Journal
HUMAN GENETICS
Volume 133, Issue 5, Pages 525-534Publisher
SPRINGER
DOI: 10.1007/s00439-013-1390-4
Keywords
-
Categories
Funding
- Fondo de Investigacion Sanitaria/FEDER [08/1276, 08/0024, PS09/02368, 11/00219, 11/00681]
- Instituto de Salud Carlos III (Accion Transversal de Cancer)
- Xunta de Galicia [PGIDIT07PXIB9101209PR]
- Ministerio de Ciencia e Innovacion [SAF 07-64873, SAF 2010-19273]
- Fundacion Privada Olga Torres
- Asociacion Espanola contra el Cancer (Fundacion Cientifica y Junta de Barcelona)
- FP7 CHIBCHA Consortium
- COST office through COST action [BM1206]
- Fondo de Investigacion Sanitaria [PS09/02368, CP 03-0070, CP06/0267, PI12/00056]
- Fundacion Mutua Madrilena
- Fundacion Ramon Areces
- Wellcome Trust Core Award [075491/Z/04]
- Cancer Research UK [16459] Funding Source: researchfish
Ask authors/readers for more resources
Colorectal cancer (CRC) is a complex disease, and therefore its development is determined by the combination of both environmental factors and genetic variants. Although genome-wide association studies (GWAS) of SNP variation have conveniently identified 20 genetic variants so far, a significant proportion of the observed heritability is yet to be explained. Common copy-number variants (CNVs) are one of the most important genomic sources of variability, and hence a potential source to explain part of this missing genetic fraction. Therefore, we have performed a GWAS on CNVs to explore the relationship between common structural variation and CRC development. Phase 1 of the GWAS consisted of 881 cases and 667 controls from a Spanish cohort. Copy-number status was validated by quantitative PCR for each of those common CNVs potentially associated with CRC in phase I. Subsequently, SNPs were chosen as proxies for the validated CNVs for phase II replication (1,342 Spanish cases and 1,874 Spanish controls). Four common CNVs were found to be associated with CRC and were further replicated in Phase II. Finally, we found that SNP rs1944682, tagging a 11q11 CNV, was nominally associated with CRC susceptibility (p value = 0.039; OR = 1.122). This locus has been previously related to extreme obesity phenotypes, which could suggest a relationship between body weight and CRC susceptibility.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available