Association of tumor necrosis factor receptor-associated protein 1 gene copy number variation with susceptibility and clinical characteristics of systemic lupus erythematosus / 中华风湿病学杂志

Objective To explore whether tumor necrosis factor receptor-associated protein 1 (TRAP1)gene copy number variation was associated with susceptibility and clinical characteristics of systemic lupus erythematosus (SLE).Methods The study enrolled 304 SLE patients and 391 healthy controls.They were used to investigate the association between TRAP1 gene copy number variation and SLE susceptibility.Then,304 SLE patients were divided into copy number=2 group and copy number＞2 group to study the association between TRAP1 gene copy number variation and disease activity or clinical characteristics of SLE.AccuCopyTM Kit was used to detect the TRAP1 gene copy number.Data analyses were performed by SPSS 10.01 software.The suitable method was selected among t test,rank sum test and x2 test for analysis based on the data type and distribution,univariate and multivariate logistic regression analysis were performed to investigate the associ-ation between TRAP1 gene copy number variation and susceptibility and clinical characteristics of SLE.Results The copy number variation of TRAP1 gene showed an association with the susceptibility to SLE crude OR=5.257,95％CI (1.108,24.937),P=0.037;the adjusted OR=5.578,95％CI (1.172,26.556),P=0.031].There was no association between TRAP1 gene copy number variation and SLE disease activity index (SLEDAI) score (Z=-0.117,P=0.907).The copy number variation of TRAP1 gene had a marginal association with skin lesions in SLE [OR=0.130,95％CI (0.016,1.069),P=0.058],but it disappeared after adjusting for potential confounders [OR=0.288,95％CI (0.029,2.831),P=0.286,PBH=0.808].There was no correlation between TRAP1 gene copy number variation and arthritis,alopecia,oral ulcers,fever,hematologic disorder,lupus nephritis as well as photosensitivity in SLE [x2=0.751,OR=1.234,95％CI (0.767,1.988),P=0.386].No multiplicative interaction was found between TRAP1 gene copy number variation and age or body mass index (BMI) [age:x2=0.751,OR=1.234,95％CI (0.767,1.988),P=0.386;BMI:x2=0.282,OR=1.172,95％CI(0.652,2.109),P=0.596].Conclusions The copy number variation of TRAP1 gene may be associated with susceptibility to SLE.Increased TRAP1 gene copy number may be a risk factor for SLE.

Progress in research on TLR7 gene single nucleotide polymorphisms and copy number variations in autoimmune diseases / 中华医学遗传学杂志

Autoimmune diseases (AID) are a group of complex disorders due to antibodies acting on self-antigens causing damage to the body. AID has long been considered as the outcome of genetic and environmental interactions. In recent years, studies have shown that increased susceptibility to AID may be associated with single nucleotide polymorphisms and copy number variations of Toll like receptor 7 (TLR7) gene, which provided a clue to further understanding of the pathogenesis of AID. This paper provides a review of the recent advances in understanding of the roles of TLR7 gene single nucleotide polymorphisms and copy number variations in AID.

Changes and clinical significance of serum 25-hydroxy-vitamin D levels in rheumatoid arthritis / 中华风湿病学杂志

Objective To determine the serum level of 25-hydroxyvitamin D[25(OH)D] in rheumatoid arthritis (RA) patients and to assess the association of 25(OH)D with clinical presentations.Methods Serum 25(OH)D levels were detected by enzyme-linked immunosorbent assay (ELISA) in 130 cases with RA and 80 healthy controls.The detailed clinical data of the RA patients were recorded and bone mineral density (BMD) were measured by dual-energy X-ray absor-ptiometry (DXA).Sharp score of both hands were measured for evaluating the effects of 25(OH)D on bone erosion.T-test and one-way ANOVA test were used for data analysis,and x2 test was used to compare the differences between groups.Pearson's test was adsopted for correlation analysis.Muhi-variate analysis and Logistic analysis were carried out for risk factors identification.Results ① The serum levels of 25 (OH)D were markedly lower in the RA group than the control group [(17±6) ng/ml vs (23±6) ng/ml,t=-6.624,P＜0.01],while cases of 25(OH)D insufficiency/deficiency in the RA group were more than the control group (98.5％ vs 81.5％,x2=26.291,P＜0.01); ② Negative correlation was detected between 25(OH) D levels and the following:duration of morning stiffness,tender joint count (TJC),swollen joint count (SJC),erythrocyte sedimentation rate (ESR),C-reactive protein (CRP),health assessment questionnaire (HAQ) of the patients with RA (r=-0370,-0.307,-0.243,-0.369,-0.175,-0.381,both P＜0.05),respectively; ③ 25 (OH)D levels were signific-antly lower in group with moderate and severe disease activity than in group with stable or low disease activity (both P＜0.05); Insufficiency/deficiency of 25 (OH)D was the risk factor for disease activity by multiple regression analysis (b=-0.46,P=0.029); ④ No statistically significant association was detected between 25(OH)D and degree of bone erosion in RA (P＞0.05); ⑤ BMD was classified into three groups:normal,osteopenia and osteoporosis,and significant differences of serum 25(OH)D levels were found by compared with each group (P＜0.01).Normal serum 25 (OH)D level was a protective factor for RA-induced osteoporosis by Logistic rcgression analysis (OR=0.898,95％CI 0.830-0.972,P=0.008).Conclusion Significantly low 25 (OH)D level could be found in patients with RA.Negative correlation is detected between 25 (OH)D level and disease activity and osteoporosis respectively in patients with RA.Insufficiency/deficiency of 25 (OH)D is the risk factor for disease activity and RA-induced osteoporosis.