title: A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.
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.
  
  
  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.
authors.affiliation: Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, PA 19104-4318, USA. hakonarson@chop.edu
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
authors.forename: Hui-Qi
authors.initials: HQ
authors.lastname: Qu
authors.forename: Jonathan P
authors.initials: JP
authors.lastname: Bradfield
authors.forename: Luc
authors.initials: L
authors.lastname: Marchand
authors.forename: Cecilia E
authors.initials: CE
authors.lastname: Kim
authors.forename: Joseph T
authors.initials: JT
authors.lastname: Glessner
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Grabs
authors.forename: Tracy
authors.initials: T
authors.lastname: Casalunovo
authors.forename: Shayne P
authors.initials: SP
authors.lastname: Taback
authors.forename: Edward C
authors.initials: EC
authors.lastname: Frackelton
authors.forename: Andrew W
authors.initials: AW
authors.lastname: Eckert
authors.forename: Kiran
authors.initials: K
authors.lastname: Annaiah
authors.forename: Margaret L
authors.initials: ML
authors.lastname: Lawson
authors.forename: F George
authors.initials: FG
authors.lastname: Otieno
authors.forename: Erin
authors.initials: E
authors.lastname: Santa
authors.forename: Julie L
authors.initials: JL
authors.lastname: Shaner
authors.forename: Ryan M
authors.initials: RM
authors.lastname: Smith
authors.forename: Chioma C
authors.initials: CC
authors.lastname: Onyiah
authors.forename: Robert
authors.initials: R
authors.lastname: Skraban
authors.forename: Rosetta M
authors.initials: RM
authors.lastname: Chiavacci
authors.forename: Luke J
authors.initials: LJ
authors.lastname: Robinson
authors.forename: Charles A
authors.initials: CA
authors.lastname: Stanley
authors.forename: Susan E
authors.initials: SE
authors.lastname: Kirsch
authors.forename: Marcella
authors.initials: M
authors.lastname: Devoto
authors.forename: Dimitri S
authors.initials: DS
authors.lastname: Monos
authors.forename: Struan F A
authors.initials: SF
authors.lastname: Grant
authors.forename: Constantin
authors.initials: C
authors.lastname: Polychronakos
mesh_terms: D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D002896:Chromosomes, Human, Pair 6; D015331:Cohort Studies; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006681:HLA-D Antigens / Q000235:genetics; D006801:Humans; D018570:Risk Assessment
chemical_list: D006681:HLA-D Antigens