Introduction:

ORM1 gene located on the long arm of chromosome 9 encodes for alpha-1-acid glycoprotein (AGP1), the gene contains two single nucleotide variants located in exon 1 and exon 5, which are implicated in immunosuppressive activities of AGP1, affecting the progress and clinical course of diseases such as cancer. Due to the foregoing, the objective of this study was to determine the genotypic and allelic frequency of variants c.113G>A of exon 1 and c.520G>A of exon 5 of the ORM1 gene, to evaluate their association with breast cancer (BC).

Materials and methods:

A case-control study was conducted, 101 patients diagnosed with adenocarcinoma of mammary gland and 104 healthy women were included. Of each participant DNA was obtained for the genotyping of 2 variants of the gene ORM1 and assesses its clinical correlation.

Results:

The analysis of the genotypic and allelic frequencies of the variant c.520G>A of exon 5 showed that patients with BC had a higher frequency of the GG genotype compared to controls (99% vs. 89.42%; respectively). While the phenotype-genotype correlation of exon 1 showed that patients with BC and GG genotype had a higher age at the time of their last calving date, compared to genotype AA and AG patients (36.44 ± 0.83 vs. 32.35 ± 0.98 and 31.44 ± 0.83, respectively), both results was statistically significant (p < 0.05).

Conclusions:

The polymorphisms of the gene ORM1 and its protein could intervene in BC affecting the clinical course and progression of the disease.