Genome wide association studies in inflammatory myopathy and

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Manhattan Plot of DM GWAS Associations Showing a Major MHC Signal 80 genotyped SNPs across the MHC region, but no other SNPs showed Whole genome significance (orange line) 22
Published GWAS loci for AID – Associations with DM (P ≤ 0.015) Gene Chr / Position SNP Marker in Dataset SNP Marker not in Dataset : LD to Dataset Marker Uncorr P B lymphoid tyrosine kinase: BLK 8 / 11381382 rs2736340 0.000065 Chemokine (C-C motif) ligand 21: CCL21 9 / 34727828 rs2492358 rs951005:1.0 0.000209 CCL21 9 / 34733681 rs951005 0.00031 Protein tyrosine phosphatase nonreceptor type 2: PTPN2 Signal transducer and activator of transcription 4: STAT4 18 / 12799340 rs1893217 0.00289 2 / 191672878 rs7574865 0.00496 Interleukin-2 receptor alpha: IL2RA 10 / 6146272 rs7072793 rs706778:0.935 0.00727 ER-resident transmembrane protein: ORMDL3 17 / 35319766 rs2290400 0.00997 SH2B adapter protein 3: SH2B3 12 / 110492139 rs653178 rs3184504:1.0 0.0138 SH2B3 12 / 110368991 rs3184504 0.0149 Interferon regulatory factor 5: IRF5 7 / 128381419 rs10488631 0.015 All of these associations are novel in myositis - No significant differences in these loci were noted between males and females or between adult and juvenile DM cases 23
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 and 8: Classification of myositis accordin
Page 9 and 10: UK-Adult Onset Myositis Immunogenet
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: Populations Studied Cases Controls
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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