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IFNA17 and Sarcoidosis

The association between IFNA17 (HGNC:5422) and sarcoidosis (MONDO_0019338) was initially reported in a Japanese cohort where a polymorphism, c.551T>G (p.Ile184Arg) (PMID:15004750), was significantly associated with increased disease risk among 102 patients. However, a subsequent study in a Greek cohort of 89 patients failed to reproduce these findings (PMID:20722470), thereby introducing conflicting genetic evidence for the association.

Functional evaluations, including a bacterial model study (PMID:14728680), have provided insight into IFNA17 biology, although these assays do not directly address the pathogenesis of sarcoidosis. Overall, while genetic evidence based on the reported variant suggests a potential role for IFNA17, the lack of consistent replication underscores a disputed association. Key take‑home sentence: Clinicians should interpret IFNA17 genetic findings with caution when considering sarcoidosis risk in diagnostic or commercial settings.

References

  • Human genetics • 2004 • Association between IFNA genotype and the risk of sarcoidosis PMID:15004750
  • Genetic testing and molecular biomarkers • 2010 • Genotyping in pulmonary sarcoidosis: Lack of replication for IFNA17 association PMID:20722470
  • European journal of biochemistry • 2004 • Generation and characterization of functional mutants in the translation initiation factor IF1 PMID:14728680

Evidence Based Scoring (AI generated)

Gene–Disease Association

Disputed

Initial association in 102 patients (PMID:15004750) contrasted by lack of replication in 89 patients (PMID:20722470), leading to conflicting evidence.

Genetic Evidence

Moderate

The reported variant c.551T>G (p.Ile184Arg) is based on a single study with positive association, yet inconsistent replication limits its conclusiveness.

Functional Evidence

Limited

Functional studies, including bacterial models, provide insights on IFNA17 function but do not directly support a pathogenic mechanism in sarcoidosis.