The gut microbiome plays a significant role in health and disease, and there is mounting evidence indicating that the microbial composition is regulated in part by host genetics. Heritability estimates for microbial abundance in mice and humans range from (0.05–0.45), indicating that 5–45% of inter-individual variation can be explained by genetics. Through twin studies, genetic association studies, systems genetics, and genome-wide association studies (GWAS), hundreds of specific host genetic loci have been shown to associate with the abundance of discrete gut microbes. Using genetically engineered knock-out mice, at least 30 specific genes have now been validated as having specific effects on the microbiome. The relationships among of host genetics, microbiome composition, and abundance, and disease is now beginning to be unraveled through experiments designed to test causality. The genetic control of disease and its relationship to the microbiome can manifest in multiple ways. First, a genetic variant may directly cause the disease phenotype, resulting in an altered microbiome as a consequence of the disease phenotype. Second, a genetic variant may alter gene expression in the host, which in turn alters the microbiome, producing the disease phenotype. Finally, the genetic variant may alter the microbiome directly, which can result in the disease phenotype. In order to understand the processes that underlie the onset and progression of certain diseases, future research must take into account the relationship among host genetics, microbiome, and disease phenotype, and the resources needed to study these relationships.

肠道微生物组在健康和疾病中发挥着重要作用，越来越多的证据表明微生物组成部分受到宿主遗传学的调节。小鼠和人类微生物丰度的遗传力估计范围为 (0.05–0.45)，表明 5–45% 的个体间变异可以通过遗传学来解释。通过双胞胎研究、遗传关联研究、系统遗传学和全基因组关联研究 (GWAS)，数百个特定宿主基因位点已被证明与离散肠道微生物的丰度相关。使用基因工程敲除小鼠，至少 30 个特定基因现已被验证对微生物组具有特定影响。宿主遗传学、微生物组组成和丰度与疾病之间的关系现在开始通过旨在测试因果关系的实验来阐明。疾病的遗传控制及其与微生物组的关系可以通过多种方式表现出来。首先，遗传变异可能直接导致疾病表型，从而导致微生物组因疾病表型而改变。其次，遗传变异可能会改变宿主的基因表达，进而改变微生物组，产生疾病表型。最后，遗传变异可能直接改变微生物组，从而导致疾病表型。为了了解某些疾病发生和进展的过程，未来的研究必须考虑宿主遗传学、微生物组和疾病表型之间的关系，以及研究这些关系所需的资源。