Cooper Jason D, Smyth Deborah J, Smiles Adam M, Plagnol Vincent, Walker Neil M, Allen James E, Downes Kate, Barrett Jeffrey C, Healy Barry C, Mychaleckyj Josyf C, Warram James H, Todd John A
Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Nat Genet. 2008 Dec;40(12):1399-401. doi: 10.1038/ng.249. Epub 2008 Nov 2.
We carried out a meta-analysis of data from three genome-wide association (GWA) studies of type 1 diabetes (T1D), testing 305,090 SNPs in 3,561 T1D cases and 4,646 controls of European ancestry. We obtained further support for 4q27 (IL2-IL21, P = 1.9 x 10(-8)) and, after genotyping an additional 6,225 cases, 6,946 controls and 2,828 families, convincing evidence for four previously unknown and distinct risk loci in chromosome regions 6q15 (BACH2, P = 4.7 x 10(-12)), 10p15 (PRKCQ, P = 3.7 x 10(-9)), 15q24 (CTSH, P = 3.2 x 10(-15)) and 22q13 (C1QTNF6, P = 2.0 x 10(-8)).
我们对三项1型糖尿病（T1D）全基因组关联（GWA）研究的数据进行了荟萃分析，在3561例T1D病例和4646例欧洲血统对照中检测了305,090个单核苷酸多态性（SNP）。我们为4q27（IL2 - IL21，P = 1.9×10⁻⁸）获得了进一步支持，并且在对另外6225例病例、6946例对照和2828个家系进行基因分型后，为6号染色体区域6q15（BACH2，P = 4.7×10⁻¹²）、10号染色体区域10p15（PRKCQ，P = 3.7×10⁻⁹）、15号染色体区域15q24（CTSH，P = 3.2×10⁻¹⁵）和22号染色体区域22q13（C1QTNF6，P = 2.0×10⁻⁸）中四个先前未知且不同的风险位点获得了确凿证据。
