A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation

Gorman, Bryan R.; Francis, Michael; Nealon, Cari L.; Halladay, Christopher W.; Duro, Nalvi; Markianos, Kyriacos; Genovese, Giulio; Hysi, Pirro G.; Choquet, Hélène; Afshari, Natalie A.; Li, Yi-Ju; Tsao, Philip S.; Gaziano, J. Michael; Hung, Adriana M.; Wu, Wen-Chih; Greenberg, Paul B.; Pyarajan, Saiju; Lass, Jonathan H.; Peachey, Neal S.; Iyengar, Sudha K.

doi:10.1038/s42003-024-06046-3

Title: A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation

Journal Article · 06 April 2024 · Communications Biology

DOI: https://doi.org/10.1038/s42003-024-06046-3 · OSTI ID:2470344

^[1];

^[1]; Nealon, Cari L. ^[2]; Halladay, Christopher W. ^[3]; Duro, Nalvi ^[1];

^[4];

^[5];

^[6];

^[7]; Afshari, Natalie A. ^[8];

^[9]; Tsao, Philip S. ^[10]; Gaziano, J. Michael ^[11]; Hung, Adriana M. ^[12];

^[3]; Greenberg, Paul B. ^[13];

^[4]; Lass, Jonathan H. ^[14];

^[15];

^[16]

VA Boston Healthcare System, Boston, MA (United States); Booz Allen Hamilton, McLean, VA (United States)
VA Northeast Ohio Healthcare System, Cleveland, OH (United States)
Providence VA Medical Center, Providence, RI (United States)
VA Boston Healthcare System, Boston, MA (United States)
Broad Institute of MIT and Harvard, Cambridge, MA (United States); Harvard Medical School, Boston, MA (United States)
King's College, London (United Kingdom)
Kaiser Permanente Northern California (KPNC), Oakland, CA (United States)
Univ. of California, San Diego, CA (United States)
Duke Univ., Durham, NC (United States)
VA Palo Alto Health Care System, Palo Alto, CA (United States); Stanford Univ., CA (United States). School of Medicine
VA Boston Healthcare System, Boston, MA (United States); Harvard Medical School, Boston, MA (United States)
Vanderbilt Univ., Nashville, TN (United States); VA Tennessee Valley Healthcare System, Nashville, TN (United States)
Providence VA Medical Center, Providence, RI (United States); Brown Univ., Providence, RI (United States)
Case Western Reserve Univ., Cleveland, OH (United States)
VA Northeast Ohio Healthcare System, Cleveland, OH (United States); Cleveland Clinic Foundation, Cleveland, OH (United States)
VA Northeast Ohio Healthcare System, Cleveland, OH (United States); Case Western Reserve Univ., Cleveland, OH (United States)

Fuchs endothelial corneal dystrophy (FECD) is a leading indication for corneal transplantation, but its molecular etiology remains poorly understood. We performed genome-wide association studies (GWAS) of FECD in the Million Veteran Program followed by multi-ancestry meta-analysis with the previous largest FECD GWAS, for a total of 3970 cases and 333,794 controls. We confirm the previous four loci, and identify eight novel loci: SSBP3, THSD7A, LAMB1, PIDD1, RORA, HS3ST3B1, LAMA5, and COL18A1. We further confirm the TCF4 locus in GWAS for admixed African and Hispanic/Latino ancestries and show an enrichment of European-ancestry haplotypes at TCF4 in FECD cases. Among the novel associations are low frequency missense variants in laminin genes LAMA5 and LAMB1 which, together with previously reported LAMC1, form laminin-511 (LM511). AlphaFold 2 protein modeling, validated through homology, suggests that mutations at LAMA5 and LAMB1 may destabilize LM511 by altering inter-domain interactions or extracellular matrix binding. Finally, phenome-wide association scans and colocalization analyses suggest that the TCF4 CTG18.1 trinucleotide repeat expansion leads to dysregulation of ion transport in the corneal endothelium and has pleiotropic effects on renal function.

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Research Organization:: VA Boston Healthcare System, Boston, MA (United States)

Sponsoring Organization:: USDOE

Contributing Organization:: VA Million Veteran Program

OSTI ID:: 2470344

Journal Information:: Communications Biology, Journal Name: Communications Biology Journal Issue: 1 Vol. 7; ISSN 2399-3642

Publisher:: Springer NatureCopyright Statement

Country of Publication:: United States

Language:: English

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