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The Common Acid Sphingomyelinase Polymorphism P.G508r Is Associated With Self-Reported Allergy, Martin Reichel, Tanja Richter-Schmidinger, Christiane Muhle, Cosima Rhein, Panagiotis Alexopoulos, Sibylle G. Schwab, Erich Gulbins, Johannes Kornhuber
The Common Acid Sphingomyelinase Polymorphism P.G508r Is Associated With Self-Reported Allergy, Martin Reichel, Tanja Richter-Schmidinger, Christiane Muhle, Cosima Rhein, Panagiotis Alexopoulos, Sibylle G. Schwab, Erich Gulbins, Johannes Kornhuber
Illawarra Health and Medical Research Institute
Background: Acid sphingomyelinase (ASM) is a key regulator of ceramide-dependent signalling pathways. Among others, activation of ASM can be induced by CD95 or cytokine signalling and by cellular stress resulting from inflammation or infection. Increased ASM activity was observed in a variety of human diseases including inflammatory and neuropsychiatric disorders. We hypothesized that basal ASM activity might influence the susceptibility for common human diseases. Methods: The general health condition of 100 young people was assessed using a questionnaire. The ASM polymorphism rs1050239 (c.1522G>A; encoding p.G508R) was determined from genomic DNA. Activities of secretory (S-) and lysosomal (L-) ASM were …