摘要
AIM： To address the role of CD209 in celiac disease （CD） patients. Non-human leukocyte antigen （HLA） genetic factors in CD predisposition are poorly understood, and environmental factors like infectious pathogens may play a role. CD209 is a dendritic and macrophage surface molecule involved in pathogen recognition and immune activation. Recently, a functional variant in the promoter of the CD209 gene （-336A/G） has been shown to affect the transcriptional CD209 activity in vitro and it has been associated with a higher susceptibility to/or severity of infection. METHODS： The study population was composed of two case-control cohorts of 103 and 386 CD patients and 312 y 419 healthy controls as well as a panel of 257 celiac families. Genotyping for the -336A/G CD209 promoter polymorphism was performed using a TaqMan 5＇ allelic discrimination assay. HLA-DQ was determined by hybridization with allele specific probes. RESULTS： Initially, the case-control and familial studies did not find any association of the -336 A/G CD209 genetic variant with CD susceptibility. However, the stratification by HLA-DQ2 did reveal a significant association of CD209 promoter polymorphism in the HLA-DQ2 （-） group （carrier A vs GG in DQ2 （-） vs DQ2 （＋） patients （P = 0.026, OR = 3.71）. CONCLUSION： The -336G CD209 allele seems to be involved in CD susceptibility in HLA-DQ2 （-） patients. Our results might suggest a possible role of pathogens in the onset of a minor group of CD patients.
瞄准：在乳糜泻(CD ) 探讨 CD209 的角色病人。非人类的白血球抗原(HLA ) 在 CD 倾向的基因因素糟糕被理解，并且象传染病原体一样的环境因素可以起一个作用。CD209 是一树枝状并且涉及病原体识别和有免疫力的激活的巨噬细胞表面分子。最近，在 CD209 基因的倡导者的功能的变体(-336A/G) 被显示了影响 transcriptional CD209 活动在试管内，它与感染的更高的危险性 to/or 严厉被联系了。方法：学习人口由 103 和 386 个 CD 病人和 312 y 的二个盒子控制队组成象 257 个腹的家庭的一块面板一样的 419 健康控制。为 -336A/G CD209 倡导者多型性的 Genotyping 用 TaqMan 5' 被执行突变而产生之遗传的辨别试金。HLA-DQ 被杂交与等位基因 specific 探针决定。结果：开始，盒子控制和家庭研究没与 CD 危险性发现 -336 A/G CD209 基因变体的任何协会。然而，由 HLA-DQ2 的层化确实在 HLA-DQ2 (-) 组揭示了 CD209 倡导者多型性的一个重要协会(在 DQ2 (-) 对 DQ2 (+) 病人的搬运人 A 对 GG (P = 0.026，或 = 3.71 ) 。结论：-336G CD209 等位基因似乎在 HLA-DQ2 (-) 病人涉及 CD 危险性。我们的结果可能在 CD 病人的一个次要的组的发作建议病原体的一个可能的角色。
基金
Supported by the Spanish Ministerio de Educatión, Ciencia y Tecnología, SAF 2003-08522
作者简介
Dr. Alfonso Martinez, Servicio de Inmunologia Clinica, Hospital Clinico San Carlos, C/Martin Lagos s/n, Madrid 28040, Spain. alfmdoncel@gmail.com Teleohone： ＋34-913-303347 Fax： ＋34-913-303344
