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Year : 2020  |  Volume : 33  |  Issue : 3  |  Page : 904-908

Association of type 1 collagen (COLIA1) gene polymorphism with osteoporosis in thalassemia major

1 Department of Clinical Pathology, Faculty of Medicine, Menoufia University, Menoufia, Egypt
2 Department of Clinical Pathology, Faculty of Medicine, Tanta University, Tanta, Egypt
3 Department of Pediatric Medicine, Faculty of Medicine, Menoufia University, Menoufia, Egypt

Correspondence Address:
Samya S. M. Mashal
Berket Alsabih, Menoufia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mmj.mmj_318_18

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Objectives The objective of this article is to study the association of COLIA1 gene polymorphism with osteoporosis in thalassemia major. Background Beta-thalassemia is a group of autosomal recessive hereditary hemoglobinopathy characterized by a deficiency or absence of B globin chain of adult hemoglobin. Osteoporosis is common sequelae in these patients. Several genes are involved in the development of osteoporosis such as collagen type I alpha 1, vitamin D receptors, estrogen receptors, and interleukin-6 which monitor bone mineral density and bone shape and structure. COLIA1 encodes the alpha 1 chain of collagen type I which is the most abundant structural protein in the bone matrix. Patients and methods Sixty patients with beta-thalassemia (29 women, 31 men) aged 4–15 years and 20 healthy participants were cross-matched with age and sex. Serum calcium, serum phosphorus, serum alkaline phosphatase, and dual-energy radiograph absorptiometry scan were examined in the studied groups. The COLIA1 gene polymorphism was measured by restriction fragment length polymorphism-PCR. Results The study indicated that the SS genotype in thalassemia is 48.3%, but higher in the control group (80%). The Ss genotype in thalassemia is 43.3% but lower in the control group (20%) and the ss genotype in thalassemia is 8.3 but in the control group is 0% (P = 0.042). The frequency of S alleles in thalassemia is 70% but in the control group is 90% and the frequency of s alleles in thalassemia is 30% but in the control group is 10% (P = 0.011). Conclusion Early detection of the SP1 binding site on the COLIA1 gene polymorphism among thalassemic patients could help in the management of these patients.

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