Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis
© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ..
Idiopathic pulmonary fibrosis (IPF) is a chronic lung condition with poor survival times. We previously published a genome-wide meta-analysis of IPF risk across three studies with independent replication of associated variants in two additional studies. To maximise power and to generate more accurate effect size estimates, we performed a genome-wide meta-analysis across all five studies included in the previous IPF risk genome-wide association studies. We used the distribution of effect sizes across the five studies to assess the replicability of the results and identified five robust novel genetic association signals implicating mTOR (mammalian target of rapamycin) signalling, telomere maintenance and spindle assembly genes in IPF risk.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2022 |
|---|---|
| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:77 |
|---|---|
| Enthalten in: |
Thorax - 77(2022), 8 vom: 10. Aug., Seite 829-833 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Allen, Richard J [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Idiopathic pulmonary fibrosis |
|---|
| Anmerkungen: |
Date Completed 27.07.2022 Date Revised 28.07.2023 published: Print-Electronic ClinicalTrials.gov: NCT01134822, NCT01110694, NCT00957242, NCT00650091, NCT04016181, NCT01071707, NCT02988388, NCT00075998, NCT01872689, NCT00287729, NCT00287716, NCT01366209 Citation Status MEDLINE |
|---|
| doi: |
10.1136/thoraxjnl-2021-218577 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM342103091 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM342103091 | ||
| 003 | DE-627 | ||
| 005 | 20231226013320.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1136/thoraxjnl-2021-218577 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1140.xml |
| 035 | |a (DE-627)NLM342103091 | ||
| 035 | |a (NLM)35688625 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Allen, Richard J |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 27.07.2022 | ||
| 500 | |a Date Revised 28.07.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a ClinicalTrials.gov: NCT01134822, NCT01110694, NCT00957242, NCT00650091, NCT04016181, NCT01071707, NCT02988388, NCT00075998, NCT01872689, NCT00287729, NCT00287716, NCT01366209 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. | ||
| 520 | |a Idiopathic pulmonary fibrosis (IPF) is a chronic lung condition with poor survival times. We previously published a genome-wide meta-analysis of IPF risk across three studies with independent replication of associated variants in two additional studies. To maximise power and to generate more accurate effect size estimates, we performed a genome-wide meta-analysis across all five studies included in the previous IPF risk genome-wide association studies. We used the distribution of effect sizes across the five studies to assess the replicability of the results and identified five robust novel genetic association signals implicating mTOR (mammalian target of rapamycin) signalling, telomere maintenance and spindle assembly genes in IPF risk | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Meta-Analysis | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Research Support, N.I.H., Extramural | |
| 650 | 4 | |a Idiopathic pulmonary fibrosis | |
| 700 | 1 | |a Stockwell, Amy |e verfasserin |4 aut | |
| 700 | 1 | |a Oldham, Justin M |e verfasserin |4 aut | |
| 700 | 1 | |a Guillen-Guio, Beatriz |e verfasserin |4 aut | |
| 700 | 1 | |a Schwartz, David A |e verfasserin |4 aut | |
| 700 | 1 | |a Maher, Toby M |e verfasserin |4 aut | |
| 700 | 1 | |a Flores, Carlos |e verfasserin |4 aut | |
| 700 | 1 | |a Noth, Imre |e verfasserin |4 aut | |
| 700 | 1 | |a Yaspan, Brian L |e verfasserin |4 aut | |
| 700 | 1 | |a Jenkins, R Gisli |e verfasserin |4 aut | |
| 700 | 1 | |a Wain, Louise V |e verfasserin |4 aut | |
| 700 | 0 | |a International IPF Genetics Consortium |e verfasserin |4 aut | |
| 700 | 1 | |a Adegunsoye, Ayodeji |e investigator |4 oth | |
| 700 | 1 | |a Allen, Richard J |e investigator |4 oth | |
| 700 | 1 | |a Booth, Helen L |e investigator |4 oth | |
| 700 | 1 | |a Fahy, William A |e investigator |4 oth | |
| 700 | 1 | |a Fingerlin, Tasha E |e investigator |4 oth | |
| 700 | 1 | |a Flores, Carlos |e investigator |4 oth | |
| 700 | 1 | |a Guillen-Guio, Beatriz |e investigator |4 oth | |
| 700 | 1 | |a Hall, Ian P |e investigator |4 oth | |
| 700 | 1 | |a Hart, Simon P |e investigator |4 oth | |
| 700 | 1 | |a Hill, Mike R |e investigator |4 oth | |
| 700 | 1 | |a Hirani, Nik |e investigator |4 oth | |
| 700 | 1 | |a Hubbard, Richard B |e investigator |4 oth | |
| 700 | 1 | |a Jenkins, R Gisli |e investigator |4 oth | |
| 700 | 1 | |a Kaminski, Naftali |e investigator |4 oth | |
| 700 | 1 | |a Ma, Shwu-Fan |e investigator |4 oth | |
| 700 | 1 | |a Maher, Toby M |e investigator |4 oth | |
| 700 | 1 | |a McAnulty, Robin J |e investigator |4 oth | |
| 700 | 1 | |a Millar, Ann B |e investigator |4 oth | |
| 700 | 1 | |a Molina-Molina, Maria |e investigator |4 oth | |
| 700 | 1 | |a Molyneaux, Philip L |e investigator |4 oth | |
| 700 | 1 | |a Navaratnam, Vidya |e investigator |4 oth | |
| 700 | 1 | |a Neighbors, Margaret |e investigator |4 oth | |
| 700 | 1 | |a Noth, Imre |e investigator |4 oth | |
| 700 | 1 | |a Oballa, Eunice |e investigator |4 oth | |
| 700 | 1 | |a Oldham, Justin M |e investigator |4 oth | |
| 700 | 1 | |a Parfrey, Helen |e investigator |4 oth | |
| 700 | 1 | |a Saini, Gauri |e investigator |4 oth | |
| 700 | 1 | |a Sayers, Ian |e investigator |4 oth | |
| 700 | 1 | |a Schwartz, David A |e investigator |4 oth | |
| 700 | 1 | |a Sheng, Xuting |e investigator |4 oth | |
| 700 | 1 | |a Stockwell, Amy |e investigator |4 oth | |
| 700 | 1 | |a Strek, Mary E |e investigator |4 oth | |
| 700 | 1 | |a Tobin, Martin D |e investigator |4 oth | |
| 700 | 1 | |a Wain, Louise V |e investigator |4 oth | |
| 700 | 1 | |a Whyte, Moira K B |e investigator |4 oth | |
| 700 | 1 | |a Yaspan, Brian L |e investigator |4 oth | |
| 700 | 1 | |a Zhang, Yingze |e investigator |4 oth | |
| 773 | 0 | 8 | |i Enthalten in |t Thorax |d 1946 |g 77(2022), 8 vom: 10. Aug., Seite 829-833 |w (DE-627)NLM00010387X |x 1468-3296 |7 nnns |
| 773 | 1 | 8 | |g volume:77 |g year:2022 |g number:8 |g day:10 |g month:08 |g pages:829-833 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1136/thoraxjnl-2021-218577 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 77 |j 2022 |e 8 |b 10 |c 08 |h 829-833 | ||