Miniatura

Fitxers

644882.pdf (541.38 KB)

Tipus de document

Article

Versió

Versió publicada

Data de publicació

2014-06-30

Llicència de publicació

cc-by (c) Real, Luis M. et al., 2014
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/122303

A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis

Títol de la revista

Autors

Director/Tutor

ISSN de la revista

Títol del volum

Recurs relacionat

https://doi.org/10.1371/journal.pone.0101178

Resum

BACKGROUND: Non-hereditary colorectal cancer (CRC) is a complex disorder resulting from the combination of genetic and non-genetic factors. Genome-wide association studies (GWAS) are useful for identifying such genetic susceptibility factors. However, the single loci so far associated with CRC only represent a fraction of the genetic risk for CRC development in the general population. Therefore, many other genetic risk variants alone and in combination must still remain to be discovered. The aim of this work was to search for genetic risk factors for CRC, by performing single-locus and two-locus GWAS in the Spanish population. RESULTS: A total of 801 controls and 500 CRC cases were included in the discovery GWAS dataset. 77 single nucleotide polymorphisms (SNP)s from single-locus and 243 SNPs from two-locus association analyses were selected for replication in 423 additional CRC cases and 1382 controls. In the meta-analysis, one SNP, rs3987 at 4q26, reached GWAS significant p-value (p = 4.02×10(-8)), and one SNP pair, rs1100508 CG and rs8111948 AA, showed a trend for two-locus association (p = 4.35×10(-11)). Additionally, our GWAS confirmed the previously reported association with CRC of five SNPs located at 3q36.2 (rs10936599), 8q24 (rs10505477), 8q24.21(rs6983267), 11q13.4 (rs3824999) and 14q22.2 (rs4444235). CONCLUSIONS: Our GWAS for CRC patients from Spain confirmed some previously reported associations for CRC and yielded a novel candidate risk SNP, located at 4q26. Epistasis analyses also yielded several novel candidate susceptibility pairs that need to be validated in independent analyses.

Matèries

Càncer colorectal, Genètica molecular, Herència humana, Espanya, Estudi de casos

Matèries (anglès)

Colorectal cancer, Molecular genetics, Heredity in humans, Spain, Case studies

Citació

Col·leccions

Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Citació

REAL, Luis m., RUIZ, Agustín, GAYÁN, Javier, GONZÁLEZ-PÉREZ, Antonio, SÁEZ, María e., RAMÍREZ-LORCA, Reposo, MORÓN, Francisco j., VELASCO, Juan, MARGINET-FLINCH, Ruth, CARRASCO, José maría, MORENO-REY, Concha, VÁZQUEZ, Enrique, CHAVES-CONDE, Manuel, MORENO-NOGUEIRA, Jose a., HIDALGO-PASCUAL, Manuel, FERRERO-HERRERO, Eduardo, CASTELLVÍ BEL, Sergi, CASTELLS GARANGOU, Antoni, FERNANDEZ-ROZADILLA, Ceres, RUIZ-PONTE, Clara, CARRACEDO ÁLVAREZ, Ángel, GONZÁLEZ NAVARRO, Beatriz, ALONSO, Sergio, PERUCHO, Manuel. A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis. _PLoS One_. 2014. Vol. 9, núm. 6, pàgs. e101178. [consulta: 21 de gener de 2026]. ISSN: 1932-6203. [Disponible a: https://hdl.handle.net/2445/122303]

Exportar metadades

JSON - METS

Compartir registre