Background Pathological myopia is one of the leading causes of blindness globally. Lower birth weight (BW) within the normal range has been reported to increase the risk of myopia, although findings conflict. We sought to estimate the causal effect of BW on refractive error using Mendelian randomisation (MR), under the assumption of a linear relationship. Methods Genetic variants associated with BW were identified from meta-analysis of a genome-wide association study (GWAS) for self-reported BW in 162 039 UK Biobank participants and a published Early Growth Genetics (EGG) consortium GWAS (n=26 836). We performed a one-sample MR analysis in 39 658 unrelated, adult UK Biobank participants (independent of the GWAS sample) using an allele score for BW as instrumental variable. A two-sample MR sensitivity analysis and conventional ordinary least squares (OLS) regression analyses were also undertaken. Results In OLS analysis, BW showed a small, positive association with refractive error: +0.04 D per SD increase in BW (95% CI 0.02 to 0.07; p=0.002). The one-sample MR-estimated causal effect of BW on refractive error was higher, at +0.28 D per SD increase in BW (95% CI 0.05 to 0.52, p=0.02). A two-sample MR analysis provided similar causal effect estimates, with minimal evidence of directional pleiotropy. Conclusions Our study suggests lower BW within the normal range is causally associated with a more myopic refractive error. However, the impact of the causal effect was modest (range 1.00 D covering approximately 95% of the population).
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Bycroft, Clare
Freeman, Colin
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h-index: 0
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Univ Oxford, Wellcome Ctr Human Genet, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Freeman, Colin
Petkova, Desislava
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Procter & Gamble, Brussels, BelgiumUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Petkova, Desislava
Band, Gavin
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Band, Gavin
Elliott, Lloyd T.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Dept Stat, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Elliott, Lloyd T.
Sharp, Kevin
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Dept Stat, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Sharp, Kevin
Motyer, Allan
论文数: 0引用数: 0
h-index: 0
机构:
Univ Melbourne, Melbourne Integrat Genom, Parkville, Vic, Australia
Univ Melbourne, Sch Math & Stat, Parkville, Vic, Australia
Univ Melbourne, Sch BioSci, Parkville, Vic, AustraliaUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Motyer, Allan
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机构:
Vukcevic, Damjan
Delaneau, Olivier
论文数: 0引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Geneva, Swiss Inst Bioinformat, Geneva, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, Geneva, SwitzerlandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Delaneau, Olivier
O'Connell, Jared
论文数: 0引用数: 0
h-index: 0
机构:
Illumina Ltd, Chesterford Res Pk, Saffron Walden, Essex, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
O'Connell, Jared
Cortes, Adrian
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, John Radcliffe Hosp, Div Clin Neurol, Nuffield Dept Clin Neu rosci, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Cortes, Adrian
Welsh, Samantha
论文数: 0引用数: 0
h-index: 0
机构:
UK Biobank, Stockport, Cheshire, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Welsh, Samantha
Young, Alan
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Li Ka Shing Ctr Hlth Informat & Discovery, Big Data Inst, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Young, Alan
Effingham, Mark
论文数: 0引用数: 0
h-index: 0
机构:
UK Biobank, Stockport, Cheshire, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Effingham, Mark
McVean, Gil
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, Li Ka Shing Ctr Hlth Informat & Discovery, Big Data Inst, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
McVean, Gil
Leslie, Stephen
论文数: 0引用数: 0
h-index: 0
机构:
Univ Melbourne, Melbourne Integrat Genom, Parkville, Vic, Australia
Univ Melbourne, Sch Math & Stat, Parkville, Vic, Australia
Univ Melbourne, Sch BioSci, Parkville, Vic, Australia
Murdoch Childrens Res Inst, Parkville, Vic, AustraliaUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Leslie, Stephen
Allen, Naomi
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Li Ka Shing Ctr Hlth Informat & Discovery, Big Data Inst, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Allen, Naomi
Donnelly, Peter
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, Dept Stat, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Donnelly, Peter
Marchini, Jonathan
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, Dept Stat, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
机构:
Complete Genom, Mountain View, CA 94043 USA
BGI Cognit Genom Lab, Shenzhen 518083, Peoples R ChinaComplete Genom, Mountain View, CA 94043 USA
Chang, Christopher C.
Chow, Carson C.
论文数: 0引用数: 0
h-index: 0
机构:
NIDDK, Math Biol Sect, LBM, NIH, Bethesda, MD 20892 USAComplete Genom, Mountain View, CA 94043 USA
Chow, Carson C.
Tellier, Laurent C. A. M.
