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Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
Nature communications, 2018-05, Vol.9 (1), p.1864-11, Article 1864
2018
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Autor(en) / Beteiligte
Titel
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
Ist Teil von
  • Nature communications, 2018-05, Vol.9 (1), p.1864-11, Article 1864
Ort / Verlag
London: Nature Publishing Group UK
Erscheinungsjahr
2018
Quelle
MEDLINE
Beschreibungen/Notizen
  • Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1 , ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus ( r  = −0.62, P  = 5.30 × 10 −5 ) but not between CCT and primary open-angle glaucoma ( r  = −0.17, P  = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation. Reduced central corneal thickness (CCT) is observed in common eye diseases as well as in rare Mendelian disorders. Here, in a cross-ancestry GWAS, the authors identify 19 novel genetic loci associated with CCT, a subset of which is involved in rare corneal or connective tissue disorders.
Sprache
Englisch
Identifikatoren
ISSN: 2041-1723
eISSN: 2041-1723
DOI: 10.1038/s41467-018-03646-6
Titel-ID: cdi_doaj_primary_oai_doaj_org_article_f7334f0a8f8b42b18a3180c2a6650fb9
Format
–
Schlagworte
631/208/205/2138, 631/378/2583, 692/308/2056, 692/699/3161/3165, ADAMTS Proteins - genetics, ADAMTS Proteins - metabolism, Asian People, Association analysis, Collagen, Connective tissues, Cornea, Cornea - abnormalities, Cornea - metabolism, Cornea - pathology, Corneal Diseases - ethnology, Corneal Diseases - genetics, Corneal Diseases - metabolism, Corneal Diseases - pathology, Corneal Dystrophies, Hereditary - ethnology, Corneal Dystrophies, Hereditary - genetics, Corneal Dystrophies, Hereditary - metabolism, Corneal Dystrophies, Hereditary - pathology, Decorin - genetics, Decorin - metabolism, Ehlers-Danlos Syndrome - ethnology, Ehlers-Danlos Syndrome - genetics, Ehlers-Danlos Syndrome - metabolism, Ehlers-Danlos Syndrome - pathology, Extracellular matrix, Eye diseases, Eye Diseases, Hereditary - ethnology, Eye Diseases, Hereditary - genetics, Eye Diseases, Hereditary - metabolism, Eye Diseases, Hereditary - pathology, Fibrillin-1 - genetics, Fibrillin-1 - metabolism, Gene Expression, Genes, Genetics, Genome, Human, Genome-Wide Association Study, Genomes, Glaucoma, Glaucoma, Open-Angle - ethnology, Glaucoma, Open-Angle - genetics, Glaucoma, Open-Angle - metabolism, Glaucoma, Open-Angle - pathology, Human genetics, Human health and pathology, Humanities and Social Sciences, Humans, Keratoconus, Keratoconus - ethnology, Keratoconus - genetics, Keratoconus - metabolism, Keratoconus - pathology, Life Sciences, Loeys-Dietz Syndrome - ethnology, Loeys-Dietz Syndrome - genetics, Loeys-Dietz Syndrome - metabolism, Loeys-Dietz Syndrome - pathology, Lumican - genetics, Lumican - metabolism, Marfan Syndrome - ethnology, Marfan Syndrome - genetics, Marfan Syndrome - metabolism, Marfan Syndrome - pathology, Mendelian Randomization Analysis, multidisciplinary, Myopia, Myopia - ethnology, Myopia - genetics, Myopia - metabolism, Myopia - pathology, Polymorphism, Single Nucleotide, Populations and Evolution, Proteoglycans - genetics, Proteoglycans - metabolism, Quantitative Trait Loci, Quantitative Trait, Heritable, Santé publique et épidémiologie, Science, Science (multidisciplinary), Sensory Organs, Tissues, Transforming Growth Factor beta2 - genetics, Transforming Growth Factor beta2 - metabolism, White People

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