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Abstract <p>Thalassemia is the most prevalent form of inherited anemia throughout the world. It is estimated by the World Health Organization that approximately 60 000 babies are born with significant forms of thalassemia each year. This study uncovers the role of <i>LRP5</i> (<i>rs4988321</i>, <i>rs3736228</i>) and <i>VEGF</i> (<i>rs699947</i>) genetic variants as genetic modifiers affecting vascular and skeletal complications by examining their frequency and association in β-thalassemia patients. The T allele of <i>LRP5</i> gene SNP <i>rs3736228</i> was more prevalent in patients (66%) than controls (24%) and exhibited strong relationships under different genetic models, confirming its contribution to disturbed <i>Wnt</i> signalling and decreased bone homeostasis. Similarly, patients had a higher prevalence of the A allele of <i>VEGF</i> <i>rs699947</i> (9%) as compared to that in controls (4%), indicating its role in vascular dysfunction especially iron overload and disease vulnerability. These results highlight the potential of <i>VEGF</i> and <i>LRP5</i> gene polymorphisms as predictive biomarkers for skeletal and vascular problems associated with thalassemia.</p>

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Genetic Insights into β-Thalassemia: Association of LRP5 and VEGF Polymorphisms with Skeletal and Vascular Complications

  • 期刊论文

  • 发表日期：

    2026年6月15日

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  • Bisma Naeem,
  • Warisha Nabeel,
  • Um-e-Hani Usmani,
  • Nageen Hussain,
  • Hassan Saeed,
  • Nawal Al-Hoshani,
  • Rania Ali El Hadi Mohamed,
  • Manal F. Elkhadragy,
  • Maher S. Alwethaynani,
  • Ghulam Nabi

摘要

Abstract

Thalassemia is the most prevalent form of inherited anemia throughout the world. It is estimated by the World Health Organization that approximately 60 000 babies are born with significant forms of thalassemia each year. This study uncovers the role of LRP5 (rs4988321, rs3736228) and VEGF (rs699947) genetic variants as genetic modifiers affecting vascular and skeletal complications by examining their frequency and association in β-thalassemia patients. The T allele of LRP5 gene SNP rs3736228 was more prevalent in patients (66%) than controls (24%) and exhibited strong relationships under different genetic models, confirming its contribution to disturbed Wnt signalling and decreased bone homeostasis. Similarly, patients had a higher prevalence of the A allele of VEGF rs699947 (9%) as compared to that in controls (4%), indicating its role in vascular dysfunction especially iron overload and disease vulnerability. These results highlight the potential of VEGF and LRP5 gene polymorphisms as predictive biomarkers for skeletal and vascular problems associated with thalassemia.