Secretory phospholipase A2 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 A₂ (sPLA₂). Increased tumor number in mice was correlated with low levels of sPLA₂ expression and the presence of truncating mutations within the sPLA₂ gene. In an attempt to determine whether any genetic alterations in the sPLA₂ gene were associated with the expression of FAP in man, we investigated the genetic structure of sPLA₂ 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 sPLA₂ gene were identified, suggesting that human sPLA₂ is not associated with phenotypic variation in FAP. Received: 25 March 1996 / Revised: 9 April 1996