayling
Variants in the aromatase gene and on the Y-chromosome are not associated with adult height or insulin resistance in a UK population.
Clinical endocrinology 2003;59(2):175-9.
2003: Timothy M Frayling; Steven Wiltshire; Graham A Hitman; Mark Walker; Jonathan C Levy; Mike Sampson; Christopher J Groves; Stephan Menzel; Mark I McCarthy; Andrew T Hattersley
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 2003;52(7):1857-63.
2003: Michael Weedon; Anna L Gloyn; Timothy M Frayling; A T Hattersley; G Davey Smith; Y Ben-Shlomo
Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2.
Diabetologia 2003;46(7):1021-3.
2003: Christopher J Groves; Steven Wiltshire; Damian Smedley; Katharine R Owen; Timothy M Frayling; Mark Walker; Graham A Hitman; Jonathan C Levy; Stephen O'Rahilly; Stephan Menzel; Andrew T Hattersley; Mark I McCarthy
Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility.
Diabetes 2003;52(5):1300-5.
2003: Simon M S Mitchell; Michael Weedon; Katharine R Owen; Beverley Shields; Beverley Wilkins-Wall; Mark Walker; Mark I McCarthy; Timothy M Frayling; Andrew T Hattersley
Genetic variation in the small heterodimer partner gene and young-onset type 2 diabetes, obesity, and birth weight in U.K. subjects.
Diabetes 2003;52(5):1276-9.
2003: Timothy M Frayling; Cecilia M Lindgren; Jean Claude Chevre; Stephan Menzel; Marie Wishart; Yamina Benmezroua; Alison Brown; Julie C Evans; Pamidghantam Subba Rao; Christian Dina; Cécile Lecoeur; Timo Kanninen; Peter Almgren; Michael P Bulman; Youxiang Wang; James Mills; Rosemarie Wright-Pascoe; Melanie M Mahtani; Francesco Prisco; Angels Costa; Ignacio Cognet; Torben Hansen; Oluf Pedersen; Sian Ellard; Tiinamaija Tuomi; Leif C Groop; philippe froguel; Andrew T Hattersley; Martine Vaxillaire
A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity.
Diabetes 2003;52(3):872-81.
2003: Christopher R Lockwood; Coralie Bingham; Timothy M Frayling
In silico searching of human and mouse genome data identifies known and unknown HNF1 binding sites upstream of beta-cell genes.
Molecular genetics and metabolism 2003;78(2):145-51.
2003: Anna L Gloyn; Michael Weedon; Katharine R Owen; Martina J Turner; Bridget A Knight; Graham A Hitman; Mark Walker; Jonathan C Levy; Mike Sampson; Stephanie Halford; Mark I McCarthy; Andrew T Hattersley; Timothy M Frayling
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.
Diabetes 2003;52(2):568-72.
2003: Christopher R Lockwood; Timothy M Frayling
Combining genome and mouse knockout expression data to highlight binding sites for the transcription factor HNF1alpha.
In silico biology 2003;3(1-2):57-70.
2002: Amanda Stride; Maggie Shepherd; Timothy M Frayling; Michael P Bulman; Sian Ellard; Andrew T Hattersley
Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers.
Diabetes care 2002;25(12):2287-91.
2002: Simon M S Mitchell; Timothy M Frayling
The role of transcription factors in maturity-onset diabetes of the young.
Molecular genetics and metabolism 2002;77(1-2):35-43.
2002: Simon M S Mitchell; Martine Vaxillaire; Heike Thomas; Marcelina Parrizas; Yamina Benmezroua; Angels Costa; Torben Hansen; Katharine R Owen; Tiinamaija Tuomi; F Pirie; Gerhart U Ryffel; J Ferrer; philippe froguel; Andrew T Hattersley; Timothy M Frayling
Rare variants identified in the HNF- 4 alpha beta-cell-specific promoter and alternative exon 1 lack biological significance in maturity onset diabetes of the young and young onset Type II diabetes.
Diabetologia 2002;45(9):1344-8.
2002: Timothy M Frayling; Andrew T Hattersley; Anne McCarthy; Jeff Holly; Simon M S Mitchell; Anna L Gloyn; Katharine R Owen; David Davies; George Davey Smith; Yoav Ben-Shlomo
A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations.
Diabetes 2002;51(7):2313-6.
2002: Angela C Shore; J C Evans; Timothy M Frayling; Penny M Clark; BC Lee; Y Horikawa; Andrew T Hattersley; John E Tooke
Association of calpain-10 gene with microvascular function.
Diabetologia 2002;45(6):899-904.
2002: Simon M S Mitchell; Anna L Gloyn; Katharine R Owen; Andrew T Hattersley; Timothy M Frayling
The role of the HNF4alpha enhancer in type 2 diabetes.
Molecular genetics and metabolism 2002;76(2):148-51.
2002: Lema Haddad; Julie C Evans; Neda Gharani; Carole Robertson; Karen Rush; Steven Wiltshire; Timothy M Frayling; Terence J Wilkin; Andrew G Demaine; Ann Millward; Andrew T Hattersley; Gerry Conway; Nancy J Cox; Graeme I Bell; Stephen Franks; Mark I McCarthy
Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome.
The Journal of clinical endocrinology and metabolism 2002;87(6):2606-10.
2002: Anna L Gloyn; Minal Desai; Anne Clark; Jonathan C Levy; Rury R Holman; Timothy M Frayling; Andrew T Hattersley; Stephen J H Ashcroft
Human calcium/calmodulin-dependent protein kinase II gamma gene (CAMK2G): cloning, genomic structure and detection of variants in subjects with type II diabetes.
Diabetologia 2002;45(4):580-3.
2002: Jayne A L Minton; Andrew T Hattersley; Katharine Owen; Mark I McCarthy; Mark Walker; Farida Latif; Timothy Barrett; Timothy M Frayling
Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations.
Diabetes 2002;51(4):1287-90.
2002: Steven Wiltshire; Timothy M Frayling; Andrew T Hattersley; Graham A Hitman; Mark Walker; Jonathan C Levy; Stephen O'Rahilly; Christopher J Groves; Stephan Menzel; Lon R Cardon; Mark I McCarthy
Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes.
American journal of human genetics 2002;70(2):543-6.
2002: Stephen Lynn; Julie C Evans; Christopher White; Timothy M Frayling; Andrew T Hattersley; Douglass M Turnbull; Yukio Horikawa; Nancy J Cox; Graeme I Bell; Mark Walker
Variation in the calpain-10 gene affects blood glucose levels in the British population.
Diabetes 2002;51(1):247-50.
2001: Heike Thomas; K Jaschkowitz; Michael P Bulman; Timothy M Frayling; Simon M S Mitchell; S Roosen; A Lingott-Frieg; C J Tack; Sian Ellard; Gerhart U Ryffel; Andrew T Hattersley
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young.
Human molecular genetics 2001;10(19):2089-97.
2001: Steven Wiltshire; Andrew T Hattersley; Graham A Hitman; Mark Walker; Jonathan C Levy; M Sampson; Stephen O'Rahilly; Timothy M Frayling; J I Bell; G Mark Lathrop; Amanda Bennett; R Dhillon; C Fletcher; Christopher J Groves; E Jones; P Prestwich; N Simecek; PV Rao; Marie Wishart; Gian Franco Bottazzo; R Foxon; S Howell; Damian Smedley; Lon R Cardon; Stephan Menzel; Mark I McCarthy
A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (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 2001;69(3):553-69.
2001: Julie C Evans; Timothy M Frayling; Paul G Cassell; PJ Saker; Graham A Hitman; Mark Walker; Jonathan C Levy; Stephen O'Rahilly; PV Rao; A J Bennett; E C Jones; Stephan Menzel; P Prestwich; N Simecek; Marie Wishart; R Dhillon; C Fletcher; Ann Millward; Andrew G Demaine; T Wilkin; Y Horikawa; N J Cox; Graeme I Bell; Sian Ellard; Mark I McCarthy; Andrew T Hattersley
Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom.
American journal of human genetics 2001;69(3):544-52.
2001: Timothy M Frayling; Julie C Evans; Michael P Bulman; Ewan R Pearson; L Allen; Katharine R Owen; Coralie Bingham; Michael M Hannemann; Maggie Shepherd; Sian Ellard; Andrew T Hattersley
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
Diabetes 2001;50 Suppl 1():S94-100.
2001: Ewan R Pearson; G Velho; Penny Clark; Amanda Stride; Maggie Shepherd; Timothy M Frayling; Michael P Bulman; Sian Ellard; philippe froguel; Andrew T Hattersley
beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations.
Diabetes 2001;50 Suppl 1():S101-7.
2001: Timothy M Frayling; Andrew T Hattersley
The role of genetic susceptibility in the association of low birth weight with type 2 diabetes.
British medical bulletin 2001;60():89-101.
2000: Paul G Cassell; PJ Saker; SJ Huxtable; Eleni Kousta; Alan E Jackson; Andrew T Hattersley; Timothy M Frayling; Mark Walker; PG Kopelman; Ambady Ramachandran; C Snehelatha; Graham A Hitman; Mark I McCarthy
Evidence that single nucleotide polymorphism in the uncoupling protein 3 (UCP3) gene influences fat distribution in women of European and Asian origin.
Diabetologia 2000;43(12):1558-64.
2000: Sian Ellard; Michael P Bulman; Timothy M Frayling; Maggie Shepherd; Andrew T Hattersley
Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG-->CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene which causes maturity-onset diabetes of the young (MODY).
Human mutation 2000;16(3):273.
2000: Julie C Evans; Timothy M Frayling; Sian Ellard; Nicholas J Gutowski
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.
Human genetics 2000;106(6):636-8.
2000: Michael P Bulman; Kenro Kusumi; Timothy M Frayling; C McKeown; C Garrett; E S Lander; Carl Schwarz; A T Hattersley; Sian Ellard; Peter D Turnpenny
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
Nature genetics 2000;24(4):438-41.
2000: Stephen Lynn; Andrew T Hattersley; Mark I McCarthy; Timothy M Frayling; Douglass M Turnbull; Mark Walker
Intermediate expansions of a X25/frataxin gene GAA repeat and type II diabetes: assessment using parent-offspring trios.
Diabetologia 2000;43(3):384-5.
2000: Coralie Bingham; Sian Ellard; L Allen; Michael P Bulman; Maggie Shepherd; Timothy M Frayling; P J Berry; Penny M Clark; T Lindner; Graeme I Bell; Gerhart U Ryffel; Anthony J Nicholls; Andrew T Hattersley
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
Kidney international 2000;57(3):898-907.
2000: Timothy M Frayling; Mark I McCarthy; Mark Walker; Jonathan C Levy; Stephen O'Rahilly; Graham A Hitman; PV Rao; A J Bennett; E C Jones; Stephan Menzel; Sian Ellard; Andrew T Hattersley
No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians.
The Journal of clinical endocrinology and metabolism 2000;85(2):853-7.
2000: SJ Huxtable; PJ Saker; L Haddad; Mark Walker; Timothy M Frayling; Jonathan C Levy; Graham A Hitman; Stephen O'Rahilly; Andrew T Hattersley; Mark I McCarthy
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 2000;49(1):126-30.
1999: Timothy M Frayling; Mark Walker; Mark I McCarthy; Julie C Evans; Lisa I S Allen; Stephen Lynn; S Ayres; B Millauer; C Turner; R C Turner; Mike J Sampson; Graham A Hitman; Sian Ellard; Andrew T Hattersley
Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes.
Diabetes 1999;48(12):2475-9.
1999: Peter D Turnpenny; Michael P Bulman; Timothy M Frayling; T K Abu-Nasra; C Garrett; A T Hattersley; Sian Ellard
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
American journal of human genetics 1999;65(1):175-82.
1999: Sian Ellard; Michael P Bulman; Timothy M Frayling; Lisa I S Allen; MJ Dronsfield; C J Tack; Andrew T Hattersley
Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young.
Diabetes 1999;48(4):921-3.
1998: F Beards; Timothy M Frayling; Michael P Bulman; Y Horikawa; L Allen; M Appleton; Graeme I Bell; Sian Ellard; Andrew T Hattersley
Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K.
Diabetes 1998;47(7):1152-4.
1998: Timothy M Frayling; Sian Ellard; J Grove; M Walker; Andrew T Hattersley
C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes.
Lancet 1998;351(9120):1933-4.
1997: Timothy M Frayling; Michael P Bulman; M Appleton; Andrew T Hattersley; Sian Ellard
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes.
Human genetics 1997;101(3):351-4.
1997: Michael P Bulman; MJ Dronsfield; Timothy M Frayling; M Appleton; Stephen C Bain; Sian Ellard; Andrew T Hattersley
A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young.
Diabetologia 1997;40(7):859-62.
1997: Timothy M Frayling; M P Bulamn; Sian Ellard; M Appleton; MJ Dronsfield; A D Mackie; J D Baird; P J Kaisaki; K Yamagata; Graeme I Bell; Stephen C Bain; Andrew T Hattersley
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
Diabetes 1997;46(4):720-5.