ABSTRACT
BACKGROUND: The infertile women have an increased risk of developing benign and malignant tumors, in particular, breast cancer. Most studies have examined the role of gene variants in the risk of developing breast cancer, but there is little evidence of genetic risk factors for benign tumors. AIM: To assess the combined genetic risk of developing mastopathy in women with FSHR (rs6165, rs6166) and ESR1 (rs9340799, rs2234693) gene variants. MATERIALS AND METHODS: The study included 87 infertile women (45 with concomitant fibrocystic mastopathy and 42 without mastopathy). RESULTS: For rs9340799 and rs2234693 variants of the ESR1 gene, we did not find any significant differences in the distribution of genotypes in infertile women with or without mastopathy. In patients with mastopathy, there was a reliable increase in the frequency of 307Ala/Ala and 680Ser/Ser genotypes of FSHR gene (χ2 = 6.39, p = 0.012, OR = 4.49 (1.48-13.65)) as compared to patients without mastopathy. In the presence of 307Thr/Thr and 680Asn/Asn genotypes of the FSHR gene, a 4.88-fold reduction of mastopathy risk (χ2 = 8.06, p = 0.005, OR = 0.21(0.07-0.59)) was observed. The frequency of the FSHR and the ESR1 genotypes combinations - 307Thr/Thr+680Asn/Asn+351AG+397TC was significantly decreased in patients with mastopathy. CONCLUSIONS: Our study did not find an association of ESR1 gene variants with the risk of developing of mastopathy in infertile women although heterozygous variants of the ESR1 gene enhanced the "protective" effect of FSHR gene variants and reduced the risk of mastopathy.
Subject(s)
Estrogen Receptor alpha/genetics , Fibrocystic Breast Disease/pathology , Genetic Predisposition to Disease , Infertility, Female/complications , Polymorphism, Single Nucleotide , Receptors, FSH/genetics , Female , Fibrocystic Breast Disease/etiology , Fibrocystic Breast Disease/metabolism , Follow-Up Studies , Genotype , Humans , Middle Aged , PrognosisABSTRACT
Laparoscopy was performed in women for diagnosis and treatment of infertility and chronic pelvic pain (CHPP). While laparoscopy performance in all the women there was revealed the adhesion process in the region of the uterine accessories, in 42.5% of them--in a small pelvis and abdominal organs, more frequently various forms of genital endometriosis were revealed, and it is interesting, that it was revealed for the first time in 33.75% of women intraoperatively. Coexistence of adenomyosis and external genital endometriosis was noted in 51.25% observations, what is trustworthy more, than in women, suffering infertility without CHPP. The concomitant affection rate is trustworthy enhanced, than in women, suffering infertility without CHPP.
