• Ayat Badr Al-Ghafari.
• Ayat Badr Al-Ghafari, a) Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia. b) Experimental Biochemistry Unit, c) Cancer and Mutagenesis Unit, King Fahd Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia.
• Pak J Med Sci. 2019 Mar 1; 35 (2): 448-453.

ObjectivesTo determine the role of two genetic variants, (rs3804594) and (rs1801725), in calcium sensing receptor (CASR) gene with colorectal cancer (CRC) risk in patients visited King Abdulaziz University hospital (KAUH) in Jeddah, Saudi Arabia.MethodsGenomic DNA was extracted, by commercial DNA extraction kit, from whole blood of 100 CRC patients and 124 controls who visited KAUH from January 2016 to September 2016. Then genotype and allele distributions of both variants were determined by PCR-RFLP and DNA sequencing techniques. All statistical analyses were performed by unpaired t-test and P-values <0.05 were considered statistically significant.ResultsData obtained from χ2 test showed that intron 4 variant in CASR gene was distributed 100% normally in the 224 participants, however, exon 7 variant showed 100% homozygous distribution in the controls; whereas, in CRC patients it was distributed equally into 50% heterozygous and 50% homozygous with no detection for wild type.ConclusionIntron 4 variant (rs3804594) in CASR gene is not correlated to CRC risk. However, more investigations are needed to elucidate the role of CASR gene exon 7 (rs1801725) variant in CRC development as the current results are not definitive.

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