Systemic lupus erythematosus (SLE) is an autoimmune disease with heterogeneous clinical manifestations influenced by genetic and environmental factors. Five novel susceptibility genes (TNIP1, SLC15A4, ETS1, RasGRP3 and IKZF1) for SLE have been identified in a recent genome-wide association study of a Chinese Han population. This study investigated their relationships with disease subphenotypes, including renal nephritis, photosensitivity, antinuclear antibody (ANA), age at diagnosis, malar rash, discoid rash, immunological disorder, oral ulcer, hematological disorder, neurological disorder, serositis, arthritis and vasculitis. Significant associations were found for the single nucleotide polymorphism rs10036748 of TNIP1 with photosensitivity (odds ratio (OR) = 0.87, p = 0.01) and vasculitis (OR = 1.18, p = 0.04); rs10847697 of SLC15A4 with discoid rash (OR = 1.18, p = 0.02); rs6590330 of ETS1 with SLE of age at diagnosis <20 years (OR = 1.24, p = 8.91 x 10(-5)); rs13385731 of RasGRP3 with malar rash (OR = 1.20, p = 0.01), discoid rash (OR = 0.78, p = 0.02) and ANA (OR = 0.72, p = 0.004); rs4917014 of IKZF1 with renal nephritis (OR = 1.13, p = 0.02) and malar rash (OR = 0.83, p = 0.00038), respectively. The study suggested that these susceptibility genes might not only play important roles in the development of SLE, but also contribute to the complex phenotypes of SLE.

To develop the surgical model, composite mandibular tissue was transplanted at the same site. Revascularization was accomplished by end-to-end anastomosis of the facial vessels using standard microvascular techniques. A total of 33 vascularized composite mandibular tissue allografts were similarly performed between two incompatible strains of rabbit. In a control group of 9 animals, no immunosuppression was administered. All of these allografts were rejected acutely within 10 days after surgery. 7 allograft recipients were immunosuppressed with azathioprine and prednisone at 5 mg/kg.d and 2 mg/kg.d, respectively. Their allografts were also rejected acutely within 10 days. 17 allograft recipients were immunosuppressed with cyclosporine A (CsA). All allografts showed primary wound healing and hair growth and took on normal appearance. 8 of these recipients were given CsA at 5 mg/kg.d i.v. and their allografts were rejected at a mean time of 17.9 days. The remaining 9 recipients given CsA at 10 mg/kg.d i.v. rejected their allografts at a mean time of 36.1 days. In 3 of them, the rejection was reversed with CsA (20 mg/kg.d) injection for five days successfully, and one allograft survived more than 100 days. This pilot study suggests that the surgical model is reliable and that CsA will be useful as an immunosuppressive agent in the study of vascularized composite mandibular tissue allografts.