中文摘要：

目的在汉族人群中研究树突状细胞免疫受体（DICR）基因多态性与类风湿关节炎（RA）及其不同亚型的易感相关性。方法采用病例一对照研究法，选取年龄及性别相匹配的RA患者523例和健康对照510名；采用Taqman探针法检测DCIR基因rs2377422和rsl0840759位点单核苷酸多态性（SNP）；检测RA患者抗环瓜氨酸肽（CCe）抗体水平，分析DCIR基因多态性与不同亚型RA相关性；采用实时荧光定量聚合酶链反应（PCR）方法，定量检测DCIR在RA患者（233例）及健康者（71名）中mRNA表达水平，并进一步分析不同DCIR基因型对DCIR表达水平的影响。统计学处理采用r检验和多因素Logistic回归检验，2组间比较采用曼一惠特尼U检验。结果①DCIRSNPrs2377422与汉族RA发病明显相关（等位基因：OR1．26；95％CI1．06～1．50，P=0．005；基因型CC与TF＋TC：OR1．34；95％CI1．18—2．06，P=0．004）；⑦DCIRSNPrs2377422主要与抗CCP抗体阴性RA发病相关（等位基因：OR1．46；95％CI1．10。1．93，P=0．0091；基因型CC与TT＋Tc：OR1．58；95％CI1．01～2．47，P=O．043）；③和健康对照相比，RA患者外周血中DCIR基因mRNA水平显著增高（0．47＋0．10与0．17＋0．03，U=6502，P=0．00038），且携带DCIRrs2377422CC基因型的RA患者，其DCIR表达水平进一步明显增高（CC与1Tr＋TC：0．429＋0．069与0．238＋0．023，U=1861，P=0．002）。结论汉族人群中DCIRrs2377422多态性主要与抗CCP抗体阴性RA易感相关；RA患者DCIR基因表达水平明显增高；DCIRrs2377422多态性可明显影响DCIR基因的表达。

英文摘要：

Objective This work is aimed to investigate the possible association of dendritic cell immunoreceptor （DCIR） with rheumatoid arthritis （RA） susceptibility in Chinese Han population. Methods A total of 523 patients with RA and 510 healthy controls were genotyped for single-nucleotide polymorphism （SNP） rs2377422 and rs10840759. Association analyses were performed on the whole data set and on RA subsets based on the status of anti-cyclic citrullinated peptide antibody （CCP） in RA patients, Finally, we carried out the association analysis of rs2377422 with DCIR mRNA expression in RA patients. Statistical analysis used in this study included χ2 test, Logistic regression, and Mann-Whitney U test. Results DCIR rs2377422 was found significantly associated with RA （allele analysis： OR 1.26; 95%CI 1.06-1.51, P=0.005; genotype analysis CC vs Tr＋TC： OR 1.34; 95%CI 1.18-2.06, P=0.004）. Following stratification for anti-CCP antibody status, association of rs2377422 with anti-CCP-positive RA was observed （allele analysis： OR 1.22, 95%CI 0.99-1.48, P=0.055）. In contrast, the SNP rs2377422 was found specifically susceptible to anti-CCP-negative RA （allele analysis： OR 1.46; 95%CI 1.10-1.93, P=0.0091; genotype analysis CC vs TT＋TC： OR 1.58; 95%CI 1.01 -2.47, P=0.043）, despite loss of power in the analysis. DCIR gene transcription quantification analysis further pro,ted the dominant effect of rs2480256 CC genotype on DCIR mRNA expression levels in RA patients （CC vs TF＋TC： 0.429±0.069 vs 0.238±0.023, U=1861, P=-0.0015）. Conclusion The study provides evidence for the association between DCIR rs2377422 and RA, particularly with anti-CCP-negative RA in Chinese Han populations.