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Updated: Apr 3, 2026

Microbiota Analysis Using Two-step PCR and Next-generation 16S rRNA Gene Sequencing
Published on: October 15, 2019
Host genetic variation impacts microbiome composition across human body sites
Ran Blekhman1,2, Julia K Goodrich3,4, Katherine Huang5
1Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, 55455, USA. blekhman@umn.edu.
Host genetics significantly influence the human microbiome composition across various body sites. This genetic variation, particularly in immunity pathways, links to diseases and may reflect human adaptation to specific microbial environments.
Area of Science:
- Microbiome Research
- Human Genetics
- Genomics
Background:
- Human microbiome composition varies significantly between individuals.
- Microbial communities are influenced by environmental factors and host genetics.
- Understanding host-microbiome interactions is crucial for human health.
Purpose of the Study:
- To comprehensively profile interactions between human genetic variation and microbiome composition.
- To investigate the genome- and microbiome-wide scale of these interactions.
- To identify specific host genes and pathways influencing the microbiome.
Main Methods:
- Joint analysis of human microbiome composition and host genetic variation.
- Mining shotgun metagenomic data from the Human Microbiome Project for host DNA.
- Analyzing bacterial abundance data alongside host genetic information for 93 individuals.
Main Results:
- Significant associations found between host genetic variation and microbiome composition at 10 of 15 body sites.
- Associations are driven by host genetic variation in immunity-related pathways.
- Enrichment of associations in host genes linked to complex diseases like inflammatory bowel disease and obesity.
- Host genomic regions associated with the microbiome show high genetic differentiation among populations.
Conclusions:
- Host genetic variation plays a key role in shaping human microbiome composition.
- Provides a foundation for understanding human genetics-microbiome interactions in evolution and disease.
- Highlights potential host genomic adaptation to environment-specific microbiomes.
Related Concept Videos
Introduction to the Human Microbiota
Development of Human Microbiota
Evolution of Microbial Genome
The Skin Microbiota
Microbiota of the Urogenital Tract
Human Virome

