Identification of Genes Involved in Juvenile Idiopathic Arthritis by Wholel Exome Sequencing (GenesinJIA)
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Juvenile idiopathic arthritis (JIA) is considered to be a multifactorial disease caused by a combination of environmental factors and predisposing genetic factors. Twins studies found a strong heritability (strong genetic factors) but genetic studies such association studies of large cohorts of patient (GWAS or Genome Wide Association Study) have elucidated less than 20 % of the genetic basis of JIA. The vision of the genetics of multifactorial diseases has recently changed revealing a large clinical and genetic heterogeneity of these diseases. Indeed, the advent of next-generation sequencing identified non-multifactorial genetic hereditary disease related to mutations in genes having strong effect on the onset of the disease without real impact of environmental factors among the so called "multifactorial diseases" (Parkinson's, diabetes, osteoarthritis, Alzheimer's, hypertension ...)The investigators propose to study 30 families with several forms of JIA by next-generation sequencing. Identifying the genetic basis of JIA in these families will help to better understand the physiopathology of this disease and may help to the identification of novel therapeutic targets for other patients with JIA.
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Layout table for eligibility information
Ages Eligible for Study:
1 Month to 40 Years (Child, Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
AJI oligoarticular form <4 joints
AJI Polyarticular form> 4 joints
AJI Forms systemic arthritis
duration For more than six weeks
Onset of symptoms before the age of 16 years
Or rheumatoid factor or ANA + or CCP +Acceptation of both parenth to participate to the research and to perfom blood samples for genetic studies
The (the) patient (e) is under tutorship or curatorship
The (the) patient (e) is under judicial protection
The (the) patient (e), or his parents, refuses to sign the consent
It is impossible to give (the) patient (e) information lit