Influence of +61 G/A Polymorphism on EGF Gene Expression Due To Altered Transcription Factor Binding and mRNA Stability

Ch. Bharathi; D. Krishnaveni; N. Pratibha; Aruna Ramaiah; A. Venkateshwari

Volume : VIII, Issue : XII, December - 2018

Influence of +61 G/A Polymorphism on EGF Gene Expression Due To Altered Transcription Factor Binding and mRNA Stability

Ch. Bharathi, D. Krishnaveni, N. Pratibha, Aruna Ramaiah, A. Venkateshwari

Abstract :

Background: Uterine Leiomyomas are the stable pelvic benign neoplasms characterized by abnormal myometrial cell proliferation initiated by steroid hormones which act on their target tissue through local modulation of growth factors like EGF, TGF, VEGF and PDGF.

Aim of The Study: The present study was conducted to investigate the association of EGF +61 G/A 5’ UTR polymorphism with uterine leiomyomas.

Patients and Methods: A total of 104 women with uterine leiomyomas and an equal number of healthy women without any reproductive abnormalities were included in the present study. Genotyping of the EGF gene (rs4444903) polymorphism was carried out using PCR–RFLP followed by agarose gel electrophoresis.

Results: Appropriate statistical methods were applied to test for the significance of the results obtained. The demographic characteristics of patients and controls revealed significant difference with respect to age (p=0.0005), BMI (p=0.00086), age at menarche (p=0.00528), parity (p=0.0078), menorrhea (p=0.00001) and a borderline significance with respect to diet (p=0.06). The genotype frequencies of GG, GA and AA were 18.2%, 68.2% and 13.4% in controls and 23.04%, 56.7% and 20.1% in patients respectively, whereas the frequency of G and A allele among control group were 52.4% and 47.5% and case group was 51.44% and 48.55% respectively. There was no statistical significanct difference in the distribution of genotypic or allelic frequencies between the two groups. The bioinformatic results have shown changes in pre–mRNA structure and transcription factor binding site between “G” and “A” alleles.

Conclusion: The present study suggests that EGF +61 G/A gene polymorphism may not be a major genetic regulator in the etiology of uterine leiomyomas.