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Study of Cysteine-Rich Protein 61 Genetic Polymorphism in Predisposition to Fracture Nonunion: A Case Control

机译:富含半胱氨酸的蛋白61基因多态性易致骨折骨不连的研究:病例对照

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摘要

Background. Many factors are responsible for this impaired healing, especially in long bones, but a possible genetic predisposition for the development of this complication remains unknown till now. In the present study, we aim to examine the CYR61 gene polymorphism in fracture nonunion patients and the correlation with clinical findings. Materials and Methods. We performed SNP analysis of the CYR61 gene in 250 fracture nonunion patients and 250 healthy subjects were genotyped in this hospital-based case control study, and 56 cases were further evaluated for mRNA expression of CYR61 by real-time quantitative reverse-transcription PCR. Results. CYR61 gene TT, TG, and GG genotype frequencies of total fracture nonunion cases were 41.6%, 49.2%, and 9.20% and 54.4%, 39.2%, and 6.40% in healthy controls. Heterozygous TG genotype was found statistically significant in fracture nonunion cases compared with that in controls, whereas homozygous mutant GG genotype was not found significant. Moreover, we found that TG + GG genotypes were significantly different in serum expression of CYR61 mRNA when compared with cases (TT genotypes). Conclusions. Our result signifies that genotype of CYR61 affects the mRNA expression and acts as a risk factor that could synergistically increase the susceptibility of a patient to develop fracture nonunion.
机译:背景。许多因素是造成这种愈合不良的原因,尤其是在长骨中,但是到目前为止,这种并发症发展的可能遗传诱因仍然未知。在本研究中,我们旨在检查骨折不愈合患者的CYR61基因多态性及其与临床发现的相关性。材料和方法。我们对250例骨折不愈合患者的CYR61基因进行了SNP分析,在该医院病例对照研究中对250例健康受试者进行了基因分型,并通过实时定量逆转录PCR进一步评估了56例CYR61 mRNA的表达。结果。在健康对照组中,CYR61基因TT,TG和GG基因型频率在总骨折不愈合病例中分别为41.6%,49.2%和9.20%,54.4%,39.2%和6.40%。与对照组相比,骨折不愈合病例中杂合TG基因型具有统计学意义,而纯合突变体GG基因型则无统计学意义。此外,我们发现与病例(TT基因型)相比,TG + GG基因型在CYR61 mRNA血清表达中存在显着差异。结论。我们的结果表明CYR61的基因型影响mRNA的表达,并作为可能协同增加患者发生骨折骨不连的敏感性的危险因素。

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