Characterisation of IGF-1 (rs7136446) and IL-6 (rs1800795) polymorphisms among breast cancer patients in western Algeria

Pol J Pathol. 2024;75(3):205-214. doi: 10.5114/pjp.2024.143230.

Abstract

Breast cancer (BC) is the most frequently diagnosed cancer among women worldwide, including Algeria. Certain single nucleotide polymorphisms (SNPs) have been linked to higher risk of BC. Several studies have been performed on the insulin- like growth factor 1 (IGF-1) T > C (rs7136446) and the interleukin 6 (IL-6) 174 G > C (rs1800795) SNPs to explore their role in BC. The aim of this study is to investigate the association between the 2 SNPs, IL-6 (rs1800795) and IGF-1 (rs7136446) with BC in the population of western Algeria. This study was carried out for the first time among the Algerian population. This case-control study included 109 BC patients and 112 healthy controls. Genomic DNA was extracted from peripheral blood samples. DNA concentration was determined using the Qubit 2.0 fluorometer. The genotyping of selected SNPs was performed by real-time polymerase chain reaction followed by statistical analysis to assess genotypic frequencies and genetic association with BC. The results showed that IGF-1 rs7136446 was positively associated with BC (p = 0.00001) and that the distribution of genotype frequencies of rs7136446 showed a statistically difference between human epidermal growth factor receptor 2 (HER-2) positive and HER-2 negative BC (p = 0.04), but this association did not last after the correction of Bonferroni. No association was found in genotype distribution of the IL-6 (rs1800795) among controls and BC patients or with clinicopathological parameters including HER-2 status in BC (p > 0.05). In summary, our findings indicate that IGF-1 rs7136446 is associated with BC in our population of western Algeria.

Keywords: human epidermal growth factor receptor 2 (HER-2); insulin-like growth factor 1 (IGF-1); interleukin 6 (IL-6); single nucleotide polymorphisms (SNPs); western Algeria.; breast cancer (BC).

MeSH terms

  • Adult
  • Aged
  • Algeria
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / pathology
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Insulin-Like Growth Factor I* / genetics
  • Interleukin-6* / genetics
  • Middle Aged
  • Polymorphism, Single Nucleotide*

Substances

  • Insulin-Like Growth Factor I
  • Interleukin-6
  • IGF1 protein, human
  • IL6 protein, human