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Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
- Source :
- Nature Genetics; Vol 45, Nature Genetics, Verhoeven, V J M, Hysi, P G, Wojciechowski, R, Fan, Q, Guggenheim, J A, Hoehn, R, MacGregor, S, Hewitt, A W, Nag, A, Cheng, C-Y, Yonova-Doing, E, Zhou, X, Ikram, M K, Buitendijk, G H S, McMahon, G, Kemp, J P, St Pourcain, B, Simpson, C L, Makela, K-M, Lehtimaki, T, Kahonen, M, Paterson, A D, Hosseini, S M, Wong, H S, Xu, L, Jonas, J B, Parssinen, O, Wedenoja, J, Yip, S P, Ho, D W H, Pang, C P, Chen, L J, Burdon, K P, Craig, J E, Klein, B E K, Klein, R, Haller, T, Metspalu, A, Khor, C-C, Tai, E-S, Aung, T, Vithana, E, Tay, W-T, Barathi, V A, Rudan, I & Hayward, C & Wright, A F & Wilson, J F & Fleck, B & Vitart, V 2013, ' Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia ', Nature Genetics, vol. 45, no. 3, pp. 314-318 . https://doi.org/10.1038/ng.2554, Nature genetics, 45(3), 314-318. Nature Publishing Group, Nature Genetics, 45(3), 314-318. Nature Publishing Group, Nature genetics, 45(6). Nature Publishing Group, Nature genetics, 45 (2013): 314–318. doi:10.1038/ng.2554, info:cnr-pdr/source/autori:Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä KM, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DW, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA; Consortium for Refractive Error and Myopia (CREAM), Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A; Diabetes Control and Complications Trial%2FEpidemiology of Diabetes Interventions and Complications (DCCT%2FEDIC) Research Group, Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W; Wellcome Trust Case Control Consortium 2 (WTCCC2), Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasatian S, Igo RP Jr, Lass JH, Chew E, Iyengar SK; Fuchs' Genetics Multi-Center Study Group, Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AA, Teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ./titolo:Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia/doi:10.1038%2Fng.2554/rivista:Nature genetics (Print)/anno:2013/pagina_da:314/pagina_a:318/intervallo_pagine:314–318/volume:45, Nature Genetics, 45, 314-318. Nature Publishing Group
- Publication Year :
- 2013
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Abstract
- Author version made available in accordance with the publisher's policy.<br />Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.<br />Australian National Health and Medical Research Council.
- Subjects :
- Candidate gene
Refractive error
Bone Morphogenetic Protein 2
Genome-wide association study
VARIANTS
Genome
Genome-wide association studies
0302 clinical medicine
Risk Factors
Myopia
GRIA4
Genetics
0303 health sciences
KCNQ Potassium Channels
Disease genetics
EYE GROWTH
ASSOCIATION
RETINAL-PIGMENT EPITHELIUM
Refractive Errors
Genetic load
3. Good health
ADAPTED MOUSE RETINA
Meta-analysis
ACID
POTASSIUM CHANNEL
EXPRESSION
Single-nucleotide polymorphism
Biology
White People
Article
03 medical and health sciences
Asian People
medicine
Humans
Genetic Predisposition to Disease
Receptors, AMPA
gene
myopia
refractive
030304 developmental biology
Homeodomain Proteins
ta1184
ta3121
medicine.disease
GENE
Alcohol Oxidoreductases
SERINE-PROTEASE
biology.protein
030221 ophthalmology & optometry
Susceptibility locus
Trans-Activators
Eye disorder
Laminin
Serine Proteases
GWAS
meta-analyses
refractive error
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 10614036
- Volume :
- 45
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....da83003a699c9c62b500f19b7e10faf0