Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.

ABSTRACT:

Rationale

The clinical features of patients infected with pulmonary nontuberculous mycobacteria (PNTM) are well described, but the genetic components of infection susceptibility are not.

Objectives

To examine genetic variants in patients with PNTM, their unaffected family members, and a control group.

Methods

Whole-exome sequencing was done on 69 white patients with PNTM and 18 of their white unaffected family members. We performed a candidate gene analysis using immune, cystic fibrosis transmembrance conductance regulator (CFTR), cilia, and connective tissue gene sets. The numbers of patients, family members, and control subjects with variants in each category were compared, as was the average number of variants per person.

Measurements and main results

A sign

SUBMITTER: Szymanski EP 

PROVIDER: S-EPMC4595692 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature