中文摘要：

全身的豺狼座 erythematosus (SLE ) 是复合基因，全身的、自体免疫的疾病。拷贝数字变体(CNVS ) 被发现了与很多复杂混乱被联系。我们拿了当前的学习在中国汉人口探索在 genomic CNVS 和 SLE 之间的潜在的协会。在发现阶段，七个 SLE 病人在屏蔽测试与高密度的比较 genomic 杂交 microarrays 被检查因为 SLE 联系了 CNVS。在确认阶段，然后， 135 个 SLE 病人和 219 个匹配的健康题目被 AccuCopy 技术为基因 HLA-DRB5 的 CNVS 调查。量的聚合酶链反应被执行在 SLE 病人决定拷贝数字(CN ) 和 HLA-DRB5 的 mRNA 水平。尽管在在 SLE 病人的 CN 删除组和 CN 正常的组之间的 HLA-DRB5 的 mRNA 水平不是统计上积极的( P = 0.46 )，我们的结果仍然比在健康控制在 SLE 病人显示出 HLA-DRB5 的更多的 CN ( P = 3.98 業慮瑮愠摮爠'酞棙M敶洠摯汥漠?偔?挠摯湯?′敷敲瀠牥潦浲摥?敲灳'虡N敶祬?剏?ㄠ????‥??ㄠ???劳?倠吗？？

英文摘要：

Systemic lupus erythematosus （SLE） is a polygenic, systemic, autoimmune disease. Copy number variants （CNVS） have been discovered to be associated with a number of complex disorders. We undertook the current study to explore the potential associations between genomic CNVS and SLE in Chinese Han population. In the discovery stage, seven SLE patients were examined with the high-density comparative genomic hybridization microarrays in the screening test for SLE associated CNVS. Then, in the validation stage, 135 SLE patients and 219 matched healthy subjects were investigated for the CNVS of gene HLA-DRB5 by AccuCopyTM technol- ogy. Quantitative polymerase chain reaction was carried out to determine the copy number （CN） and mRNA level of HLA- DRB5 in SLE patients. Although the mRNA level of HLA- DRB5 between the CN deletion group and the CN normal group in SLE patients was not statistically positive （P = 0.46）, our results still showed more CN of HLA-DRB5 in SLE patients than in healthy controls （P = 3.98×10^-6）. Odds ratio for CN deletion was 0.38 （95% confidence interval （C1）, 0.23-0.61, P = 7.79×10^-5） and for CN duplication was 1.89 （95% CI, 0.56-7.66, P = 0.37）, respectively. These findings indicated that CNVS of HLA-DRB5 was associated with the risk of SLE, and CN deletion appeared to be protective for SLE.