title: The MetaFMF website: a high quality tool for meta-analysis of FMF.
abstract: We present here the MetaFMF database (freely accessible at http://fmf.igh.cnrs.fr/metaFMF/index_us.html) that attempts to gather and unify, in a common resource, data on phenotype-genotype correlation in familial Mediterranean fever (FMF). A single accession form, including a large number of quality controls, has been implemented such that data, collected worldwide, are included in an homogeneous manner. The inclusion criterion has the objective to avoid interpretational bias: patients will be included only if they bear at least two mutations. The clinical form has been set up by an International editorial board (12 FMF expert centres), which guarantees the validity of the data. Data are anonymous and submitted by a secure interface, in which the researcher is logged in with a specific ID and password. A pilot study on 211 patients has shown the feasibility and relevance of this project. We anticipate that the use of MetaFMF will enable reliable assessment of phenotype-genotype correlations in FMF, and define a set of severe versus mild mutations/genotypes. It should also highlight reasons for previous inconsistencies in such correlations.
authors.affiliation: Institute of Human Genetics-CNRS UPR 1142, 141, rue de la Cardonille, 34396 Montpellier Cedex 5, France. denis.pugnere@igh.cnrs.fr
authors.forename: Denis
authors.initials: D
authors.lastname: Pugnère
authors.forename: Manuel
authors.initials: M
authors.lastname: Ruiz
authors.forename: Cyril
authors.initials: C
authors.lastname: Sarrauste de Menthière
authors.forename: Benjamin
authors.initials: B
authors.lastname: Masdoua
authors.forename: Jacques
authors.initials: J
authors.lastname: Demaille
authors.forename: Isabelle
authors.initials: I
authors.lastname: Touitou
mesh_terms: D003625:Data Collection; D016208:Databases, Factual; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics*; D005838:Genotype; D006801:Humans; D016247:Information Storage and Retrieval; D020407:Internet; D015201:Meta-Analysis as Topic; D009154:Mutation; D010641:Phenotype; D011786:Quality Control; D012984:Software