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Journal ArticleDOI

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24

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TLDR
Using a multistage genetic association approach comprising 7,480 affected individuals and 7,779 controls, markers in chromosomal region 8q24 associated with colorectal cancer were identified and this locus has been implicated in prostate cancer.
Abstract
Using a multistage genetic association approach comprising 7,480 affected individuals and 7,779 controls, we identified markers in chromosomal region 8q24 associated with colorectal cancer. In stage 1, we genotyped 99,632 SNPs in 1,257 affected individuals and 1,336 controls from Ontario. In stages 2-4, we performed serial replication studies using 4,024 affected individuals and 4,042 controls from Seattle, Newfoundland and Scotland. We identified one locus on chromosome 8q24 and another on 9p24 having combined odds ratios (OR) for stages 1-4 of 1.18 (trend; P = 1.41 x 10(-8)) and 1.14 (trend; P = 1.32 x 10(-5)), respectively. Additional analyses in 2,199 affected individuals and 2,401 controls from France and Europe supported the association at the 8q24 locus (OR = 1.16, trend; 95% confidence interval (c.i.): 1.07-1.26; P = 5.05 x 10(-4)). A summary across all seven studies at the 8q24 locus was highly significant (OR = 1.17, c.i.: 1.12-1.23; P = 3.16 x 10(-11)). This locus has also been implicated in prostate cancer.

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Journal ArticleDOI

Molecular Basis of Colorectal Cancer

TL;DR: This review gives an account of recent advances in the authors' knowledge of the molecular mechanisms in colorectal cancer.
Journal ArticleDOI

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

Paul Burton, +224 more
- 01 Nov 2007 - 
TL;DR: In this paper, the authors report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirm the previously reported association of AITD with TSHR and FCRL3.
Journal ArticleDOI

Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray

TL;DR: 6% of the array probes can potentially generate spurious signals because of co-hybridization to alternate genomic sequences highly homologous to the intended targets, which could lead investigators to mistakenly infer the existence of significant autosomal sex-associated methylation.
Journal ArticleDOI

Linkage disequilibrium -understanding the evolutionary past and mapping the medical future

TL;DR: The linkage disequilibrium process, the nonrandom association of alleles at different loci, and the population genetic processes that affect it are reviewed.
Journal ArticleDOI

Uncovering the roles of rare variants in common disease through whole-genome sequencing

TL;DR: The evidence for an important role of rare gene variants of major effect in common diseases is evaluated and discovery strategies for their identification are outlined.
References
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Journal ArticleDOI

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Journal ArticleDOI

From genotypes to genes: doubling the sample size.

Peter Sasieni
- 01 Dec 1997 - 
TL;DR: This paper considers the analysis of genetic case-control data and recommends that analyses that treat alleles rather than people as observations should not be used, and that such data should be analyzed by genotype.
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