The Genetic Landscape of Familial Pulmonary Fibrosis.

Qi LiuYuan ZhouJoy D CoganDaphne B MitchellQuanhu ShengShilin ZhaoYouhuang BaiKristen K CiomborCarleen M SabusapCheryl R MarkinKatrina DouglasGuixiao DingNicholas E BanovichDeborah A NickersonElizabeth E BlueMichael J BamshadKevin K BrownDavid A SchwartzJohn A PhillipsRuben Martinez-BarricarteMargaret L SalisburyYu ShyrJames E LoydJonathan A KropskiTimothy S Blackwell

Published in: American journal of respiratory and critical care medicine (2023)

In the most comprehensive FPF genetic study to date, we defined the prevalence of RVs in known FPF-related genes and identified new candidate genes and pathways relevant to FPF. However, we did not identify new RV-containing genes shared across multiple kindreds, thereby suggesting that heterogeneous genetic variants involving a variety of genes and pathways mediate genetic risk in most FPF kindreds.

Keyphrases

genome wide
pulmonary fibrosis
copy number
dna methylation
mycobacterium tuberculosis
early onset
gene expression
transcription factor
genome wide analysis