Molecular Study of VDR Gene in Women with Osteoporosis in Mosul City

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Maryam M. Alani, Haytham L. ALheyali


Osteoporosis is one of the most common diseases in the world, and it is identified by the changes that occur in bone mineral density according to international health standards, and the disease is diagnosed by dual-energy X-ray DEXA. Osteoporosis is divided into two types (primary and secondary), where the primary type is in elderly men and women due to aging and in women in menopause. As for secondary osteoporosis, it is the result of different diseases and treatments, or because of tumors, cancerous diseases, systemic diseases, and endocrine diseases. Different diets, wrong diets, and lack of exercise are all causes of osteoporosis [1]

The current study included (96) women, ages ranging from (45-35) years, from the reviews to the private pathological analyzes laboratories in the city of Mosul, in a period of time ranging from September to November of the year 2021, and the clinical cases of the disease were relied upon in selecting samples. The samples were divided into two groups depending on the biochemical results: The first group: This group included 25 women who did not suffer from any problems and was considered as a control group, The second group: This group included 71 women with osteoporosis based on biochemical results. The biochemical indicators associated with osteoporosis were measured (Osteocalcin, Pyridinoline, Hydroxyprolin), and the level of a number of biochemical variables (V.D, Uric acid, Ca) was determined, and the genetic variation of a number of genes associated with osteoporosis was determined (COL1A1gene, COL1A2). gene, VDR gene), the VDR gene at the locus (rs7975232), the results for women with osteoporosis showed that the recurrence value of the CC mutant genotype in the group of women with osteoporosis was 18%, compared to 15% for the mutant genotype in the control group. 15%, while the value of the normal (normal) genotype, AA, was 37% among women with osteoporosis, compared to the healthy group, in which the percentage of the normal (normal) genotype was as high as 40%. As for the heterogeneous genotype, AC, it was 45% in the group of afflicted women. The percentage of observations was equal to the control group 45%, As for the allelic frequency, the results showed that the incidence of the mutant allele C was high in the patients group, 40% compared to the control group, 38%. As for the natural allele, the percentage was 60% in the patients, compared to 62% in the control group. And after conducting a sequence test and matching the VDR gene in the study samples with the control sample and matching it with the gene sequence on the NCBI website, it turns out that we have many different genetic variations, which are divided into two basic types, either transition variations or (Transversion) variations and their locations depending on the type of bases heterogeneous. The results of the study also showed that there is a genetic relationship between variations and different genotypes with biochemical indicators of osteoporosis.

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