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The association between interleukin-1 polymorphisms and their protein expression in Chinese Han patients with breast

Juan Wang¹, Yonggang Shi¹, Gaochao Wang²

¹Department of Radiation Oncology, Zhengzhou University First Affiliated Hospital, Zhengzhou, Henan Province, People's Republic of China.

Molecular Genetics & Genomic Medicine

|July 13, 2019

Abstract

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

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