Published online Sep 26, 2020. doi: 10.12998/wjcc.v8.i18.4017
Peer-review started: June 16, 2020
First decision: July 25, 2020
Revised: August 5, 2020
Accepted: August 15, 2020
Article in press: August 15, 2020
Published online: September 26, 2020
Processing time: 97 Days and 23.6 Hours
Granulomatous lobular mastitis is a chronic disease of the breast. Its clinical and radiological features are similar to breast cancer, which makes its diagnosis and treatment complicated. To date, there is no obviously effective treatment for it because its etiology and pathogenesis remain unclear. Several potential reasons include autoimmunity, hormonal disorders, gene polymorphisms, etc. For polymorphisms, the relationship between common variants of MTHFR, e.g., 677T and 1298C, and granulomatous lobular mastitis was not fully understood.
Identification of the pathogenic genes for granulomatous lobular mastitis will aid in the diagnosis of this disorder by using gene testing. In addition, it will help in the development of targeted therapy, which will allow for better clinical outcomes.
This study aimed to analyze the association between MTHFR gene polymorphism and granulomatous lobular mastitis.
Participants were enrolled and divided into two groups, an experimental group and a control group. The experimental group included patients with granulomatous lobular mastitis. Participants in the control group were women who underwent physical examination. Blood specimen was collected for MTHFR A1298C and C677T gene polymorphisms. The expression of C677T and A1298C MTHFR genes were observed at different loci.
The results revealed that there were significant differences in C/C and C/T genotype frequency between the experimental group and the control group (all P < 0.05). In addition, there were significant differences in allele frequency between the two groups (all P < 0.05).
MTHFR gene was a susceptible factor for granulomatous lobular mastitis, and it causes specificity of genetic loci.
The relationship between common variants of MTHFR and the incidence of granulomatous lobular mastitis should be further identified in clinical practice with a large number of patients.