What Role Do Genome Variations Play in Tuberculosis?

Tuberculosis is caused by Mycobacterium tuberculosis. In 2016, this was the most common causative pathogen for death by infectious diseases. Therefore, investigating the biology of infection and disease development is important in the quest to end tuberculosis. In this study, the authors conducted an integrative analysis of human and pathogen genome variations in tuberculosis. The study is published in Springer Nature's Journal of Human Genetics.

Genome-wide association study (GWAS) is an analysis method in genetics which is used to identify disease-related genome variations by comparing the differences in genotype frequencies in a case and control group.

There have been several GWAS regarding susceptibility to tuberculosis. However, previous GWAS have not been based on analysis that accounted for pathogen variations.

The possible interplay between the host and pathogen genomic variations is difficult to analyze because both the infected human genome and infecting pathogen genome need to be collected from large numbers of patients.

In this research the authors did a systematic exploration of host variations for their association with specific lineages of Mycobacterium tuberculosis, which share the same pathogen genome variations.

This is the first GWAS report identifying the host genetic association with tuberculosis after stratification by pathogen variations.

Genotype frequency of a single nucleotide polymorphism (SNP) was increased in a group of patients infected by specific lineage of Mycobacterium tuberculosis compared with the healthy controls.



Source-Eurekalert