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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
This study has demonstrated that careful use of a shared control group represents a safe and effective approach to GWA analyses of multiple disease phenotypes; generated a genome-wide genotype database for future studies of common diseases in the British population; and shown that, provided individuals with non-European ancestry are excluded, the extent of population stratification in theBritish population is generally modest. Expand
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
Genes and mechanisms involved in common complex diseases, such as the autoimmune disorders that affect approximately 5% of the population, remain obscure. Here we identify polymorphisms of theExpand
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
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. Expand
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the action of multiple genetic and environmental risk factors. We report the findings of a genome-wide association study of T1D,Expand
A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region
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. Expand
Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes
This work resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants to establish the role of IFIH1 and demonstrate that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs. Expand
Genome-wide association studies: theoretical and practical concerns
The main factors — including models of the allelic architecture of common diseases, sample size, map density and sample-collection biases — that need to be taken into account in order to optimize the cost efficiency of identifying genuine disease-susceptibility loci are outlined. Expand
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC
The analysis provides informative tag SNPs that capture much of the common variation in the MHC region and that could be used in disease association studies, and it provides new insight into the evolutionary dynamics and ancestral origins of the HLA loci and their haplotypes. Expand
Common genetic determinants of vitamin D insufficiency: a genome-wide association study
Variants near genes involved in cholesterol synthesis, hydroxylation, and vitamin D transport affect vitamin D status, and genetic variation at these loci identifies individuals who have substantially raised risk of vitamin D insufficiency. Expand
Haplotype tagging for the identification of common disease genes
This work shows how knowledge of the common haplotypes and the SNPs that tag them can be used to explain the often complex patterns of LD between adjacent markers and provide key fine-mapping data within regions of strong LD. Expand