Role of genetic polymorphisms in ACE and TNF-alpha gene in sarcoidosis: a meta-analysis

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.

Publication types

  • Meta-Analysis
  • Systematic Review

MeSH terms

  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Peptidyl-Dipeptidase A / genetics*
  • Polymorphism, Genetic*
  • Sarcoidosis / ethnology
  • Sarcoidosis / genetics*
  • Tumor Necrosis Factor-alpha / genetics*


  • Tumor Necrosis Factor-alpha
  • Peptidyl-Dipeptidase A