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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.
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 the…
A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission.
- D. Clayton
- MathematicsAmerican journal of human genetics
- 1 October 1999
A new transmission/disequilibrium-test statistic is proposed for situations in which transmission is uncertain, and the proposed test is a score test based on a partial score function that omits the terms most influenced by hidden population stratification.
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.
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
A genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes, with convincing support for 19 additional T1D-associated loci5–13, all with allelic odds ratios (ORs) of less than 1.3.
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.
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.
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
It is suggested that genotype-phenotype correlations do exist and, if made reliably absolute, could prove useful in the future in clinical management with respect to screening, surveillance, and prophylaxis, as well as provide insight into the genetic effects of particular mutations.
Complement C3 variant and the risk of age-related macular degeneration.
The common functional polymorphism rs2230199 in the C3 gene, corresponding to the electrophoretic variants C3S and C3F, was strongly associated with age-related macular degeneration in both the English group and the Scottish group and underscores the influence of the complement pathway in the pathogenesis of this disease.
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.