Single nucleotide polymorphisms associated with susceptibility for development of colorectal cancer: Case-control study in a Basque population

• DOI: 10.1371/journal.pone.0225779
• Publication Date: 2019-12-10T13:26:32Z
• Authors: Iker Alegria-Lert...; Carmelo Aguirre; Luis Bujanda; Francisco Javier ...; Francisco Polo; José M. Ordovás; M. Carmen Etxezar...; Iñaki Zabalza; Mikel Larzabal; Isabel Portillo; Marian M. de Panc...; Leire Palencia-Ma...; Ana M. Rocandio; Marta Arroyo-Izaga
• Keywords: SNP; Genetic predisposition; Genetic Association

Given the significant population diversity in genetic variation, we aimed to investigate whether single nucleotide polymorphisms (SNPs) previously identified studies of colorectal cancer (CRC) susceptibility were also relevant Basque Country (North Spain). We genotyped 230 CRC cases and healthy controls for 48 reported CRC-susceptibility SNPs. Only rs6687758 DUPS10 exhibited a statistically association with risk based on crude analysis. The AG genotype conferred about 2.13-fold increased compared AA genotype. Moreover, found associations between smoking status, physical activity, SNP. results Genetic Risk Score (GRS) showed that alleles more frequent than score was associated In conclusion, have confirmed locus existence modifiable factors SNP; moreover, GRS CRC. However, further experimental validations are needed establish role this SNP, function gene identified, as well contribution interaction environmental locusto