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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Alanine to Serine Variant at Position 986 of Calcium Sensing Receptor and Colorectal Cancer Risk
Reza Dabiri1, Touraj Mahmoudi2, Hamid Farahani3
1Internal Medicine Department, Semnan University of Medical Sciences, Semnan, IR Iran.
This study found no link between the calcium-sensing receptor (CaSR) gene A986S variant and colorectal cancer (CRC) risk. Further research is needed to confirm these findings on CRC susceptibility.
Area of Science:
- Genetics and Cancer Research
- Molecular Biology
- Epidemiology
Background:
- Calcium plays a role in colorectal cancer (CRC) prevention.
- The calcium-sensing receptor (CaSR) is crucial for calcium homeostasis.
- The CaSR gene A986S variant (rs1801725) was investigated for its potential association with CRC risk.
Purpose of the Study:
- To investigate the association between the CaSR gene A986S variant and susceptibility to colorectal cancer (CRC).
Main Methods:
- A case-control study design was employed.
- 303 CRC cases and 354 controls were included.
- Genotyping for the CaSR gene A986S variant was performed using the PCR-RFLP method.
Main Results:
- No significant differences in genotype or allele frequencies of the CaSR A986S variant were found between CRC cases and controls.
- These results remained non-significant after adjusting for age, BMI, sex, smoking status, and family history.
- No evidence of effect modification by BMI, sex, or tumor site was observed, nor a significant association with obesity risk.
Conclusions:
- The study does not support a role for the CaSR gene A986S variant in colorectal cancer risk.
- Further confirmation and investigation into the role of this gene variant in carcinogenesis are warranted.
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