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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Published GWAS loci for AID –<br />
Associations with DM (P ≤ 0.015)<br />
Gene<br />
Chr / Position<br />
SNP Marker<br />
<strong>in</strong> Dataset<br />
SNP Marker<br />
not <strong>in</strong> Dataset<br />
: LD to<br />
Dataset<br />
Marker<br />
Uncorr<br />
P<br />
B lymphoid tyros<strong>in</strong>e k<strong>in</strong>ase: BLK 8 / 11381382 rs2736340 0.000065<br />
Chemok<strong>in</strong>e (C-C motif) lig<strong>and</strong> 21:<br />
CCL21<br />
9 / 34727828 rs2492358 rs951005:1.0 0.000209<br />
CCL21 9 / 34733681 rs951005 0.00031<br />
Prote<strong>in</strong> tyros<strong>in</strong>e phosphatase nonreceptor<br />
type 2: PTPN2<br />
Signal transducer <strong>and</strong> activator of<br />
transcription 4: STAT4<br />
18 / 12799340 rs1893217 0.00289<br />
2 / 191672878 rs7574865 0.00496<br />
Interleuk<strong>in</strong>-2 receptor alpha: IL2RA 10 / 6146272 rs7072793 rs706778:0.935 0.00727<br />
ER-resident transmembrane prote<strong>in</strong>:<br />
ORMDL3<br />
17 / 35319766 rs2290400 0.00997<br />
SH2B adapter prote<strong>in</strong> 3: SH2B3 12 / 110492139 rs653178 rs3184504:1.0 0.0138<br />
SH2B3 12 / 110368991 rs3184504 0.0149<br />
Interferon regulatory factor 5: IRF5 7 / 128381419 rs10488631 0.015<br />
All of these <strong>association</strong>s are novel <strong>in</strong> myositis - No significant differences <strong>in</strong> these loci<br />
were noted between males <strong>and</strong> females or between adult <strong>and</strong> juvenile DM cases<br />
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