Ontology highlight
ABSTRACT:
SUBMITTER: Evans CM
PROVIDER: S-EPMC5243224 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Evans Christopher M CM Fingerlin Tasha E TE Schwarz Marvin I MI Lynch David D Kurche Jonathan J Warg Laura L Yang Ivana V IV Schwartz David A DA
Physiological reviews 20161001 4
Idiopathic pulmonary fibrosis (IPF) is an incurable complex genetic disorder that is associated with sequence changes in 7 genes (MUC5B, TERT, TERC, RTEL1, PARN, SFTPC, and SFTPA2) and with variants in at least 11 novel loci. We have previously found that 1) a common gain-of-function promoter variant in MUC5B rs35705950 is the strongest risk factor (genetic and otherwise), accounting for 30-35% of the risk of developing IPF, a disease that was previously considered idiopathic; 2) the MUC5B promo ...[more]