Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still’s Disease

<div>Genome-wide association scan for AOSD. Manhattan plot shows association between 645,983 SNPs and AOSD. Each dot represents a –log<sub>10</sub> (<svg height="8.68572pt" id="M63" style="vertical-align:-0.0498209pt" version="1.1" viewbox="-0.0498162 -8.6359 8.15071 8.68572" width="8.15071pt" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink"><g transform="matrix(.013,0,0,-0.013,0,0)"><path d="M600 480C600 590 528 650 384 650H143L137 622C222 614 225 607 210 531L130 127C113 41 106 36 23 28L17 0H294L300 28C204 36 195 42 212 127L243 284L314 263C327 263 339 263 352 264C465 271 600 337 600 480ZM508 481C508 351 402 304 329 304C289 304 265 311 250 317L295 559C302 594 310 606 323 611C335 616 350 619 367 619C455 619 508 573 508 481Z"></path></g></svg> value) derived with a logistic regression model adjusted by sex and principal components (PCs) in 70 AOSD cases and 688 population controls. The red horizontal line marks the level of significance suggestive of association (<svg height="9.2729pt" id="M64" style="vertical-align:-0.6370001pt" version="1.1" viewbox="-0.0498162 -8.6359 55.3348 9.2729" width="55.3348pt" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink"><g transform="matrix(.013,0,0,-0.013,0,0)"><path d="M600 480C600 590 528 650 384 650H143L137 622C222 614 225 607 210 531L130 127C113 41 106 36 23 28L17 0H294L300 28C204 36 195 42 212 127L243 284L314 263C327 263 339 263 352 264C465 271 600 337 600 480ZM508 481C508 351 402 304 329 304C289 304 265 311 250 317L295 559C302 594 310 606 323 611C335 616 350 619 367 619C455 619 508 573 508 481Z"></path></g><g transform="matrix(.013,0,0,-0.013,11.658,0)"><path d="M512 -3V55L134 254V256L512 456V514L75 281V230L512 -3Z"></path></g><g transform="matrix(.013,0,0,-0.013,22.921,0)"><path d="M384 0V27C293 34 287 42 287 114V635C232 613 172 594 109 583V559L157 557C201 555 205 550 205 499V114C205 42 199 34 109 27V0H384Z"></path></g><g transform="matrix(.013,0,0,-0.013,32.066,0)"><path d="M528 54L331 254L528 455L492 493L294 291L96 493L60 455L257 254L60 54L96 16L294 217L492 16L528 54Z"></path></g><g transform="matrix(.013,0,0,-0.013,42.603,0)"><path d="M384 0V27C293 34 287 42 287 114V635C232 613 172 594 109 583V559L157 557C201 555 205 550 205 499V114C205 42 199 34 109 27V0H384Z"></path></g><g transform="matrix(.013,0,0,-0.013,48.843,0)"><path d="M241 635C89 635 35 457 35 312C35 153 89 -12 240 -12C390 -12 443 166 443 312C443 466 390 635 241 635ZM238 602C329 602 354 454 354 312C354 172 330 22 240 22C152 22 124 173 124 313S148 602 238 602Z"></path></g></svg><sup>-6</sup>). The top 4 AOSD-associated variants are labeled with the name of the nearest gene(s). <i>CSF1</i>: colony-stimulating factor 1; <i>RPL3P8</i>: ribosomal protein L3 pseudogene 8; <i>LOC100419782</i>: pseudogene; <i>TCF4</i>: transcription factor 4.</div>

Journal of Immunology Research

fig1

Figure 1

Figure 1: Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still’s Disease 