The role of epidermal growth factor receptor (EGFR) common gene mutations in Iranian women with uterine fibroids

Abstract

Objective: Uterine myomas are benign uterine tumors that originate from smooth muscle cells of the myometrium. This common complication can be associated with irreversible complications, including infertility and malignancy. Better understanding of the genetic characteristics of myoma may effect on treatment. Epidermal growth factor receptor gene (EGFR) is one of the most important genes that has the major role in the pathogenesis of myoma, cell growth, differentiation, proliferation and mutagenesis. The aim of this study was to investigate EGFR common gene mutations in Iranian women with uterine fibroids.

Methods: In this case-control study, Common EGFR gene mutations in exons 21 and exons 19 of 100 women with uterine leiomyoma as cases and 100 healthy women as controls were studied. To investigate deletion mutations of exon 19 (rs121913438) and point mutations of exon 21 (rs121434568), Tetra ARMS/PCR, ARMS and conventional PCR methods were used respectively and the results were analyzed using χ 2 test. Odds ratios (ORs) and 95% confidence intervals (CI) were estimated using logistic regression with control for age.

Result: Our results showed significant difference in genotypes frequency of (TT, TG, GG) for exon 21 and (WW, WD, DD) of exon 19 among cases and controls (P-Value = 5.672e-20) and (P-Value = 3.242e-15). There was a significant relationship between [G] allele and risk uterine myoma (P-Value = 3.018e-36) and the presence of [G] allele increased the chance of developing the disease OR = 0.004, 95% CI 0.001-0.013. The result also showed significant relationship between [D] allele and risk of uterine myoma (P-Value = 1.324e-15). In addition, presence of [D] allele, increased the chance of developing the disease (OR = 0.008, 95% C.I. = 0.002-0.033).

Conclusion: The results indicated a significant correlation between mutations in exon 19 (rs121913438) and exon 21(rs121434568) of EGFR gene and susceptibility of myoma in the study population.

Keywords: EGFR gene; Genetics; Malignancy; Uterine myoma.