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Subject Area

Urology

Article Type

Original Study

Abstract

Objectives To determine the incidence of SP1 polymorphism in the COLIA1 gene and its correlation to bone mineral density in patients with beta-thalassemia major (TM). Background B-thalassemia is an autosomal-recessive disorder and considered one of the most severe health problems worldwide. Osteoporosis is a devastating bone disease marked by loss of bone mass, microarchitecture, and increased fracture risk. Polymorphism at the Sp1-binding site of the collagen-type I A1 (COLIA1) gene is thought to be an essential factor in the development of osteoporosis. Methods Alleles S and s in the regulatory site of the COLIA1 gene were investigated in 72 children with TM on iron-chelation therapy using PCR–restriction-fragment-length polymorphism. One hundred twenty healthy children were included as a control group. The assessment of bone mineral density in children with TM was done using dual-energy radiograph absorptiometry (DEXA lunar DPX) at the lumbar spine (L2–L4) in A–P projection. Results The homozygous wild genotype (SS) was predominant in the controls (75%). In comparison, the heterozygous mutant genotype (Ss) was predominant in the TM patients. The homozygous mutant genotype (ss) was found only in the TM group (14%) (P < 0.001). The minor s-allele frequency was significantly higher in the TM group (P = 0.006). The Z scores were significantly lower in the mutant genotypes (Ss and ss) when compared with the wild type (SS) in the TM group (P = 0.003). Conclusions Early detection of Sp1-binding-site mutations in children with TM can help in the early prediction of osteoporosis and preventive management initiation to maintain normal bone health.

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