Background: Breast cancer (BC) is the most common cancer in women and the second leading cause of cancer-related deaths among women worldwide. Single nucleotide polymorphisms (SNPs) in cytokine genes have been shown to alter their expressions or functions in patients with BC. In recent years, the molecular structure and function of IL-1 have been studied. Its genetic polymorphism could affect the transcription and expression of the IL-1 gene. Moreover, it is closely related to several diseases. This fact and plethora of gene polymorphism data prompted us to investigate the relationship between IL-1 polymorphisms and IL-1 protein expression in Chinese Han BC patients.
Method: In total, 298 patients with BC and 287 healthy control women were studied. The genetic polymorphisms for IL-1 were analyzed by the MassARRAY sequencing method. Tumor markers and IL-1β levels were measured by electrochemiluminescence and ELISA, respectively. All gene selection GRCh38 version.
Results: The rs1143623 (NC_000002.12:g.112838252C>G) (GC), rs16944 (NC_000002.12:g.112837290A>G)(AG), and rs10490571 (NC_000002.12:g.102100877C>T) (CC) SNPs were found to be significantly lower in the BC group than in the controls. The variant G/C genotype of rs1143623 was associated with a significantly increased risk for BC (OR = 2.34, p < 0.05). The alleles for rs16944 (A/G; OR = 3.15, p < 0.05) and rs10490571 (T/C; OR = 2.48, p < 0.05) were also significantly associated with BC. Moreover, the genotypes of rs1143623, rs16944, and rs10490571 were significantly correlated with serum IL-1β levels and other tumor markers.
Conclusion: Our data reveal the association between genetic polymorphisms of IL-1 and BC susceptibility in the Chinese Han population and indicates that IL-1 polymorphisms are closely associated with tumor markers and IL-1β protein expression in BC patients.
Keywords: IL-1; IL-1β; PCR-RFLP; breast cancer; gene polymorphisms; tumor markers.
© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.