Literature DB >> 18198356

A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.

Hakon Hakonarson1, Hui-Qi Qu, Jonathan P Bradfield, Luc Marchand, Cecilia E Kim, Joseph T Glessner, Rosemarie Grabs, Tracy Casalunovo, Shayne P Taback, Edward C Frackelton, Andrew W Eckert, Kiran Annaiah, Margaret L Lawson, F George Otieno, Erin Santa, Julie L Shaner, Ryan M Smith, Chioma C Onyiah, Robert Skraban, Rosetta M Chiavacci, Luke J Robinson, Charles A Stanley, Susan E Kirsch, Marcella Devoto, Dimitri S Monos, Struan F A Grant, Constantin Polychronakos.   

Abstract

OBJECTIVE: In stage 1 of our genome-wide association (GWA) study for type 1 diabetes, one locus at 16p13 was detected (P = 1.03 x 10(-10)) and confirmed in two additional cohorts. Here we describe the results of testing, in these additional cohorts, 23 loci that were next in rank of statistical significance. RESEARCH DESIGN AND METHODS: Two independent cohorts were studied. The Type 1 Diabetes Genetics Consortium replication cohort consisted of 549 families with at least one child diagnosed with diabetes (946 total affected) and DNA from both parents. The Canadian replication cohort consisted of 364 nuclear family trios with one type 1 diabetes-affected offspring and two parents (1,092 individuals).
RESULTS: One locus at 12q13, with the highest statistical significance among the 23, was confirmed. It involves type 1 diabetes association with the minor allele of rs1701704 (P = 9.13 x 10(-10), OR 1.25 [95% CI 1.12-1.40]).
CONCLUSIONS: We have discovered a type 1 diabetes locus at 12q13 that is replicated in an independent cohort of type 1 diabetic patients and confers a type 1 diabetes risk comparable with that of the 16p13 locus we recently reported. These two loci are identical to two loci identified by the whole-genome association study of the Wellcome Trust Case-Control Consortium, a parallel independent discovery that adds further support to the validity of the GWA approach.

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Year:  2008        PMID: 18198356     DOI: 10.2337/db07-1305

Source DB:  PubMed          Journal:  Diabetes        ISSN: 0012-1797            Impact factor:   9.461


  71 in total

1.  Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population.

Authors:  M V Prasad Linga Reddy; H Wang; S Liu; B Bode; J C Reed; R D Steed; S W Anderson; L Steed; D Hopkins; J-X She
Journal:  Genes Immun       Date:  2011-01-27       Impact factor: 2.676

Review 2.  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

3.  Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.

Authors:  Amy Murphy; Jen-Hwa Chu; Mousheng Xu; Vincent J Carey; Ross Lazarus; Andy Liu; Stanley J Szefler; Robert Strunk; Karen Demuth; Mario Castro; Nadia N Hansel; Gregory B Diette; Becky M Vonakis; N Franklin Adkinson; Barbara J Klanderman; Jody Senter-Sylvia; John Ziniti; Christoph Lange; Tomi Pastinen; Benjamin A Raby
Journal:  Hum Mol Genet       Date:  2010-09-10       Impact factor: 6.150

4.  Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci.

Authors:  Michael L Stitzel; Praveen Sethupathy; Daniel S Pearson; Peter S Chines; Lingyun Song; Michael R Erdos; Ryan Welch; Stephen C J Parker; Alan P Boyle; Laura J Scott; Elliott H Margulies; Michael Boehnke; Terrence S Furey; Gregory E Crawford; Francis S Collins
Journal:  Cell Metab       Date:  2010-11-03       Impact factor: 27.287

Review 5.  Detecting shared pathogenesis from the shared genetics of immune-related diseases.

Authors:  Alexandra Zhernakova; Cleo C van Diemen; Cisca Wijmenga
Journal:  Nat Rev Genet       Date:  2009-01       Impact factor: 53.242

Review 6.  Genome-wide association studies in type 1 diabetes.

Authors:  Struan F A Grant; Hakon Hakonarson
Journal:  Curr Diab Rep       Date:  2009-04       Impact factor: 4.810

Review 7.  From markers to molecular mechanisms: type 1 diabetes in the post-GWAS era.

Authors:  Alan G Baxter; Margaret A Jordan
Journal:  Rev Diabet Stud       Date:  2012-12-28

Review 8.  Molecular mechanisms in autoimmune type 1 diabetes: a critical review.

Authors:  Zhiguo Xie; Christopher Chang; Zhiguang Zhou
Journal:  Clin Rev Allergy Immunol       Date:  2014-10       Impact factor: 8.667

Review 9.  Autoimmune diseases: insights from genome-wide association studies.

Authors:  Guillaume Lettre; John D Rioux
Journal:  Hum Mol Genet       Date:  2008-10-15       Impact factor: 6.150

10.  Rfx6 directs islet formation and insulin production in mice and humans.

Authors:  Stuart B Smith; Hui-Qi Qu; Nadine Taleb; Nina Y Kishimoto; David W Scheel; Yang Lu; Ann-Marie Patch; Rosemary Grabs; Juehu Wang; Francis C Lynn; Takeshi Miyatsuka; John Mitchell; Rina Seerke; Julie Désir; Serge Vanden Eijnden; Marc Abramowicz; Nadine Kacet; Jacques Weill; Marie-Eve Renard; Mattia Gentile; Inger Hansen; Ken Dewar; Andrew T Hattersley; Rennian Wang; Maria E Wilson; Jeffrey D Johnson; Constantin Polychronakos; Michael S German
Journal:  Nature       Date:  2010-02-11       Impact factor: 49.962

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