Literature DB >> 15776395

Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms.

Adrian Vella1, Jason D Cooper, Christopher E Lowe, Neil Walker, Sarah Nutland, Barry Widmer, Richard Jones, Susan M Ring, Wendy McArdle, Marcus E Pembrey, David P Strachan, David B Dunger, Rebecca C J Twells, David G Clayton, John A Todd.   

Abstract

As part of an ongoing search for genes associated with type 1 diabetes (T1D), a common autoimmune disease, we tested the biological candidate gene IL2RA (CD25), which encodes a subunit (IL-2R alpha) of the high-affinity interleukin-2 (IL-2) receptor complex. We employed a tag single-nucleotide polymorphism (tag SNP) approach in large T1D sample collections consisting of 7,457 cases and controls and 725 multiplex families. Tag SNPs were analyzed using a multilocus test to provide a regional test for association. We found strong statistical evidence in the case-control collection (P=6.5x10(-8)) for a T1D locus in the CD25 region of chromosome 10p15 and replicated the association in the family collection (P=7.3x10(-3); combined P=1.3x10(-10)). These results illustrate the utility of tag SNPs in a chromosome-regional test of disease association and justify future fine mapping of the causal variant in the region.

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Year:  2005        PMID: 15776395      PMCID: PMC1199367          DOI: 10.1086/429843

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  34 in total

1.  Parameters for reliable results in genetic association studies in common disease.

Authors:  Ingrid Dahlman; Iain A Eaves; Roman Kosoy; V Anne Morrison; Joanne Heward; Stephen C L Gough; Amit Allahabadia; Jayne A Franklyn; Jaakko Tuomilehto; Eva Tuomilehto-Wolf; Francesco Cucca; Cristian Guja; Constantin Ionescu-Tirgoviste; Helen Stevens; Philippa Carr; Sarah Nutland; Patricia McKinney; Julian P Shield; William Wang; Heather J Cordell; Neil Walker; John A Todd; Patrick Concannon
Journal:  Nat Genet       Date:  2002-01-22       Impact factor: 38.330

2.  Generalized T2 test for genome association studies.

Authors:  Momiao Xiong; Jinying Zhao; Eric Boerwinkle
Journal:  Am J Hum Genet       Date:  2002-03-29       Impact factor: 11.025

Review 3.  Genetic protection from the inflammatory disease type 1 diabetes in humans and animal models.

Authors:  J A Todd; L S Wicker
Journal:  Immunity       Date:  2001-09       Impact factor: 31.745

4.  Haplotype tagging for the identification of common disease genes.

Authors:  G C Johnson; L Esposito; B J Barratt; A N Smith; J Heward; G Di Genova; H Ueda; H J Cordell; I A Eaves; F Dudbridge; R C Twells; F Payne; W Hughes; S Nutland; H Stevens; P Carr; E Tuomilehto-Wolf; J Tuomilehto; S C Gough; D G Clayton; J A Todd
Journal:  Nat Genet       Date:  2001-10       Impact factor: 38.330

Review 5.  Genetic associations in large versus small studies: an empirical assessment.

Authors:  John P A Ioannidis; Thomas A Trikalinos; Evangelia E Ntzani; Despina G Contopoulos-Ioannidis
Journal:  Lancet       Date:  2003-02-15       Impact factor: 79.321

6.  Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease.

Authors:  Kirk E Lohmueller; Celeste L Pearce; Malcolm Pike; Eric S Lander; Joel N Hirschhorn
Journal:  Nat Genet       Date:  2003-01-13       Impact factor: 38.330

7.  B7/CD28 costimulation is essential for the homeostasis of the CD4+CD25+ immunoregulatory T cells that control autoimmune diabetes.

Authors:  B Salomon; D J Lenschow; L Rhee; N Ashourian; B Singh; A Sharpe; J A Bluestone
Journal:  Immunity       Date:  2000-04       Impact factor: 31.745

8.  A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus.

Authors:  G I Bell; S Horita; J H Karam
Journal:  Diabetes       Date:  1984-02       Impact factor: 9.461

9.  The basis for TCR-mediated regulation of the IL-2 receptor alpha chain gene: role of widely separated regulatory elements.

