Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants.
Anna L PeljtoRachel Z BlumhagenAvram D WaltsJonathan CardwellJulia PowersTamera J CorteJoanne L DickinsonIan GlaspoleYuben P MoodleyMartina Koziar VasakovaElisabeth BendstrupJesper Rømhild DavidsenRaphael BorieBruno CrestaniPhilippe DieudeFrancesco BonellaUlrich CostabelGunnar GudmundssonSeamas C DonnellyJim EganMichael T HenryMichael P KeaneMarcus P KennedyCormac McCarthyAoife N McElroyJoshua A OlaniyiKatherine M A O'ReillyLuca RicheldiPaolo Maria LeoneVenerino PolettiFrancesco PuppoSara TomassettiValentina LuzziNurdan KokturkNesrin MogulkocChristine A FiddlerNikhil HiraniGisli JenkinsToby M MaherPhilip L MolyneauxHelen ParfreyRebecca BraybrookeTimothy S BlackwellPeter D JacksonSteven D NathanMary K PorteousKevin K BrownJason D ChristieHarold R CollardOliver EickelbergElena E FosterKevin F GibsonMarilyn GlassbergDaniel J KassJonathan A KropskiDavid LedererAngela L LinderholmJim LoydSusan K MathaiSydney B MontesiImre NothJustin M OldhamAmy J PalmiscianoCristina A ReichnerMauricio RojasJesse RomanNeil SchlugerBarry S SheaJeffrey J SwigrisPaul J WoltersYingze ZhangCecilia M A PreleJuan I EnghelmayerMaria OtaolaChristopher J RyersonMauricio SalinasMartina SterclovaTewodros H GebremariamMarjukka MyllärniemiRoberto CarboneHaruhiko FurusawaMasaki HiroseYoshikazu InoueYasunari MiyazakiKen OhtaShin OhtaTsukasa OkamotoDong Soon KimAnnie PardoMoises SelmanAlvaro U ArandaMoo Suk ParkJong Sun ParkJin Woo SongMaria Molina-MolinaLurdes Planas-CerezalesGunilla Westergren-ThorssonAlbert V SmithAni W ManichaikulJohn S KimStephen S RichElizabeth C OelsnerR Graham BarrJerome I RotterJosee DupuisGeorge O'ConnorRamachandran S VasanMichael H ChoEdwin K SilvermanMarvin I SchwarzMark P SteeleJoyce S LeeIvana V YangTasha E FingerlinDavid A Schwartznull nullPublished in: American journal of respiratory and critical care medicine (2023)
Rare variants within the TERT and RTEL1 genes and well-established common variants have the largest contribution to IPF risk overall. Efforts in risk profiling or development of therapies for IPF that focus on TERT, RTEL1, common variants, and environmental risk factors are likely to have the largest impact on this complex disease.