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Genetic Predisposition to Cervical Cancer and the Association With XRCC1 and TGFB1 Polymorphisms.

Najla M Al-Harbi1, Sara S Bin Judia, Krishna N Mishra

  • 1*Biomedical Physics, and †National Biotechnology Centre, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society
|September 15, 2017
PubMed
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Genetic variations in TGFB1 T10C and XRCC1 G399A single-nucleotide polymorphisms (SNPs) are linked to cervical carcinoma (CC) risk in Saudi women. These findings may aid in personalized CC prevention strategies.

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Area of Science:

  • Genetics
  • Oncology
  • Epidemiology

Background:

  • Cervical carcinoma (CC) is a multifactorial cancer with a suspected genetic predisposition.
  • Host genetic factors may influence CC susceptibility across diverse populations.

Purpose of the Study:

  • To investigate the association between specific single-nucleotide polymorphisms (SNPs) and CC risk in Saudi women.
  • To identify genetic markers that could predict CC susceptibility.

Main Methods:

  • Genotyping of 6 candidate gene SNPs (CDKN1A, ATM, HDM2, TGFB1, XRCC1, XRCC3) in 545 Saudi females (232 CC patients, 313 controls).
  • Direct sequencing was used for SNP genotyping.
  • Statistical analyses included univariate and multivariate logistic regression, and the Cochran-Armitage trend test.

Main Results:

  • The TGFB1 T10C and XRCC1 G399A SNPs showed statistically significant associations with CC risk.
  • Allele-specific effects and deviations from Hardy-Weinberg equilibrium were observed in CC patients.
  • Multivariate analysis confirmed the significant association of TGFB1 T10C and XRCC1 G399A with CC risk.

Conclusions:

  • TGFB1 T10C and XRCC1 G399A SNPs are associated with cervical carcinoma risk in the Saudi population.
  • Specific alleles (TGFB1 T10 and XRCC1 399A) confer an increased risk of developing CC.
  • Host SNP genotyping could serve as a valuable tool for personalized CC risk assessment and preventive medicine.