Role of rare mutation in UTR region of human CYP4B1, GMPPB gene in Tuberculosis infection

Abstract

Mycobacterium tuberculosis (Mtb) is the major causative organism for tuberculosis. It is one of the major causes of death worldwide. Every year the world shows around 9 million new TB cases. Moreover, every year around 2 million people die because of this pathogen. On the top of that, it is being predicted that, around 2 billion people are infected with latent TB worldwide. The progression of this disease is much dependent on the host immunological constitution. During active infection the bacteria present in the body replicates very fast which cannot be controlled by the immune cell present in the body. This makes a person sick. Sometimes, this scenario arrives as soon as a person gets infected with the bacterium. This indicates that, these person’s immune systems are not strong enough to protect. Moreover, there are a couple of other diseases like HIV, T2DM found to have a song association with TB, weaking our immune systems. The hosts that suffer with different disease are known as immunocompromised. They are at higher risk than other hosts. So it is important to understand the host’s genetic makeup to understand the progression of the bacteria. In this study we focused on the host centric approach and screened 171 genes with 335 location having 2135 number of variants from 100 Indian patient samples. We have identified two genes CYP4B1 and GMPPB having 3’UTR mutation which might be related to immunocompromised host. We have identified three novel missense mutations in ANKK1, GPR55 and TXNDR2 genes, which might also play a significant role in TB infection.