论文数: 0引用数: 0
h-index: 0
机构:
BGI Cognit Genom Lab, Shenzhen 518083, Peoples R China
Univ Copenhagen, Bioinformat Ctr, DK-2200 Copenhagen, DenmarkComplete Genom, Mountain View, CA 94043 USA
Tellier, Laurent C. A. M.
Vattikuti, Shashaank
论文数: 0引用数: 0
h-index: 0
机构:
NIDDK, Math Biol Sect, LBM, NIH, Bethesda, MD 20892 USAComplete Genom, Mountain View, CA 94043 USA
Vattikuti, Shashaank
Purcell, Shaun M.
论文数: 0引用数: 0
h-index: 0
机构:
Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA
Icahn Sch Med Mt Sinai, Div Psychiat Genom, Dept Psychiat, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, New York, NY 10029 USA
Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USAComplete Genom, Mountain View, CA 94043 USA
Purcell, Shaun M.
Lee, James J.
论文数: 0引用数: 0
h-index: 0
机构:
NIDDK, Math Biol Sect, LBM, NIH, Bethesda, MD 20892 USA
Univ Minnesota Twin Cities, Dept Psychol, Minneapolis, MN 55455 USAComplete Genom, Mountain View, CA 94043 USA
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Chang Gung Mem Hosp, Dept Ophthalmol, Tao Yuan, TaiwanCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Chen, Yen-Po
Hocking, Paul M.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Edinburgh, Roslin Inst, Dept Genet & Genom, Edinburgh, Midlothian, Scotland
Univ Edinburgh, Royal Dick Sch Vet Studies, Edinburgh EH9 1QH, Midlothian, ScotlandCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Hocking, Paul M.
Wang, Ling
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, WalesCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Wang, Ling
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机构:
Povazay, Boris
Prashar, Ankush
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Scottish Crop Res Inst, Invergowrie, ScotlandCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Prashar, Ankush
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机构:
To, Chi-Ho
Erichsen, Jonathan T.
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, WalesCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Erichsen, Jonathan T.
Feldkaemper, Marita
论文数: 0引用数: 0
h-index: 0
机构:
Univ Tubingen, Ophthalm Res Inst, Sect Neurobiol Eye, Tubingen, GermanyCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Feldkaemper, Marita
Hofer, Bernd
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Med Univ Vienna, Ctr Med Phys & Biomed Engn, Vienna, AustriaCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Hofer, Bernd
Drexler, Wolfgang
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Med Univ Vienna, Ctr Med Phys & Biomed Engn, Vienna, AustriaCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Drexler, Wolfgang
Schaeffel, Frank
论文数: 0引用数: 0
h-index: 0
机构:
Univ Tubingen, Ophthalm Res Inst, Sect Neurobiol Eye, Tubingen, GermanyCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Schaeffel, Frank
Guggenheim, Jeremy A.
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, WalesCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Bycroft, Clare
Freeman, Colin
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Freeman, Colin
Petkova, Desislava
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Procter & Gamble, Brussels, BelgiumUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Petkova, Desislava
Band, Gavin
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Band, Gavin
Elliott, Lloyd T.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Dept Stat, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Elliott, Lloyd T.
Sharp, Kevin
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Dept Stat, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Sharp, Kevin
Motyer, Allan
论文数: 0引用数: 0
h-index: 0
机构:
Univ Melbourne, Melbourne Integrat Genom, Parkville, Vic, Australia
Univ Melbourne, Sch Math & Stat, Parkville, Vic, Australia
Univ Melbourne, Sch BioSci, Parkville, Vic, AustraliaUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Motyer, Allan
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机构:
Vukcevic, Damjan
Delaneau, Olivier
论文数: 0引用数: 0
h-index: 0
机构:
Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
Univ Geneva, Swiss Inst Bioinformat, Geneva, Switzerland
Univ Geneva, Inst Genet & Genom Geneva, Geneva, SwitzerlandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Delaneau, Olivier
O'Connell, Jared
论文数: 0引用数: 0
h-index: 0
机构:
Illumina Ltd, Chesterford Res Pk, Saffron Walden, Essex, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
O'Connell, Jared
Cortes, Adrian
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, John Radcliffe Hosp, Div Clin Neurol, Nuffield Dept Clin Neu rosci, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Cortes, Adrian
Welsh, Samantha
论文数: 0引用数: 0
h-index: 0
机构:
UK Biobank, Stockport, Cheshire, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Welsh, Samantha
Young, Alan
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Li Ka Shing Ctr Hlth Informat & Discovery, Big Data Inst, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Young, Alan
Effingham, Mark
论文数: 0引用数: 0
h-index: 0
机构:
UK Biobank, Stockport, Cheshire, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Effingham, Mark
McVean, Gil
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, Li Ka Shing Ctr Hlth Informat & Discovery, Big Data Inst, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
McVean, Gil
Leslie, Stephen
论文数: 0引用数: 0
h-index: 0
机构:
Univ Melbourne, Melbourne Integrat Genom, Parkville, Vic, Australia
Univ Melbourne, Sch Math & Stat, Parkville, Vic, Australia
Univ Melbourne, Sch BioSci, Parkville, Vic, Australia
Murdoch Childrens Res Inst, Parkville, Vic, AustraliaUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Leslie, Stephen
Allen, Naomi
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Li Ka Shing Ctr Hlth Informat & Discovery, Big Data Inst, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Allen, Naomi
Donnelly, Peter
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, Dept Stat, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
Donnelly, Peter
Marchini, Jonathan
论文数: 0引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
Univ Oxford, Dept Stat, Oxford, EnglandUniv Oxford, Wellcome Ctr Human Genet, Oxford, England
机构:
Complete Genom, Mountain View, CA 94043 USA
BGI Cognit Genom Lab, Shenzhen 518083, Peoples R ChinaComplete Genom, Mountain View, CA 94043 USA
Chang, Christopher C.
