title: IL-1 genes in myasthenia gravis: IL-1A -889 polymorphism associated with sex and age of disease onset.
abstract: Myasthenia gravis (MG) is a multifactorial autoimmune disease of the neuromuscular junction. We investigated the relation between four polymorphisms of the interleukin (IL)-1 gene cluster on 2q12-22, and MG susceptibility and clinical features in a large cohort of individuals. No polymorphism was associated with MG susceptibility. However, the IL-1A -889 CC genotype was associated with early disease onset (p=0.0044) in the whole MG group and the subgroup of CC males developed MG about 18 years earlier than males carrying other IL-1A -889 genotypes (p=0.022). This finding suggests that IL-1A is a disease modifier in MG, or is in linkage disequilibrium with an unknown locus on chromosome 2.
authors.affiliation: Neuromuscular Disease Department, National Neurological Institute, C. Besta, Milan, Italy.
authors.forename: Francesca L
authors.initials: FL
authors.lastname: Sciacca
authors.forename: Cinzia
authors.initials: C
authors.lastname: Ferri
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Veglia
authors.forename: Francesca
authors.initials: F
authors.lastname: Andreetta
authors.forename: Renato
authors.initials: R
authors.lastname: Mantegazza
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Cornelio
authors.forename: Diego
authors.initials: D
authors.lastname: Franciotta
authors.forename: Giovanni
authors.initials: G
authors.lastname: Piccolo
authors.forename: Vittorio
authors.initials: V
authors.lastname: Cosi
authors.forename: Anna P
authors.initials: AP
authors.lastname: Batocchi
authors.forename: Amelia
authors.initials: A
authors.lastname: Evoli
authors.forename: Luigi M E
authors.initials: LM
authors.lastname: Grimaldi
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D015331:Cohort Studies; D018572:Disease-Free Survival; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007375:Interleukin-1 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009157:Myasthenia Gravis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors
chemical_list: D007375:Interleukin-1