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Abstract：
Achilles tendon pathology (ATP) is a degenerative condition which exhibits excessive tenocyte apoptosis. Tumour necrosis factor receptor 1 (TNFR1), caspase-3 (CASP3) and caspase-8 (CASP8) are important regulators of apoptosis. To date, the effects of variation within the genes for TNFR1 and CASP3 as risk factors for ATP have not been described. There is evidence that two single nucleotide polymorphisms (SNPs) within the CASP8 gene are associated with ATP, but only in populations from the Southern Hemisphere. The primary aim of this study was to determine whether SNPs within the TNFRSF1A and CASP3 genes were associated with ATP in British Caucasians. We additionally sought to determine whether copy number variation (CNV) within the CASP8 gene was associated with ATP. We recruited 262 (131 ATP cases and 131 asymptomatic controls) Caucasian participants for this genetic association study and used quantitative PCR with chi-squared (χ(2)) tests and ANOVA to detect significant associations. For our entire cohort, we found no association between the TNFRSF1A rs4149577 (p=0.561), CASP3 rs1049253 (p=0.643) and CASP8 variants (p=0.219) and ATP. Likewise, when we tested potential interactions between gender, genotype and the risk of ATP, we found no association with the variants investigated. In conclusion, the TNFRSF1A, CASP3 and CASP8 gene variants were not associated with ATP in British Caucasians.
摘要：
跟腱病理（ATP）是一种退行性疾病，表现出过度的肌腱细胞凋亡。肿瘤坏死因子受体1(TNFR1),caspase-3(CASP3)和caspase-8(CASP8)是细胞凋亡的重要调控因子。迄今为止,尚未描述TNFR1和CASS3基因内变异作为ATP危险因素的影响.有证据表明，CASP8基因内的两个单核苷酸多态性（SNP）与ATP，但仅限于南半球的人群。这项研究的主要目的是确定TNFRSF1A和CASP3基因中的SNP是否与英国白种人的ATP相关。我们还试图确定CASP8基因内的拷贝数变异(CNV)是否与ATP相关。我们招募了262名（131例ATP病例和131例无症状对照）高加索参与者进行这项遗传关联研究，并使用定量PCR与卡方（χ（2））检验和方差分析来检测显着关联。对于我们整个队列来说，我们发现TNFRSF1Ars4149577之间没有关联(p=0.561)，CASP3rs1049253(p=0.643)和CASP8变异体(p=0.219)和ATP。同样，当我们测试性别之间的潜在互动时，基因型和ATP的风险，我们发现与所研究的变异没有关联.总之,TNFRSF1A,在英国白种人中，CASP3和CASP8基因变体与ATP无关。