Chow, Carson C.
论文数: 0引用数: 0
h-index: 0
机构:
NIDDK, Math Biol Sect, LBM, NIH, Bethesda, MD 20892 USAComplete Genom, Mountain View, CA 94043 USA
Chow, Carson C.
Tellier, Laurent C. A. M.
论文数: 0引用数: 0
h-index: 0
机构:
BGI Cognit Genom Lab, Shenzhen 518083, Peoples R China
Univ Copenhagen, Bioinformat Ctr, DK-2200 Copenhagen, DenmarkComplete Genom, Mountain View, CA 94043 USA
Tellier, Laurent C. A. M.
Vattikuti, Shashaank
论文数: 0引用数: 0
h-index: 0
机构:
NIDDK, Math Biol Sect, LBM, NIH, Bethesda, MD 20892 USAComplete Genom, Mountain View, CA 94043 USA
Vattikuti, Shashaank
Purcell, Shaun M.
论文数: 0引用数: 0
h-index: 0
机构:
Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA
Icahn Sch Med Mt Sinai, Div Psychiat Genom, Dept Psychiat, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Inst Genom & Multiscale Biol, New York, NY 10029 USA
Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USAComplete Genom, Mountain View, CA 94043 USA
Purcell, Shaun M.
Lee, James J.
论文数: 0引用数: 0
h-index: 0
机构:
NIDDK, Math Biol Sect, LBM, NIH, Bethesda, MD 20892 USA
Univ Minnesota Twin Cities, Dept Psychol, Minneapolis, MN 55455 USAComplete Genom, Mountain View, CA 94043 USA
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Chang Gung Mem Hosp, Dept Ophthalmol, Tao Yuan, TaiwanCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Chen, Yen-Po
Hocking, Paul M.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Edinburgh, Roslin Inst, Dept Genet & Genom, Edinburgh, Midlothian, Scotland
Univ Edinburgh, Royal Dick Sch Vet Studies, Edinburgh EH9 1QH, Midlothian, ScotlandCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Hocking, Paul M.
Wang, Ling
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, WalesCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Wang, Ling
论文数: 引用数:
h-index:
机构:
Povazay, Boris
Prashar, Ankush
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Scottish Crop Res Inst, Invergowrie, ScotlandCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Prashar, Ankush
论文数: 引用数:
h-index:
机构:
To, Chi-Ho
Erichsen, Jonathan T.
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, WalesCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Erichsen, Jonathan T.
Feldkaemper, Marita
论文数: 0引用数: 0
h-index: 0
机构:
Univ Tubingen, Ophthalm Res Inst, Sect Neurobiol Eye, Tubingen, GermanyCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Feldkaemper, Marita
Hofer, Bernd
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Med Univ Vienna, Ctr Med Phys & Biomed Engn, Vienna, AustriaCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Hofer, Bernd
Drexler, Wolfgang
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Med Univ Vienna, Ctr Med Phys & Biomed Engn, Vienna, AustriaCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Drexler, Wolfgang
Schaeffel, Frank
论文数: 0引用数: 0
h-index: 0
机构:
Univ Tubingen, Ophthalm Res Inst, Sect Neurobiol Eye, Tubingen, GermanyCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales
Schaeffel, Frank
Guggenheim, Jeremy A.
论文数: 0引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, WalesCardiff Univ, Sch Optometry & Vis Sci, Cardiff CF24 4LU, S Glam, Wales