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Association of Common Variants in TGFA with Increased Risk of Knee Osteoarthritis Susceptibility

机译：协会在TGFA常见变异增加膝关节骨关节炎的风险磁化率

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Objective: Osteoarthritis (OA) is a complex degenerative joint disorder, which has contributions from both environmental and genetic factors. Several recent publications have established the connection between hip OA susceptibility and genetic markers within the TGFA gene, however, the relationship of these markers with knee OA has not been elucidated. Therefore, the present study was designed to investigate the potential linkage between common variants of the TGFA gene with knee OA in a large sample of Han Chinese individuals. Methods: We conducted a case-control study, including 338 knee OA patients and 985 unrelated healthy controls using both single nucleotide polymorphism (SNP) markers and haplotype-based analyses to examine the genotypic and allelic distribution of 19 tagging SNPs. Results: We identified a significant association between the SNP rs2862851 and disease status of knee OA (p=0.000314, OR=1.40). Allelic analyses showed that the T allele of this SNP significantly elevated the risks of OA. This result was replicated in genotypic association analyses. In addition, haplotype-based analyses have also identified a strong association signal between one haplotype block, including rs2862851, and the disease status of knee OA (p<0.00001). Conclusion: Our findings suggest that the rs2862851 allele of the TGFA gene may significantly contribute to the susceptibility to knee OA in the Han Chinese population.
机译：目的:骨关节炎(OA)是一个复杂的退化性关节疾病,环境和遗传贡献的因素。髋关节OA之间建立了联系磁化率和遗传标记中然而,TGFA基因的关系标记与膝关节OA尚未阐明。因此,本研究旨在探讨常见之间潜在的联系TGFA基因的变异与膝关节OA大汉族的样本个体。进行了病例对照研究,包括338年膝OA患者和985名健康无关控制使用单核苷酸多态性(SNP)标记和haplotype-based分析检查基因型和等位基因19标记snp的分布。发现了一个重要的关联膝关节OA的SNP rs2862851和疾病状况(p = 0.000314, = 1.40)。显著的T等位基因SNPOA的风险升高。复制的基因型的关联分析。此外,haplotype-based分析也发现了一个强大的协会之间的信号一个单体型块,包括rs2862851和膝关节OA的疾病状态(p < 0.00001)。结论:我们的研究结果表明rs2862851 TGFA基因的等位基因易感性显著贡献膝关节OA的汉族人口。

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