Δημοσίευση

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

ΤίτλοςA common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
Publication TypeJournal Article
Year of Publication2015
AuthorsAung, T., Ozaki M., Mizoguchi T., R Allingham R., Li Z., Haripriya A., et al.
Corporate AuthorsBlue Mountains Eye Study GWAS Team, & Wellcome Trust Case Control Consortium 2
JournalNat Genet
Volume47
Issue4
Pagination387-92
Date Published2015 Apr
ISSN1546-1718
Λέξεις κλειδιάAnimals, Asian Continental Ancestry Group, Calcium Channels, Case-Control Studies, Chromosome Mapping, Exfoliation Syndrome, Genetic Predisposition to Disease, Genome-Wide Association Study, Glaucoma, Open-Angle, HEK293 Cells, HeLa Cells, Humans, Japan, MCF-7 Cells, Mice, Mice, Inbred C57BL, Polymorphism, Single Nucleotide, Tumor Cells, Cultured
Abstract

Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.

DOI10.1038/ng.3226
Alternate JournalNat Genet
PubMed ID25706626
PubMed Central IDPMC4605818
Grant ListR01 EY011721 / EY / NEI NIH HHS / United States
R29 EY011721 / EY / NEI NIH HHS / United States
EY018825 / EY / NEI NIH HHS / United States
085475/08/Z / / Wellcome Trust / United Kingdom
R01 EY018825 / EY / NEI NIH HHS / United States
EY023512 / EY / NEI NIH HHS / United States
R01 EY020928 / EY / NEI NIH HHS / United States
/ / Howard Hughes Medical Institute / United States
085475/B/08/Z / / Wellcome Trust / United Kingdom
P30 EY014104 / EY / NEI NIH HHS / United States
EY11721 / EY / NEI NIH HHS / United States
R01 EY023512 / EY / NEI NIH HHS / United States
R01 EY013882 / EY / NEI NIH HHS / United States

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