Title : Genetic association between symptoms of mild Osteogenesis Imperfecta(OI) and postmenopausal osteoporosis
Abstract:
Background-aim: Mild osteogenesis imperfecta OI and postmenopausal osteoporosis are both bone disorders. Mild OI may be associated with postmenopausal osteoporosis. According to NCBI, COL1A2rs72658152 (COL1A2G661S) is a pathogenic proven cause of the association between mild OI and postmenopausal osteoporosis. The challenges facing DEXA and the treatment plans of the World Health Organization WHO for osteoporosis require a search for new diagnostic solutions such as genetic methods.
Methods: COL1A2rs72658152 was detected by Restriction Fragment Length Polymorphism RFLP and DNA sequencing on 150 EDTA blood samples from pre and post menopause women in Tishreen University Hospital. BMD was measured using DEXA. A clinical examination was conducted for the participants. A questionnaire was filled out with information related to the study. Related-Samples McNemar Change Test, Chi-Square Test, and binary logistic regression was used as a statistical method to estimate the correlation between mild OI and postmenopausal (osteopenia or osteoporosis) under 95% confidence level (α ≤ .050) as well as the correlation between (mild OI, postmenopausal osteoporosis or osteopenia) and some morphological characteristics under 95% confidence (α≤ .050).
Results: The significant chance to the occurrence of mild OI with postmenopausal osteopenia or osteoporosis is 10.8% with confidence level of 95% or more (p ≤.05). Strong asymptotic significance of (2-sided) correlation is found between mild OI, on one hand, and postmenopausal osteopenia or osteoporosis on the other (Chi-Square = 29.066, p=.000< .05(. Mild OI has a significant impact on postmenopausal osteoporosis or osteopenia (p= .000<.05). They are in positive correlation relationship according to the nature of tendency slop (B=1.758).
Conclusions: Mild OI is associated with postmenopausal osteopenia and osteoporosis with statistical significance with reasons other than COL1A2G661S, and no specific morphological characteristics are found. Postmenopausal osteoporosis is not a primary osteoporosis because there are causes for it to occur. This is contrary to WHO classification.
