Medica Igor, Kastrin Andrej, Maver Ales, Peterlin Borut
Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, Slovenia.
J Hum Genet. 2007;52(10):836-847. doi: 10.1007/s10038-007-0185-7. Epub 2007 Sep 4.
A great number of association studies have been performed to identify the genes involved in the etiology and prognosis of sarcoidosis. We performed a systematic review of case-control studies through the PubMed database and evaluated them for a possible inclusion into a meta-analysis in order to assess whether the reported genetic polymorphisms are the risk factors of sarcoidosis. Case-control studies with clear diagnostic criteria and interventions were included. Only investigations of a single polymorphism/gene involvement in sarcoidosis reported more than five times were selected. Aggregating data from 12 studies on ID/ACE polymorphisms, the odds ratio (OR) for sarcoidosis, if the polymorphism was considered under the dominant genetic model, was not significantly increased: 1.19 (95% CI 0.98-1.43); OR under the recessive model was 1.20 (95% CI 0.98-1.46). In seven case-control studies on -308/TNF-alpha polymorphism, the OR for sarcoidosis if the polymorphism considered under the dominant genetic model was significantly increased at 1.47 (95% CI 1.03-2.08); the OR under the recessive model was 1.39 (95% CI 0.67-2.90). In conclusion, the results showed that the TNF-alpha genotype could be a significant risk factor for sarcoidosis, whereas the risk of sarcoidosis due to the ACE genotype was not substantially elevated.
已经进行了大量的关联研究,以确定参与结节病病因和预后的基因。我们通过PubMed数据库对病例对照研究进行了系统评价,并评估它们是否可能纳入荟萃分析,以评估所报道的基因多态性是否为结节病的危险因素。纳入了具有明确诊断标准和干预措施的病例对照研究。仅选择了对结节病中单个多态性/基因参与情况的研究报道超过五次的研究。汇总12项关于ID/ACE多态性研究的数据,如果在显性遗传模型下考虑该多态性,结节病的优势比(OR)没有显著增加:1.19(95%CI 0.98-1.43);隐性模型下的OR为1.20(95%CI 0.98-1.46)。在7项关于-308/TNF-α多态性的病例对照研究中,如果在显性遗传模型下考虑该多态性,结节病的OR显著增加至1.47(95%CI 1.03-2.08);隐性模型下的OR为1.39(95%CI 0.67-2.90)。总之,结果表明TNF-α基因型可能是结节病的一个重要危险因素,而ACE基因型导致结节病的风险没有大幅升高。