Egyptian Journal of Medical Human Genetics (Feb 2022)

Association of CHEK2 I157T and SULT1A1 R213H genetic variants with risk of sporadic colorectal cancer in a sample of Egyptian patients

  • Ghada M. Elhady,
  • Mostafa A. Elnaggar,
  • Lubna M. Desouky

DOI
https://doi.org/10.1186/s43042-022-00238-4
Journal volume & issue
Vol. 23, no. 1
pp. 1 – 8

Abstract

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Abstract Background Recent research proposed an association between functional defects involving CHEK2 I157T and SULT1A1 R213H variants and increased incidence of several types of cancer. A total of 86 unrelated colorectal cancer patients attending the Surgical Oncology Department were recruited in the study. The second group of 152 healthy age- and sex-matched volunteers were included as controls. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was applied for genotyping. Chi-square test was applied to compare genotype and allele frequencies in the studied groups. The purpose of the present study was to evaluate the association between CHEK2 I157T and SULT1A1 R213H polymorphisms and colorectal cancer. Results No significant differences in genotypes were detected between cases and controls in the present study for both CHEK2 I157T and SULT1A1 R213H polymorphisms (χ 2 = 1.839; P = 0.399/χ 2 = 2.831; P = 0.243), respectively. Likewise, discrepancies in allele frequency for the wild-type or mutant alleles were non-statistically significant in CHEK2 I157T and SULT1A1 R213H (χ 2 = 1.231; P = 0.267/χ 2 = 0.180; P = 0.671), respectively. Conclusions Results of the current study propose that CHEK2 I157T and SULT1A1 R213H polymorphisms are not associated with CRC development in Egyptian population. Further future studies on the functional implications of these polymorphisms are strongly recommended.

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