Positional integration of lung adenocarcinoma susceptibility loci with primary human alveolar epithelial cell epigenomes.

ABSTRACT:

Aim

To identify functional lung adenocarcinoma (LUAD) risk SNPs.

Materials & methods

Eighteen validated LUAD risk SNPs (p ≤ 5 × 10^-8) and 930 SNPs in high linkage disequilibrium (r² > 0.5) were integrated with epigenomic information from primary human alveolar epithelial cells. Enhancer-associated SNPs likely affecting transcription factor-binding sites were predicted. Three SNPs were functionally investigated using luciferase assays, expression quantitative trait loci and cancer-specific expression.

Results

Forty-seven SNPs mapped to putative enhancers; 11 located to open chromatin. Of these, seven altered predicted transcription factor-binding motifs. Rs6942067 showed allele-specific luciferase expression and expression quantitative trait loci

SUBMITTER: Yang C 

PROVIDER: S-EPMC6391636 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature