L
Luc J. Smink
Researcher at University of Cambridge
Publications - 36
Citations - 7536
Luc J. Smink is an academic researcher from University of Cambridge. The author has contributed to research in topics: Gene & Single-nucleotide polymorphism. The author has an hindex of 25, co-authored 36 publications receiving 7350 citations. Previous affiliations of Luc J. Smink include Wellcome Trust Sanger Institute & JDRF.
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Journal ArticleDOI
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
H Ueda,Howson Jmm.,Laura Esposito,Joanne M. Heward,Hywel Snook,Giselle Chamberlain,Dan Rainbow,Hunter Kmd.,Anne Smith,G Di Genova,G Di Genova,Mathias H. Herr,Mathias H. Herr,Ingrid Dahlman,Ingrid Dahlman,F Payne,Deborah J. Smyth,Christopher E. Lowe,Twells Rcj.,Sarah Howlett,Barry C. Healy,Sarah Nutland,Helen E. Rance,Vincent H. Everett,Luc J. Smink,A C Lam,Heather J. Cordell,Neil Walker,C Bordin,John S. Hulme,Costantino Motzo,Francesco Cucca,J F Hess,Michael L. Metzker,Michael L. Metzker,Jane Rogers,Simon G. Gregory,Amit Allahabadia,Amit Allahabadia,R Nithiyananthan,Eva Tuomilehto-Wolf,Jaakko Tuomilehto,Polly J. Bingley,Kathleen M Gillespie,Dag E. Undlien,Kjersti S. Rønningen,Cristian Guja,Constantin Ionescu-Tirgoviste,David A. Savage,Alexander P. Maxwell,Dennis Carson,Christopher Patterson,Jayne A. Franklyn,David Clayton,Laurence B. Peterson,Linda S. Wicker,John A. Todd,Gough Scl. +57 more
TL;DR: In this article, the authors identify polymorphisms of the cytotoxic T lymphocyte antigen 4 gene (CTLA4) as candidates for primary determinants of risk of the common autoimmune disorders Graves' disease, autoimmune hypothyroidism and type 1 diabetes.
Journal ArticleDOI
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
John A. Todd,Neil Walker,Jason D. Cooper,Deborah J. Smyth,Kate Downes,Vincent Plagnol,Rebecca Bailey,Sergey Nejentsev,Sarah F. Field,Felicity Payne,Christopher E. Lowe,Jeffrey S. Szeszko,Jason P. Hafler,Lauren R. Zeitels,Jennie H M Yang,Adrian Vella,Adrian Vella,Sarah Nutland,Helen Stevens,Helen Schuilenburg,Gillian Coleman,Meeta Maisuria,William Meadows,Luc J. Smink,Barry C. Healy,Oliver S. Burren,Alex C. Lam,Nigel R. Ovington,James E. Allen,Ellen C. Adlem,H. T. Leung,Chris Wallace,Joanna M. M. Howson,Cristian Guja,Constantin Ionescu-Tirgoviste,Matthew J. Simmonds,Joanne M. Heward,Stephen C. L. Gough,David B. Dunger,Linda S. Wicker,David Clayton +40 more
TL;DR: This study increases the number of T1D loci with compelling evidence from six to at least ten, with evidence for chromosome 18q22 and 18p11, which showed association with autoimmune thyroid disease.
Journal ArticleDOI
The DNA sequence of human chromosome 22
Ian Dunham,Nobuyoshi Shimizu,Bruce A. Roe,S. Chissoe,Adrienne Hunt,Joanna Collins,Richard Bruskiewich,David Beare,Michele Clamp,Luc J. Smink,R Ainscough,J P Almeida,A K Babbage,C L Bagguley,J Bailey,K F Barlow,K Bates,O. Beasley,Christine P. Bird,S. Blakey,Anne Bridgeman,D. Buck,J. Burgess,J. Burgess,W Burrill,John Burton,C Carder,Nigel P. Carter,Yuan Chen,Graeme T Clark,S. M. Clegg,V. Cobley,Charlotte G. Cole,R. E. Collier,R. Connor,D. Conroy,N Corby,G. J. Coville,Antony V. Cox,J. C. Davis,J. C. Davis,Elisabeth Dawson,Pawandeep Dhami,C. Dockree,S. J. Dodsworth,Richard Durbin,Andrew D. Ellington,Kathryn L. Evans,J. M. Fey,K. Fleming,Lisa French,A. A. Garner,James G. R. Gilbert,Melanie E. Goward,Darren Grafham,Mark Griffiths,C. Hall,C. Hall,Rebekah Hall,G. Hall-Tamlyn,R. W. Heathcott,R. W. Heathcott,Shuk-Mei