Genome wide association studies in inflammatory myopathy and

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Methodological Issues in Pre-2000 Studies • Small sample size • Ethnic heterogeneity – Caucasian, Jewish & Hispanic patients grouped together to gain statistical power in case:control comparisons. • Sub-type heterogeneity – DM, PM, JDM & IBM pooled to gain statistical power. – Ab subgroups
UK-Adult Onset Myositis Immunogenetic Collaboration (AOMIC) – RGC/WER0 • Only Caucasians studied • Phenotype details, serum and DNA • Myositis probable/definite according to Bohan/Peter • PM (n=121) • DM (n=110) • CTD/overlap (n=71) • Controls (n=537) • [2000 – 2004 ~230 cases]
Page 1 and 2: IIM GWAS reveals genetic risk facto
Page 3 and 4: Polymyositis Dermatomyositis Idiopa
Page 5 and 6: Early genetics - HLA region
Page 7: Classification of myositis accordin
Page 11 and 12: log OR & 95% confidence interval HL
Page 13 and 14: Myositis-specific autoantibodies My
Page 15 and 16: Dermatomyositis (DM) • Myositis w
Page 17 and 18: GWAS approaches 1 • MYOGEN (UK/EU
Page 19 and 20: Covariate 2 Multidimensional scalin
Page 21 and 22: Populations Studied Cases Controls
Page 23 and 24: Published GWAS loci for AID - Assoc
Page 25 and 26: • The first GWAS in DM confirmed
Page 27 and 28: Total number of participants recrui
Page 29: • Hector Chinoy - Musculoskeletal

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