رسائل دكتوراة
English
2021
study the biochemical markers and genes associated with osteoporosis in women in Karbala province
سرور محمد علي عبد الله, محمد عبد الله جبر جاسم
كلية العلوم-جامعة بابل · العراق
In this study, the following biochemical parameters were determined: Superoxide dismutase (SOD) activity, Catalase (CAT) activity, Hydrogen peroxide (H₂O₂), vitamin D, calcium concentration, and lipid peroxidation marker such as (MDA). The present study also determined polymorphism in genes VDR (rs7975232), VDR (rs15444410), COL1A2 (rs412777), and GSR (rs2978663) in blood of osteoporotic patients as compared with control. The study period was between September 2019 to May 2021 at Babylon University, College of Science, Biotechnology Laboratory. This research was a case-control study. Blood samples were collected from 64 osteoporotic patients, and 36 samples were collected as a control group. The demographic characteristics of osteoporotic patients were recorded for age percentage of the age group (20 to 40 years), (41 to 60 years), (above 60 years), which was (12%, 34%, 54%) respectively. While the percentage of married female patients was higher (92%) than the percentage of single female patients (8%), the percentage of (no pregnancy) of osteoporosis females was lower (5%), followed by the group (1–3 pregnancy) (20%) and (>3 pregnancy) (75%) respectively (P value = 0.000). The percentage of osteoporosis patients with chronic disease was higher (61%) than the percentage of osteoporosis patients with non-chronic disease (39%), while the percentage of severely obese (52%) was higher than the percentage of other categories (overweight 33%, morbidly obese 3%), while the smallest category percentage was (healthy weight 21%) (P value = 0.02).
The results of the present study showed significant differences between control and patients with osteoporosis at (P˂0.05) in the biochemical markers. The Superoxide Dismutase (SOD) activity in control was (65.61 ± 26.79) U/ml while its activity in the case was significantly increased to reach (83.43 ± 9.01) U/ml. CAT activity in control was (16.22 ± 8.10) U/ml, whereas its activity in cases with osteoporosis significantly increased to reach (19.30 ± 7.83) U/ml. Hydrogen peroxide (H₂O₂) concentration in control was recorded (0.61 ± 1.273) nmol/ml, its concentration in the case was significantly decreased to reach (0.12 ± 0.97) nmol/ml. Lipid peroxidation marker such as (MDA), vitamin D, and calcium concentration showed non-significant differences between control and patients. The concentration of MDA in control was (1.88 ± 1.25) µmol/ml while its concentration in the case was decreased to reach (1.692 ± 0.9266) µmol/ml. Vitamin D concentration in control was recorded (19.54 ± 19.28) ng/mL, its concentration in the case was decreased to reach (17.09 ± 11.57) ng/mL. Calcium concentration in control was recorded (9.02 ± 0.710) ng/mL, its concentration in the case was decreased to reach (8.64 ± 1.18) ng/mL.
The molecular investigations for the polymorphism of the vitamin D receptor (VDR), Collagen Type I Alpha 2 Chain (COL1A2), and Glutathione S-Reductase (GSR) genes have been conducted through PCR-RFLP technique for (rs7975232, rs15444410, rs412777, and rs2978663). The results of VDR ApaI (rs2070424) revealed that the mutant homozygous (A/A) is more dominant (48.4% and 58%) in patients and control groups respectively when compared with the other genotypes (C/A, and C/C) (P = 0.8295). While VDR BsmI (rs15444410) showed that the mutant heterozygous (A/G) is more dominant (65.6% and 64%) in case and control samples respectively when compared with the other genotypes (A/A, and G/G) (P = 0.3433). The results of COL1A2 (rs412777) revealed that heterozygous mutant genotypes (A/C) were more frequent (59.3% and 86.1%) in patients and control samples respectively. Mutant heterozygous genotypes (A/C) had a significantly higher risk of osteoporosis (P = 0.0292, OR = 0.2298, 95% CI = 0.0613–0.8614). The results of GSR (rs2978663) revealed that heterozygous mutant genotypes (G/A) were more frequent (51.5% and 77.8%) in patients and control samples respectively. Mutant heterozygous genotypes (G/A) had a significantly higher risk of osteoporosis (P = 0.0434, OR = 0.1964, 95% CI = 0.0405–0.9531).