Thalassaemia patients with polymorphism of COL1A1 Sp1 are at greater risk of spine degenerative changes | [Journal of College of Physicians and Surgeons--Pakistan : JCPSP • 2023]

Author(s):

1. Sadia Hassan: Department of Anatomy, University of Health Sciences,Lahore,Pakistan; Department of Anatomy, Services Institute of Medical Sciences,Lahore,Pakistan

2. Osheen Sajjad: Department of Allied Health Sciences, University of Health Sciences,Lahore,Pakistan

3. Tehreem Fatima: Department of Anatomy, Services Institute of Medical Sciences,Lahore,Pakistan

4. Bushra Irum: Department of Anatomy, University of Health Sciences,Lahore,Pakistan

5. Saqib Mehmood: Department of Allied Health Sciences, University of Health Sciences,Lahore,Pakistan

6. Uruj Zehra: Department of Anatomy, University of Health Sciences,Lahore,Pakistan

Abstract:

Objective: To explore the association of the COL1A1 Sp1 polymorphism with decreased bone density and spinal changes in ²thalassaemia patients. Study Design: Cross-sectional, comparative study. Place and Duration of the Study: University of Health Sciences, Lahore, from May 2020 to June 2021. Methodology: A total of 110 participants (55patients and 55 controls) of either gender, with ages ranging from 18-40 years were enrolled in the study. Bone density parameters including T-score, Z-score, bone-transmission time (BTT), and amplitude-dependent speed of sound (ADSOS) were assessed by ultrasound bone pro ler. Lumbar spine radiographs were collected from patients and assessed for spine changes. Genotype analysis was done by HRM-PCR. Data were analysed using SPSS version 23. Results: All bone density parameters were signi cantly lower in ²-thalassaemai patients (p<0.001). Spine degenerative changes were more obvious in patients with age <25 years (p=0.04). Loss of lumbar lordosis was seen in 74.5% of the patients. The frequency of mutant allele (ss) was 7.3% while heterozygous (Ss) frequency was found to be 33.6%. The polymorphism showed signi cant association with T-scores (p=0.03) and ADSOS (p=0.02) in patients. Radiographic grades were higher in osteopenic and osteoporotic patients (p=0.04). Conclusion: The association of polymorphism with decreased bone density in ²-thalassaemia patients revealed the potential role of genetics in bone changes and related disorders.

Page(s): 1379-1384

DOI: 10.29271/jcpsp.2023.12.1379

Published: Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 33, Issue: 12, Year: 2023

Keywords:

bone density , Osteoporosis , thalassaemia , COL1A1 Polymorphism

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