Núñez C, Rueda B, Martínez A, Maluenda C, Polanco I, López-Nevot M-A, Ortega E, Sierra E, Gómez de la Concha E, Urcelay E, Martín J
Servicio de Inmunología Clínica, Hospital Clínico San Carlos, Madrid 28040, Spain.
World J Gastroenterol. 2006 Jul 21;12(27):4397-400. doi: 10.3748/wjg.v12.i27.4397.
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.
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.
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).
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.
探讨CD209在乳糜泻（CD）患者中的作用。人们对非人类白细胞抗原（HLA）遗传因素在CD易感性中的作用了解甚少，而感染性病原体等环境因素可能起一定作用。CD209是一种参与病原体识别和免疫激活的树突状细胞和巨噬细胞表面分子。最近，已证明CD209基因启动子中的一个功能性变体（-336A/G）在体外会影响CD209的转录活性，并且它与更高的感染易感性和/或严重程度相关。
研究人群包括两个病例对照队列，分别有103例和386例CD患者以及312例和419例健康对照，还有一组257个乳糜泻家族。使用TaqMan 5'等位基因鉴别分析对-336A/G CD209启动子多态性进行基因分型。通过与等位基因特异性探针杂交来确定HLA-DQ。
最初，病例对照研究和家族研究均未发现-336 A/G CD209基因变体与CD易感性之间存在任何关联。然而，按HLA-DQ2分层确实显示，在HLA-DQ2（-）组中，CD209启动子多态性存在显著关联（DQ2（-）患者中携带A与GG相比，与DQ2（+）患者相比，P = 0.026，OR = 3.71）。
-336G CD209等位基因似乎与HLA-DQ2（-）患者的CD易感性有关。我们的结果可能提示病原体在一小部分CD患者发病中可能起作用。