Ho,S. Holmes,Sarah E. Hunt,Matthew Jones,J K Kershaw,A M Kimberley,A. King,Gavin K. Laird,Cordelia Langford,Margaret A. Leversha,Christine Lloyd,D. M. Lloyd,I. D. Martyn,M Mashreghi-Mohammadi,Lucy Matthews,O. T. McCann,Joseph L. McClay,Stuart McLaren,Amanda McMurray,Sarah Milne,B. J. Mortimore,C. Odell,R. Pavitt,A. V. Pearce,D. Pearson,Benjamin Phillimore,Sam Phillips,Robert W. Plumb,H. Ramsay,Y. Ramsey,Lesley J. Rogers,Mark T. Ross,Carol Scott,Harminder Sehra,C. D. Skuce,S. Smalley,Michelle Smith,Carol Soderlund,L. Spragon,Charles A. Steward,John Sulston,R. M. Swann,M. Vaudin,M. Vaudin,Melanie M. Wall,J. M. Wallis,M. N. Whiteley,M. N. Whiteley,Dave Willey,L. Williams,Scott M. Williams,H. Williamson,H. Williamson,T. E. Wilmer,Laurens G. Wilming,Charmain L. Wright,Tim Hubbard,David R. Bentley,Stephan Beck,Jane Rogers,Shinsei Minoshima,Kazuhiko Kawasaki,Takashi Sasaki,Shuichi Asakawa,Jun Kudoh,Ai Shintani,Kazunori Shibuya,Y. Yoshizaki,Noriaki Aoki,Susumu Mitsuyama,Feng Chen,L. Chu,Judy S. Crabtree,Stéphane Deschamps,A. Do,T. Do,Angela Dorman,F. Fang,Y. Fu,P. Hu,Axin Hua,Steve Kenton,Hongshing Lai,H. I. Lao,Jennifer Lewis,S. Lewis,Shaoping Lin,P. Loh,Eda Malaj,T. Nguyen,Huaqin Pan,S. Phan,S. Qi,Y. Qian,L. Ray,Q. Ren,S. Shaull,D. Sloan,L. Song,Q. Wang,Yuhang Wang,Z. Wang,Jim White,D. Willingham,H. Wu,Ziyun Yao,M. Zhan,Genwei Zhang,Joseph A. Murray,N. Miller,Patrick Minx,Robert S. Fulton,David W. Johnson,G. Bemis,David Bentley,H. Bradshaw,S. Bourne,Matt Cordes,Zijin Du,Lucinda Fulton,D. Goela,Tina Graves,J. Hawkins,K. Hinds,K. Kemp,Phil Latreille,Dan Layman,Philip Ozersky,Tracy Rohlfing,Paul Scheet,C. Walker,A. Wamsley,Patricia Wohldmann,Kymberlie H. Pepin,Joanne O. Nelson,Ian F Korf,Joseph A. Bedell,LaDeana W. Hillier,Elaine R. Mardis,Robert H. Waterston,Richard K. Wilson,Beverly S. Emanuel,Tamim H. Shaikh,Hiroki Kurahashi,Sulagna C. Saitta,M. L. Budarf,Heather E. McDermid,Alexander Johnson,A. C.C. Wong,Bernice E. Morrow,Lisa Edelmann,U. J. Kim,Hiroaki Shizuya,Melvin I. Simon,Jan P. Dumanski,Myriam Peyrard,Darek Kedra,Eyal Seroussi,Ingegerd Fransson,I. Tapia,Carl E.G. Bruder,K. P. O'Brien +223 more
TL;DR: The sequence of the euchromatic part of human chromosome 22 is reported, which consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.
Journal ArticleDOI
A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region.
Deborah J. Smyth,Jason D. Cooper,Rebecca Bailey,Sarah F. Field,Oliver S. Burren,Luc J. Smink,Cristian Guja,Constantin Ionescu-Tirgoviste,Barry Widmer,David B. Dunger,David A. Savage,Neil Walker,David Clayton,John A. Todd +13 more
TL;DR: Convincing statistical support for a sixth type 1 diabetes (T1D) locus in the innate immunity viral RNA receptor gene region IFIH1 on chromosome 2q24 is reported.
Journal ArticleDOI
Population structure, differential bias and genomic control in a large-scale, case-control association study.
David Clayton,Neil Walker,Deborah J. Smyth,Rebecca Pask,Jason D. Cooper,Lisa M. Maier,Luc J. Smink,Alex C. Lam,Nigel R. Ovington,Helen Stevens,Sarah Nutland,Joanna M. M. Howson,Malek Faham,Martin Moorhead,Hywel B. Jones,Matthew Falkowski,Paul Hardenbol,Thomas D. Willis,John A. Todd +18 more
TL;DR: To avoid excluding SNPs and losing valuable information, the genomic control method is extended by applying a variable downweighting to each SNP, which explains part of the significant +11.2% inflation of test statistics the authors observed in an analysis of 6,322 nonsynonymous SNPs.