CEINGE-Biotecnologie Avanzate SCarl, Naples, Italy.
Task Force on Microbiome Studies, Università degli Studi di Napoli Federico II and CEINGE-Biotecnologie Avanzate SCarl, Naples, Italy.
Clin Chem Lab Med. 2020 Feb 25;58(3):340-349. doi: 10.1515/cclm-2019-0657.
Our body is inhabited by a variety of microbes (microbiota), mainly bacteria, that outnumber our own cells. Until recently, most of what we knew about the human microbiota was based on culture methods, whereas a large part of the microbiota is uncultivable, and consequently previous information was limited. The advent of culture-independent methods and, particularly, of next-generation sequencing (NGS) methodology, marked a turning point in studies of the microbiota in terms of its composition and of the genes encoded by these microbes (microbiome). The microbiome is influenced predominantly by environmental factors that cause a large inter-individual variability (~20%) being its heritability only 1.9%. The gut microbiome plays a relevant role in human physiology, and its alteration ("dysbiosis") has been linked to a variety of inflammatory gut diseases, including celiac disease (CD). CD is a chronic, immune-mediated disorder that is triggered by both genetic (mainly HLA-DQ2/DQ8 haplotypes) and environmental factors (gluten), but, in recent years, a large body of experimental evidence suggested that the gut microbiome is an additional contributing factor to the pathogenesis of CD. In this review, we summarize the literature that has investigated the gut microbiome associated with CD, the methods and biological samples usually employed in CD microbiome investigations and the putative pathogenetic role of specific microbial alterations in CD. In conclusion, both gluten-microbe and host-microbe interactions drive the gluten-mediated immune response. However, it remains to be established whether the CD-associated dysbiosis is the consequence of the disease, a simple concomitant association or a concurring causative factor.
我们的身体中栖息着各种各样的微生物（微生物群），主要是细菌，其数量超过了我们自身的细胞。直到最近，我们对人体微生物群的大部分了解都是基于培养方法，而很大一部分微生物群是无法培养的，因此之前的信息是有限的。非培养依赖方法的出现，特别是下一代测序（NGS）方法的出现，标志着我们对微生物群的组成及其编码基因（微生物组）的研究的一个转折点。微生物组主要受环境因素的影响，这些因素导致了个体间的巨大差异（~20%），其遗传性仅为 1.9%。肠道微生物组在人体生理学中发挥着重要作用，其改变（“失调”）与多种炎症性肠道疾病有关，包括乳糜泻（CD）。CD 是一种慢性、免疫介导的疾病，由遗传因素（主要是 HLA-DQ2/DQ8 单倍型）和环境因素（麸质）共同触发，但近年来，大量实验证据表明，肠道微生物组是 CD 发病机制的另一个致病因素。在这篇综述中，我们总结了与 CD 相关的肠道微生物组的文献，CD 微生物组研究中常用的方法和生物样本，以及特定微生物改变在 CD 中的潜在致病作用。总之，麸质-微生物和宿主-微生物的相互作用驱动了麸质介导的免疫反应。然而，CD 相关的失调是疾病的结果、单纯的伴随关联还是并发的致病因素，仍有待确定。
