Evidence for shared genetic risk factors between lymphangioleiomyomatosis and pulmonary function.

ABSTRACT:

Introduction

Lymphangioleiomyomatosis (LAM) is a rare low-grade metastasising disease characterised by cystic lung destruction. The genetic basis of LAM remains incompletely determined, and the disease cell-of-origin is uncertain. We analysed the possibility of a shared genetic basis between LAM and cancer, and LAM and pulmonary function.

Methods

The results of genome-wide association studies of LAM, 17 cancer types and spirometry measures (forced expiratory volume in 1 s (FEV₁), forced vital capacity (FVC), FEV₁/FVC ratio and peak expiratory flow (PEF)) were analysed for genetic correlations, shared genetic variants and causality. Genomic and transcriptomic data were examined, and immunodetection assays were performed to evaluate pleiotropic genes.

SUBMITTER: Farre X 

PROVIDER: S-EPMC8784893 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature