BibTex format
@article{Dhindsa:2021:10.1038/s42003-021-01910-y,
author = {Dhindsa, RS and Mattsson, J and Nag, A and Wang, Q and Wain, L and Allen, R and Wigmore, EM and Ibanez, K and Vitsios, D and Deevi, SVV and Wasilewski, S and Karlsson, M and Lassi, G and Olsson, H and Muthas, D and Monkley, S and Mackay, A and Murray, L and Young, S and Haefliger, C and Maher, TM and Belvisi, MG and Jenkins, G and Molyneaux, PL and Platt, A and Petrovski, S},
doi = {10.1038/s42003-021-01910-y},
journal = {Communications Biology},
title = {Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis},
url = {http://dx.doi.org/10.1038/s42003-021-01910-y},
volume = {4},
year = {2021}
}
RIS format (EndNote, RefMan)
TY - JOUR
AB - Idiopathic pulmonary fibrosis (IPF) is a fatal disorder characterised by progressive, destructive lung scarring. Despite substantial progress, the genetic determinants of this disease remain incompletely defined. Using whole genome and whole exome sequencing data from 752 individuals with sporadic IPF and 119,055 UK Biobank controls, we performed a variant-level exome-wide association study (ExWAS) and gene-level collapsing analyses. Our variant-level analysis revealed a novel association between a rare missense variant in SPDL1 and IPF (NM_017785.5:g.169588475 G > A p.Arg20Gln; p = 2.4 × 10−7, odds ratio = 2.87, 95% confidence interval: 2.03–4.07). This signal was independently replicated in the FinnGen cohort, which contains 1028 cases and 196,986 controls (combined p = 2.2 × 10−20), firmly associating this variant as an IPF risk allele. SPDL1 encodes Spindly, a protein involved in mitotic checkpoint signalling during cell division that has not been previously described in fibrosis. To the best of our knowledge, these results highlight a novel mechanism underlying IPF, providing the potential for new therapeutic discoveries in a disease of great unmet need.
AU - Dhindsa,RS
AU - Mattsson,J
AU - Nag,A
AU - Wang,Q
AU - Wain,L
AU - Allen,R
AU - Wigmore,EM
AU - Ibanez,K
AU - Vitsios,D
AU - Deevi,SVV
AU - Wasilewski,S
AU - Karlsson,M
AU - Lassi,G
AU - Olsson,H
AU - Muthas,D
AU - Monkley,S
AU - Mackay,A
AU - Murray,L
AU - Young,S
AU - Haefliger,C
AU - Maher,TM
AU - Belvisi,MG
AU - Jenkins,G
AU - Molyneaux,PL
AU - Platt,A
AU - Petrovski,S
DO - 10.1038/s42003-021-01910-y
PY - 2021///
SN - 2399-3642
TI - Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
T2 - Communications Biology
UR - http://dx.doi.org/10.1038/s42003-021-01910-y
UR - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000634790400006&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR - http://hdl.handle.net/10044/1/88314
VL - 4
ER -