title: [Childhood-onset systemic lupus erythematosus: polygenic or monogenic disorder?].
abstract: Systemic lupus erythematosus (SLE) results from the complex interaction between genetic and environmental factors. It is usually thought that SLE results from the combined effect of variants in a large number of genes, and several genome whole association studies (GWAS) have identified a great number of single-nucleotide polymorphisms (SNP) associated with SLE. However, the loci identified so far can account for only about 15% of the heritability of SLE. Recently, some Mendelian variants of lupus have been identified, especially in childhood-onset SLE. Children present with more severe illness, a lower sex-ratio female:male and a higher genetic contribution compared to adults with SLE. pSLE phenotype heterogeneity could be related to genetic heterogeneity, and pSLE in part might consist in a collection of rare, genetically distinct monogenic disorders.
authors.affiliation: Service d'immunologie et rhumatologie pédiatrique, hôpital Necker, 149, rue de Sèvres, 75015 Paris, France. brigitte.bader-meunier@nck.aphp.fr
authors.forename: B
authors.initials: B
authors.lastname: Bader-Meunier
authors.forename: N
authors.initials: N
authors.lastname: Jeremiah
authors.forename: F
authors.initials: F
authors.lastname: Rieux-Laucat
mesh_terms: D000293:Adolescent; D020274:Autoimmune Diseases of the Nervous System / Q000150:complications / Q000235:genetics; D002648:Child; D003165:Complement System Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D016898:Interferon-alpha / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D009154:Mutation; D009421:Nervous System Malformations / Q000150:complications / Q000235:genetics
chemical_list: D016898:Interferon-alpha; D003165:Complement System Proteins