Secretory phospholipase A(2) does not appear to be associated with phenotypic variation in familial adenomatous polyposis

Recent studies in mice have provided strong evidence for a modifier gene that is capable of effecting the expression of the mouse equivalent of familial adenomatous polyposis (FAP). A candidate gene has been proposed, namely secretory phospholipase A(2) (sPLA(2)). Increased tumor number in mice was correlated with low levels of sPLA(2) expression and the presence of truncating mutations within the sPLA(2) gene. In an attempt to determine whether any genetic alterations in the sPLA(2) gene were associated with the expression of FAP in man, we investigated the genetic structure of sPLA(2) in 97 polyposis coli patients presenting with various disease phenotypes, and its expression in 8 FAP patients displaying markedly different disease characteristics. In the current study no inactivating mutations in the sPLA(2) gene were identified, suggesting that human sPLA(2) is not associated with phenotypic variation in FAP.