Systemic Scleroderma
A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.
More details about the regions are available here.
| Region | Position | Genes | Markers | Diseases |
|---|---|---|---|---|
| SSC 2q32.3 | chr2:190984302-191133220 | STAT4 | rs11893432 | |
| SSC 3p14.3 | chr3:58099168-58563570 | PXK DNASE1L3 | rs4681851 rs35677470 | |
| SSC 3q25.33 | chr3:159883974-160033824 | IQCJ-SCHIP1 IL12A SCHIP1 | rs77583790 | |
| SSC MHC | chr6:31289383-31419380 | HLA-B | rs2442719 | |
| SSC 6q21 | chr6:106150148-106380042 | ATG5 | rs9373839 | |
| SSC 7q32.1 | chr7:128911686-129138653 | IRF5 | rs62478615 |
| Study ID | Title | Publication | Diseases |
|---|---|---|---|
| 034 | Immunochip | Mayes Am. J. Hum. Genet., 2014-01-02 |