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. Author manuscript; available in PMC: 2018 Oct 1.
Published in final edited form as: Arthritis Rheumatol. 2017 Oct;69(10):2062–2068. doi: 10.1002/art.40193

Figure 2. Genetic and expression studies demonstrate dysregulated adipsin in SSc-PAH.

Figure 2

A. List of 7 SNPs in the adipsin (CFD) region on chromosome 19 genotyped in a SSc GWA study (dbGAP accession phs000357.v1.p1). Minor allele frequencies for patients who underwent echocardiography are grouped by presence of echo PASP >40 or not. Note that 4/7 SNPs in the region are associated with SSc-PAH. Data derived from dbGAP accession phs000357.v1.p1 B. 3 of 4 associated SNPs are whole blood eQTLs. C. Expression of adipsin is elevated in lcSSc patients and more so in lcSSc patients with PAH (data derived from GEO GSE19617)

Abbreviations. SNP = single nucleotide polymorphism. CFD = complement factor D. PASP = pulmonary artery systolic pressure. eQTL = expression quantitative trait loci SSc = systemic sclerosis, lcSSc = limited cutaneous systemic sclerosis. PAH = pulmonary arterial hypertension. PBMCs = peripheral blood mononuclear cells. FVC = forced vital capacity. DLCO = diffusion of lung carbon monoxide.