Oestrogen receptor alpha PvuII polymorphism and uterine fibroid incidence in Caucasian women

Abstract

IntroductionUterine fibroids (UFs) are benign, monoclonal tumours of the female genital tract that originate from the myometrium. They may be diagnosed in as many as 80% of women depending on the selected population. UFs depend mostly on steroid hormones. Elevated levels of oestrogens and progesterone are believed to be among the most important factors inducing their formation and growth. These facts suggest that oestrogen (ESR) and progesterone receptors are crucial in UF pathophysiology as well. Previous studies have shown that, in some populations, polymorphisms in ESR genes (e.g. PvuII) constitute an important risk factor for UFs.Material and methodsThe aim of our study was to investigate whether ESRα PvuII polymorphism is associated with an increased risk of UFs in Caucasian women of Polish origin. A total of 197 patients (114 UF-positive and 83 controls) were included in this retrospective cohort study. ESRα gene polymorphism PvuII (rs2234693) was assayed with PCR and restriction fragment length polymorphism (RFLP).ResultsOur study found no significant difference in the occurrence of ESR PvuII polymorphism between women with UFs and UF-free controls in the selected population.ConclusionsOur results did not indicate a significant association between ESRα gene PvuII polymorphism and the risk of UFs in Caucasian women of Polish origin. More studies and comparisons between races are necessary to clarify the role of ESRα in the development and progression of UFs.

Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet

“…Other significant risk factors that we observed include, BMI, use of herbal medicine, family history, miscarriage, and abortion. These factors have also been previously reported [ 2 , 45 – 53 ].…”

Association between ESR1 rs2234693 single nucleotide polymorphism and uterine fibroids in Taiwanese premenopausal and postmenopausal women

“…The role of the ESR1 gene in the pathogenesis of UFs and other gynecologic diseases has been reported [27,[33][34][35]56]. Regarding UF pathobiology, the role of ESR1 is attributed, in part to rs2234693 [33,35,42]. This genetic variant alters the binding of transcription factors and affects alternative splicing of ESR1, thereby influencing its expression and functionality [29,34,57,58].…”

“…Single nucleotide polymorphisms (SNPs) play a key role in the effective prevention of diseases because they serve as disease markers that assist in the early identification of at-risk individuals [39]. For instance, ESR1 PvuII (rs2234693), a genetic variation caused by a nucleotide change from T to C (T > C) is the most studied variant of the ESR1 gene [22,[40][41][42]. It has been associated with an increased risk of UFs in Taiwanese [35], Black, and White American women [33], but not in German [43], Polish [42], Italian [44,45], Hispanic [33], and Iranian women [46].…”

“…For instance, ESR1 PvuII (rs2234693), a genetic variation caused by a nucleotide change from T to C (T > C) is the most studied variant of the ESR1 gene [22,[40][41][42]. It has been associated with an increased risk of UFs in Taiwanese [35], Black, and White American women [33], but not in German [43], Polish [42], Italian [44,45], Hispanic [33], and Iranian women [46]. Given this controversial relationship between the variant and UFs, further epidemiological research is needed.…”

“…Given this controversial relationship between the variant and UFs, further epidemiological research is needed. Furthermore, studies with large sample sizes have been recommended to clarify the relationship between rs2234693 and UFs [42]. Therefore, we carried out this study to determine the association between the ESR1 rs2234693 SNP and UFs in Taiwanese premenopausal and postmenopausal women.…”