Association of rs1946518 C/A Polymorphism in Promoter Region of  Interleukin 18 Gene and Breast Cancer Risk in Iranian Women:  A Case-control Study

Nazila Fathi Maroufi; Elnaz Aghayi; Hamid Garshasbi; Milad  Gholampour Matin; Ahmad  Babazadeh Bedoustani; Fatemeh  Firouzi Amoudizaj; Saba Hajazimian; Alireza Isazadeh; Sina Taefehshokr; Nima Taefehshokr; Behzad Baradaran

doi:10.18502/ijaai.v18i6.2180

Nazila Fathi Maroufi
Elnaz Aghayi
Hamid Garshasbi
Milad Gholampour Matin
Ahmad Babazadeh Bedoustani
Fatemeh Firouzi Amoudizaj
Saba Hajazimian
Alireza Isazadeh
Sina Taefehshokr
Nima Taefehshokr
Behzad Baradaran

DOI: https://doi.org/10.18502/ijaai.v18i6.2180

Keywords: Breast cancer; Interleukin 18; Polymorphism

Abstract

Breast cancer (BC) is the most frequently diagnosed cancer among women in the world. Genetic polymorphisms in Interleukin (IL) genes are one of the most important risk factors in BC. The aim of this study was to investigate the association of rs1946518 C/A polymorphism in the promoter region of the IL-18 gene and BC risk in Iranian women.

In this case-control study, we recruited 140 women with BC as a case group and 140 age and ethnically matched women as healthy controls from East Azerbaijan, Tabriz in Iran. The genomic DNA was extracted using a salting-out method from peripheral blood leukocytes. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

The genotype distribution in BC patients was 37.86% CC, 47.14% CA, and 15.00% AA, whereas in healthy controls these were 40.72% CC, 42.85% CA, and 16.43% AA. Statistical analysis showed that the genotype and allele frequencies of IL-18 rs1946518 C/A polymorphism were not significantly different between BC patients and healthy controls (p>0.05). The only significant difference between cases and controls was related to family history (p=0.023).

In conclusion, our study indicated that IL-18 rs1946518 C/A polymorphism was not associated with BC in the Iranian women population. However, more studies on different races and geographic areas are required to determine the exact role of rs1946518 C/A polymorphism in prognosis, diagnosis, and risk of BC.