Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer.

ABSTRACT:

Background

Genome-wide association studies are widely used to map genomic regions contributing to lung cancer (LC) susceptibility, but they typically do not identify the precise disease-causing genes/variants. To unveil the inherited genetic variants that cause LC, we performed focused exome-sequencing analyses on genes located in 121 genome-wide association study-identified loci previously implicated in the risk of LC, chronic obstructive pulmonary disease, pulmonary function level, and smoking behavior.

Methods

Germline DNA from 260 case patients with LC and 318 controls were sequenced by utilizing VCRome 2.1 exome capture. Filtering was based on enrichment of rare and potential deleterious variants in cases (risk alleles) or controls (protective alleles). Allelic associat

SUBMITTER: Liu Y 

PROVIDER: S-EPMC6366341 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature