The association of a genetic variant in CDKN2A/B gene and the risk of colorectal cancer

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Farzad Rahmani
Amir Avan
Forouzan Amerizadeh
Gordon A. Ferns
Sahar Talebian
Soodabeh Shahidsales


Colorectal cancer is among the most aggressive tumors, and its development involves an interplay between various genetic and environmental familial risk factors. Several genetic polymorphisms have been reported to be associated with colorectal cancer in recent studies. In this current study, we aimed to evaluate the possible relationship between a CDKN2A/B, single nucleotide polymorphisms (SNP) (rs10811661), with the risk of colorectal cancer. A total of 541 individuals with, or without cancer were recruited. DNA was extracted, and genotyped using a Taq-Man based real‐time PCR method. The rs10811661 SNP was associated with an increased risk of colorectal cancer (additive model: OR=3.46, CI= 1.79-6.69, p<0.0001 and recessive model: 5.72, CI= 3.12-10.49, p<0.0001). The distribution of minor alleles in the total population for homozygote allele was 9.2 %, while this was 20.1 % for heterozygotes. In summary, our findings indicate that the rs10811661 polymorphism of the CDKN2A/B gene was strongly related to the occurrence of colorectal cancer suggesting its potential role as a prognostic biomarker for the management of colorectal cancer.

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Rahmani, F., Avan, A., Amerizadeh, F., Ferns, G. A., Talebian, S., & Shahidsales, S. (2020). The association of a genetic variant in CDKN2A/B gene and the risk of colorectal cancer. EXCLI Journal, 19, 1316-1321.
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