دراسة بعض العوامل الوراثية وعوامل الخطورة في النساء المصابات بالتليف الرحمي في محافظة كربلاء

Studying of some genetic and risk factors in women with uterine fibrosis in karbala province

Uterine Fibrosis UFs is one of the most common in women it occurs at reproductive age and grows with uterine smooth tissue growth. this study was conducted to identify some of the molecular genetic aspects of women with UFS (Uterine Fibrosis)blood samples were taken from the Obstetrics and gynecology hospital in karbala governorate, which included (50) women with uterine fibrosis with (50) apparently healthy women (control group) aged between (30-60) years and during the period from10 October/ 2022 to 15 February /2023.the study included several axes. the first axis included the study of the impact of some risk factors in women with UFs, including the body mass index (BMI), age, patient’s family history, the use of oral contraceptives menstrual periods, abortion and number of births. the second axis dealt with the study of the level of vitamin D concentration in the blood serum of women with UFs and compared it to a group of control women. the third axis included a study of polymorphisms of the vitamin D receptor gene -VDR (rs2228570) using the RFLP-PCR technique. using the FOK1 categorical enzyme in each of the group of women with uterine fibrosis and the group of control women and to determine the association between the allelic forms of the VDR gene with vitamin D concentration, The fourth axis included a study of the polymorphism of the tumor necrosis factor-alpha gene (rs1800629) (TNF-α-308) using the (Allele Specific PCR) technique in both the group of women with uterine fibrosis and the group of control women. as for the last axis. it included Study of association of polymorphisms of VDR and TNF-α-308 genes with body mass index (BMI) in both cohorts.the study found an increase in the percentages of some risk factors for women with uterine fibroiss. It found an increase at a significant level (P ≤ 0.01) in the percentage of Body Mass Index (BMI) for women with UFs compared to control women. as the percentage reached (30.42±4.42)and(26.16±4.74) m2/Kg.respectively.while no significant difference was observed between the age rates between infected women and non-infected women.an increase in the percentages was also observed in women with irregular menstrual cycles, as it was noted that (52 %) of women with UFs suffer from irregular menstrual cycles and disturbances in their hormonal levels. compared to (48%)of infected women with regular menstruation. and the percentage of childless women increased to (60%) compared to (40%) of infected women with multiple births .as for the level of measuring vitamin D concentration. the results showed that there was a significant decrease in the level of vitamin D concentration in the group of women with UFs, with highly significant differences at the level (P ≤ 0.01). and their vitamin D level reached (20.14 ±12.6) nano grams/ml compared to the level of vitamin D concentration in control women. whose concentration reached (29.60 ±12.1) nano grams/ml.
as for the results of the molecular study, the results for the vitamin D receptor (VDR) gene (rs2228570) showed the presence of two alleles and three genotypes (CC.TT.CT) in both the group of women with uterine fibrosis and the control women. there was no significant difference in the numbers and percentages of repeat patterns. (CT.TT.CC) for both groups and the frequency of those alleles within one group (UFs and control group) with an increase in the frequency of the genotype (CT) in both groups, which amounted to 25 (50%) in the UFs group compared to 20 (40%) in the control group. when comparing the polymorphisms of the VDR gene with vitamin D concentration.it was found that there was a significant correlation at a significant level (P≤0.01) (P=0.1211**) between the genotype (CT) and the low level of vitamin D concentration, which amounted to (18.52 ± 9.35) ng/ml in women with UFs vs. (26.10 ± 4.95) ng/ml in healthy women.as for the gene of tumor necrosis factor-alpha- (TNF-α-308) (rs1800629).the presence of two alleles and three polymorphisms (GG.GA.AA) was found in both the affected and control women, A significant difference (P≤0.05) (P= 0.0291*) for the percentage of recurrences of the genotype (GG) was observed 30(60%) in women with UFs versus 40 (80%) in healthy women. and there was a decrease in the percentage For the AA genotype in both groups. its percentage in the UFs group reached 2 (4%) compared to 0 (0%) in the control group.while the GA genotype was 18 (36%) and 10 (20%) for the two groups respectively. and without a significant difference (P>0.05). and when comparing body mass index (BMI) with the allelic forms of the (VDR and TNF-α) genes, the association of the genotype (CT) of the VDR gene) was observed at a significant level (P≤0.01)(P=0.0012**)with the average percentage of BMI for the uterine fibrosis and the control groups.where the highest percentage of BMI (31.66 ± 4.32) was recorded for the CT genotype of the UFs group. also.the association of the genotype (GG) of the (TNF-α) gene with body mass index (BMI) was found. in both groups and at the level of significance (P≤ 0.01).
(P= 0.0001**) and the highest mean value of BMI reached (30.52 ± 4.40) in the UFs group versus (25.84 ± 4.21) for the control group, while no statistical differences appeared (P>0.01) between the percentages of a gene TNF-α and BMI percentages for the two UFs and control groups relative to the percentages of genotypes (GA.AA).