Contribution of Genetic Variants of ABC Transporters (ABCC1 and ABCG2) Genes With the Pathogenesis of Colorectal Cancer

Huda A. Al-Doghaither¹and Ayat B. Al-Ghafari^1,2,3,4

¹Biochemistry Department, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.

²Cancer Metabolism and Epigenetics Unit, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.

³Experimental Biochemistry Unit, King Fahd Medical Research Centre, King Abdulaziz University, Jeddah, Saudi Arabia.

⁴Cancer and Mutagenesis Unit, King Fahd Medical Research Centre, King Abdulaziz University, Jeddah, Saudi Arabia.

Corresponding Author E-mail: abalghafari@kau.edu.sa

DOI : http://dx.doi.org/10.13005/bbra/2661

ABSTRACT: Colorectal cancer (CRC) is one of the major cancers that is characterized with high percentage of morbidity worldwide due to the advanced metastatic cancer that developed via acquired drug resistance mechanisms. Therefore, there is an urgent need to identify genetic variants in major genes that could contribute to the poor overall survival rate and drug-resistance. ATP-binding cassette (ABC) transporters are among the most studied genes that are related to the development of many cancers including CRC. In this study, three variants namely (G2168A and G3173A) in ABCC1 and (C421A) in ABCG2 were examined to evaluate their contribution to CRC in Saudi Arabia. DNA was extracted from the whole blood of 62 CRC patients and 100 controls. PCR-RFLP technique was used to identify the different genotypes among Saudi population. All statistical data were obtained by chi-square test and P values ˂0.05 were considered statistically significant. Interestingly, neither of the tested variants showed heterozygous nor homozygous distribution among the 162 samples. Therefore, those variants are rare in Saudi population and are not suspected to be involved in CRC pathogenesis. In conclusion, those variants cannot be used as diagnostic or prognostic markers for CRC in Saudi Arabia. However, more experiments need to be performed to confirm our findings.

KEYWORDS: Colorectal Cancer (CRC); Development Risk; Saudi Arabia; Single Nucleotide Polymorphisms (Snps)

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