Endocrinology, Diabetes and Nutrition Research Group, Hospital de Cruces, Barakaldo-Bizkaia, Basque Country, Spain.
Hum Immunol. 2010 Aug;71(8):833-6. doi: 10.1016/j.humimm.2010.05.012. Epub 2010 May 17.
Celiac disease (CD) is an immune-mediated disorder of the gut in which innate and adaptive responses are involved. Toll-like receptor (TLR) 2 and TLR4 participate in host defense through antigen recognition, and show altered expression in CD gut mucosa. beta-defensins are inducible antimicrobial peptides, and DEFB gene copy number polymorphisms have been associated with autoimmune and inflammatory disorders. We performed copy number analysis of TLR2, TLR4, and the beta-defensin cluster (DEFB4, DEFB103 and DEFB104) by gene-specific, real-time polymerase chain reaction (PCR) in 376 CD patients and 376 controls. TLR genes did not show copy number variation, and all samples presented with two copies. beta-defensin clusters varied between 2 and 9 copies per genome, and when grouped into bins, high copy numbers (>4) were underrepresented among patients (p = 0.023; odds ratio = 0.69, 95% CI = 0.50-0.96), suggesting that increased copy numbers could protect from CD, possibly by impeding bacterial infiltration more efficiently and preserving gut epithelial integrity.
乳糜泻（CD）是一种涉及先天和适应性免疫反应的肠道免疫介导性疾病。Toll 样受体（TLR）2 和 TLR4 通过抗原识别参与宿主防御，并在 CD 肠道黏膜中表现出改变的表达。β-防御素是诱导型抗菌肽，DEFB 基因拷贝数多态性与自身免疫和炎症性疾病有关。我们通过基因特异性实时聚合酶链反应（PCR）对 376 例 CD 患者和 376 例对照者的 TLR2、TLR4 和β-防御素簇（DEFB4、DEFB103 和 DEFB104）进行了拷贝数分析。TLR 基因未显示拷贝数变异，所有样本均具有两个拷贝。β-防御素簇的基因组拷贝数在 2 到 9 个之间，当分组成箱时，患者中高拷贝数（>4）的比例较低（p=0.023；优势比=0.69，95%CI=0.50-0.96），这表明增加的拷贝数可以保护免受 CD 的侵害，可能通过更有效地阻止细菌渗透并保持肠道上皮细胞的完整性。
