Distribution of rare LOXL1 missense alleles, haplotypes and diplotypes suggests association with reduced risk of glaucoma-related exfoliation syndrome.
Inas F. Aboobakar, Rob P. Igo, Tyler G. Kinzy, Jessica N. Cooke Bailey, Chiea Chuen Khor, Tin Aung, Robert Ritch, Arthur J. Sit, Richard K. Lee, Margaret Ann Pericak‐Vance, Jae H. Kang, Jonathan L. Haines, Louis Robert Pasquale, Janey L. Wiggs
The paper identifies rare protective LOXL1 missense variants and shows their haplotypes and diplotypes are associated with reduced risk of exfoliation syndrome and glaucoma.
medRxiv · Aug 5, 2021 · PreprintGenetic & Genomic Medicine