To determine whether the recently identified FPR mutations in LJP patients are responsible for selective loss of receptor-mediated functions, we prepared and analyzed RBL-2H3 cells expressing FPR bearing Phe110 to Ser (FPR-F110S) or Cys-126 to Trp (FPR-C126W) replacement as well as a FPR double mutant (FPR-FSCW).
These data do not support the hypothesis that the FPR1 SNPs c.329T>C and c.378C>G play an etiologic role in aggressive periodontitis, but do suggest that SNPs in the second extracellular loop may be etiologically important.
In order to determine if this decreased response is due to a genetic variation in the receptor, we directly compared DNA encoding the FMLP receptor from controls matched for gender and race and LJP patients by single-strand conformation polymorphism analysis (SSCP).