Genome wide association studies in inflammatory myopathy and
Genome wide association studies in inflammatory myopathy and
Genome wide association studies in inflammatory myopathy and
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• The first GWAS <strong>in</strong> DM confirmed a strong signal <strong>in</strong> the MHC region as<br />
expected, but no non-MHC SNPs met GWAS significance <strong>in</strong> this 1178 patient<br />
sample.<br />
• However, assessment of 140 non-MHC SNPs associated with AID <strong>in</strong>dicates<br />
that DM shares many genetic features with these other diseases <strong>and</strong> suggests<br />
the presence of additional novel risk loci that require further study <strong>and</strong><br />
confirmation <strong>in</strong> DM.<br />
• B lymphoid tyros<strong>in</strong>e k<strong>in</strong>ase: BLK<br />
Summary<br />
• Chemok<strong>in</strong>e (C-C motif) lig<strong>and</strong> 21: CCL21<br />
• Prote<strong>in</strong> tyros<strong>in</strong>e phosphatase non-receptor type 2: PTPN2<br />
• Signal transducer <strong>and</strong> activator of transcription 4: STAT4<br />
• Interleuk<strong>in</strong>-2 receptor alpha: IL2RA<br />
• ER-resident transmembrane prote<strong>in</strong>: ORMDL3<br />
• SH2B adapter prote<strong>in</strong> 3: SH2B3<br />
• Interferon regulatory factor 5: IRF5<br />
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