Authors:  Hyoung-Pyo Kim; Warren J Leonard
Journal:  EMBO J       Date:  2002-06-17       Impact factor: 11.598

10.  A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins.

Authors:  F Cucca; R Lampis; M Congia; E Angius; S Nutland; S C Bain; A H Barnett; J A Todd
Journal:  Hum Mol Genet       Date:  2001-09-15       Impact factor: 6.150

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  137 in total

1.  Replication and further characterization of a Type 1 diabetes-associated locus at the telomeric end of the major histocompatibility complex.

Authors:  Erin E Baschal; Suparna A Sarkar; Theresa A Boyle; Janet C Siebert; Jean M Jasinski; Katharine R Grabek; Taylor K Armstrong; Sunanda R Babu; Pamela R Fain; Andrea K Steck; Marian J Rewers; George S Eisenbarth
Journal:  J Diabetes       Date:  2011-09       Impact factor: 4.006

2.  Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis.

Authors:  Marie-Claude Babron; Hervé Perdry; Adam E Handel; Sreeram V Ramagopalan; Vincent Damotte; Bertrand Fontaine; Bertram Müller-Myhsok; George C Ebers; Françoise Clerget-Darpoux
Journal:  Eur J Hum Genet       Date:  2011-11-16       Impact factor: 4.246

Review 3.  Understanding type 1 diabetes through genetics: advances and prospects.

Authors:  Constantin Polychronakos; Quan Li
Journal:  Nat Rev Genet       Date:  2011-10-18       Impact factor: 53.242

4.  Identification of therapeutic targets for quiescent, chemotherapy-resistant human leukemia stem cells.

Authors:  Yoriko Saito; Hiroshi Kitamura; Atsushi Hijikata; Mariko Tomizawa-Murasawa; Satoshi Tanaka; Shinsuke Takagi; Naoyuki Uchida; Nahoko Suzuki; Akiko Sone; Yuho Najima; Hidetoshi Ozawa; Atsushi Wake; Shuichi Taniguchi; Leonard D Shultz; Osamu Ohara; Fumihiko Ishikawa
Journal:  Sci Transl Med       Date:  2010-02-03       Impact factor: 17.956

5.  Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk.

Authors:  María L Cavanillas; Antonio Alcina; Concepción Núñez; Virginia de las Heras; Miguel Fernández-Arquero; Manuel Bartolomé; Emilio G de la Concha; Oscar Fernández; Rafael Arroyo; Fuencisla Matesanz; Elena Urcelay
Journal:  Eur J Hum Genet       Date:  2010-02-24       Impact factor: 4.246

6.  Talin Plays a Critical Role in the Maintenance of the Regulatory T Cell Pool.

Authors:  Jane E Klann; Kelly A Remedios; Stephanie H Kim; Patrick J Metz; Justine Lopez; Lauren A Mack; Ye Zheng; Mark H Ginsberg; Brian G Petrich; John T Chang
Journal:  J Immunol       Date:  2017-05-17       Impact factor: 5.422

7.  Biomarkers for type 1 diabetes.

Authors:  Sharad Purohit; Jin-Xiong She
Journal:  Int J Clin Exp Med       Date:  2008-02-29

8.  Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.

Authors:  Alexandra Zhernakova; Behrooz Z Alizadeh; Marianna Bevova; Miek A van Leeuwen; Marieke J H Coenen; Barbara Franke; Lude Franke; Marcel D Posthumus; David A van Heel; Gerrit van der Steege; Timothy R D J Radstake; Pilar Barrera; Bart O Roep; Bobby P C Koeleman; Cisca Wijmenga
Journal:  Am J Hum Genet       Date:  2007-10-24       Impact factor: 11.025

Review 9.  Beyond regulatory T cells: the potential role for IL-2 to deplete T-follicular helper cells and treat autoimmune diseases.

Authors:  André Ballesteros-Tato
Journal:  Immunotherapy       Date:  2014       Impact factor: 4.196

10.  The type I diabetes association of the IL2RA locus.

Authors:  H-Q Qu; J P Bradfield; A Bélisle; S F A Grant; H Hakonarson; C Polychronakos
Journal:  Genes Immun       Date:  2009-12       Impact factor: 2.676

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