José Ferreres, Spain
Hospital Clínico y Universitario de Valencia Intensive Care UnitAuthor Of 1 Presentation
ASSOCIATION OF VARIANTS OF THE COMPLEMENT PATHWAY ASSOCIATED WITH DYSREGULATED COMPLEMENT ACTIVATION WITH PNEUMOCOCCAL PNEUMONIA IN ADULTS (ID 658)
Abstract
Background
Introduction: Variants at complement genes predispose to infections and/or hyperinflammation (complementopathies). We analyzed the association of variants at complement genes with susceptibility to community-acquired pneumonia (CAP).
Methods
Methods. Common variants at the genes C2, C3, CFH and CFB associated with several complementopathies; C2 Del28bp, C5 p.V802I and CFH p.E936D, predisposing to infectious diseases; Copy number variation (CNV) at C4 (C4A, C4B, C4S and C4L). Taqman SNP genotyping assays and Taqman Copy Number assays. 932 adults with CAP (356 had pneumococcal CAP -P-CAP) and 851 controls.
Results
Results. The rs2230199 (C3102R) alleles and genotypes associated with CAP (p=0.000005, OR 1.6) and P-CAP (p=0.0001, OR 1.72). The rs547154 at C2 (tagging FBR32Q) associated with CAP (p=0.002, OR 1.35) and P-CAP (p=0.0002, OR 1.59). No association of CNV at C4 or other variants with P-CAP was observed.
Conclusions
Conclusion. The functional variants C3102G and FB32R, which activate the alternative pathway more efficiently, have been previously associated to several complementopathies. It was hypothesized that the low activity C3102R and FB32Q variants could associate with bacterial infections. Our data show that the C3102R and FB32Q variants do associate with predisposition to pneumococcal CAP in adults.