Year : 2020 | Volume
: 33 | Issue : 3 | Page : 904--908
Association of type 1 collagen (COLIA1) gene polymorphism with osteoporosis in thalassemia major
Rawhia H Eledel1, Amal H Abdelhamid2, Seham M Ragab3, Thoria A Omar1, Samya S. M. Mashal1
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
The objective of this article is to study the association of COLIA1 gene polymorphism with osteoporosis in thalassemia major.
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.
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).
Early detection of the SP1 binding site on the COLIA1 gene polymorphism among thalassemic patients could help in the management of these patients.
Samya S. M. Mashal
Berket Alsabih, Menoufia
|How to cite this article:|
Eledel RH, Abdelhamid AH, Ragab SM, Omar TA, Mashal SS. Association of type 1 collagen (COLIA1) gene polymorphism with osteoporosis in thalassemia major.Menoufia Med J 2020;33:904-908
|How to cite this URL:|
Eledel RH, Abdelhamid AH, Ragab SM, Omar TA, Mashal SS. Association of type 1 collagen (COLIA1) gene polymorphism with osteoporosis in thalassemia major. Menoufia Med J [serial online] 2020 [cited 2020 Nov 27 ];33:904-908
Available from: http://www.mmj.eg.net/article.asp?issn=1110-2098;year=2020;volume=33;issue=3;spage=904;epage=908;aulast=Eledel;type=0