Sung H, Camargo M C, Yu K, Weinstein S J, Morgan D R, Albanes D, Rabkin C S
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Division of Gastroenterology, Vanderbilt University, Nashville, TN, USA.
Genes Immun. 2015 Dec;16(8):567-70. doi: 10.1038/gene.2015.33. Epub 2015 Aug 27.
A genome-wide association study among Europeans related polymorphisms of the Toll-like receptor (TLR) locus at 4p14 and the Fcγ receptor 2a locus at 1q23.3 to Helicobacter pylori serologic status. We replicated associations of 4p14 but not 1q23.3 with anti-Helicobacter pylori antibodies in 1402 Finnish males. Importantly, our analysis clarified that the phenotype affected by 4p14 is quantitative level of these antibodies rather than association with seropositivity per se. In addition, we annotated variants at 4p14 as expression quantitative trait loci (eQTL) associated with TLR6/10 and FAM114A1. Our findings suggest that 4p14 polymorphisms are linked to host immune response to H. pylori infection but not to its acquisition.
一项针对欧洲人的全基因组关联研究,探究位于4p14的Toll样受体(TLR)基因座和位于1q23.3的Fcγ受体2a基因座的相关多态性与幽门螺杆菌血清学状态的关系。我们在1402名芬兰男性中重复验证了4p14而非1q23.3与抗幽门螺杆菌抗体的关联。重要的是,我们的分析明确了受4p14影响的表型是这些抗体的定量水平,而非与血清阳性本身的关联。此外,我们将4p14处的变异注释为与TLR6/10和FAM114A1相关的表达数量性状基因座(eQTL)。我们的研究结果表明,4p14多态性与宿主对幽门螺杆菌感染的免疫反应相关,但与感染的获得无关。