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5 results on '"Tideman, J. Willem L."'

1. Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study.

Author

Cuellar-Partida G, Williams KM, Yazar S, Guggenheim JA, Hewitt AW, Williams C, Wang JJ, Kho PF, Saw SM, Cheng CY, Wong TY, Aung T, Young TL, Tideman JWL, Jonas JB, Mitchell P, Wojciechowski R, Stambolian D, Hysi P, Hammond CJ, Mackey DA, Lucas RM, and MacGregor S

Subjects
Adult, Aged, Australia, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Mendelian Randomization Analysis, Meta-Analysis as Topic, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Vitamin D genetics, Asian People genetics, Myopia blood, Myopia genetics, Vitamin D blood, White People genetics
Abstract

Background: Myopia prevalence has increased in the past 20 years, with many studies linking the increase to reduced time spent outdoors. A number of recent observational studies have shown an inverse association between vitamin D [25(OH)D] serum levels and myopia. However, in such studies it is difficult to separate the effects of time outdoors and vitamin D levels. In this work we use Mendelian randomization (MR) to assess if genetically determined 25(OH)D levels contribute to the degree of myopia., Methods: We performed MR using results from a meta-analysis of refractive error (RE) genome-wide association study (GWAS) that included 37 382 and 8 376 adult participants of European and Asian ancestry, respectively, published by the Consortium for Refractive Error And Myopia (CREAM). We used single nucleotide polymorphisms (SNPs) in the DHCR7, CYP2R1, GC and CYP24A1 genes with known effects on 25(OH)D concentration as instrumental variables (IV). We estimated the effect of 25(OH)D on myopia level using a Wald-type ratio estimator based on the effect estimates from the CREAM GWAS., Results: Using the combined effect attributed to the four SNPs, the estimate for the effect of 25(OH)D on refractive error was -0.02 [95% confidence interval (CI) -0.09, 0.04] dioptres (D) per 10 nmol/l increase in 25(OH)D concentration in Caucasians and 0.01 (95% CI -0.17, 0.19) D per 10 nmol/l increase in Asians., Conclusions: The tight confidence intervals on our estimates suggest the true contribution of vitamin D levels to degree of myopia is very small and indistinguishable from zero. Previous findings from observational studies linking vitamin D levels to myopia were likely attributable to the effects of confounding by time spent outdoors., (© The Author 2017; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association)

Published
2017
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2. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium.

Author

Fan Q, Guo X, Tideman JW, Williams KM, Yazar S, Hosseini SM, Howe LD, Pourcain BS, Evans DM, Timpson NJ, McMahon G, Hysi PG, Krapohl E, Wang YX, Jonas JB, Baird PN, Wang JJ, Cheng CY, Teo YY, Wong TY, Ding X, Wojciechowski R, Young TL, Pärssinen O, Oexle K, Pfeiffer N, Bailey-Wilson JE, Paterson AD, Klaver CC, Plomin R, Hammond CJ, Mackey DA, He M, Saw SM, Williams C, and Guggenheim JA

Subjects
Adolescent, Age of Onset, Child, Female, Gene-Environment Interaction, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Longitudinal Studies, Male, Asian People genetics, Myopia genetics, Polymorphism, Single Nucleotide, Refractive Errors genetics, White People genetics
Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Published
2016
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3. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

Author

Fan, Qiao, Guo, Xiaobo, Tideman, J Willem L, Williams, Katie M, Yazar, Seyhan, Hosseini, S Mohsen, Howe, Laura D, Pourcain, Beaté St, Evans, David M, Timpson, Nicholas J, McMahon, George, Hysi, Pirro G, Krapohl, Eva, Wang, Ya Xing, Jonas, Jost B, Baird, Paul Nigel, Wang, Jie Jin, Cheng, Ching-Yu, Teo, Yik-Ying, Wong, Tien-Yin, Ding, Xiaohu, Wojciechowski, Robert, Young, Terri L, Pärssinen, Olavi, Oexle, Konrad, Pfeiffer, Norbert, Bailey-Wilson, Joan E, Paterson, Andrew D, Klaver, Caroline CW, Plomin, Robert, Hammond, Christopher J, Mackey, David A, He, Mingguang, Saw, Seang-Mei, Williams, Cathy, Guggenheim, Jeremy A, CREAM Consortium, Hosseini, S Mohsen [0000-0003-3626-9928], and Apollo - University of Cambridge Repository

Subjects
Male, Adolescent, Refractive Errors, Polymorphism, Single Nucleotide, Article, White People, Asian People, Myopia, Humans, Female, Gene-Environment Interaction, Genetic Predisposition to Disease, Longitudinal Studies, Age of Onset, Child, Genome-Wide Association Study
Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Published
2016

4. A genome-wide association study of corneal astigmatism: The CREAM Consortium

Author

Shah, Rupal L., Li, Qing, Zhao, Wanting, Tedja, Milly S., Tideman, J. Willem L., Khawaja, Anthony P., Fan, Qiao, Yazar, Seyhan, Williams, Katie M., Verhoeven, Virginie J. M., Xie, Jing, Wang, Ya Xing, Hess, Moritz, Nickels, Stefan, Lackner, Karl J., Parssinen, Olavi, Wedenoja, Juho, Biino, Ginevra, Concas, Maria Pina, Uitterlinden, Andre, Rivadeneira, Fernando, Jaddoe, Vincent W. V., Hysi, Pirro G., Sim, Xueling, Tan, Nicholas, Tham, Yih-Chung, Sensaki, Sonoko, Hofman, Albert, Vingerling, Johannes R., Jonas, Jost B., Mitchell, Paul, Hammond, Christopher J., Hoehn, Rene, Baird, Paul N., Tien Y Wong, Cheng, Chinfsg-Yu, Teo, Yik Ying, Mackey, David A., Williams, Cathy, Saw, Seang-Mei, Klaver, Caroline C. W., Guggenheim, Jeremy A., Bailey-Wilson, Joan E., Epidemiology, Ophthalmology, Internal Medicine, and Pediatrics

Subjects
0301 basic medicine, Receptor, Platelet-Derived Growth Factor alpha, Acid Phosphatase, Gene Expression, 610 Medicine & health, biomarkkerit, Polymorphism, Single Nucleotide, White People, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Corneal Diseases, Cohort Studies, Cornea, 03 medical and health sciences, 0302 clinical medicine, Asian People, Odds Ratio, Humans, Genetic Predisposition to Disease, sarveiskalvo, geenit, Intracellular Signaling Peptides and Proteins, Astigmatism, 030104 developmental biology, silmätaudit, Claudins, genetic markers, 030221 ophthalmology & optometry, corneal astigmatism, Software, silmät, Research Article, Genome-Wide Association Study
Abstract

Contains fulltext : 191261.pdf (Publisher’s version ) (Open Access) Purpose: To identify genes and genetic markers associated with corneal astigmatism. Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression. Results: The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha (PDGFRA) gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08-1.16), p=5.55x10(-9). No other genome-wide significant loci were identified in the combined analysis or European/Asian ancestry-specific analyses. Gene-based analysis identified three novel candidate genes for corneal astigmatism in Europeans-claudin-7 (CLDN7), acid phosphatase 2, lysosomal (ACP2), and TNF alpha-induced protein 8 like 3 (TNFAIP8L3). Conclusions: In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. The much lower number of genetic variants and genes demonstrating an association with corneal astigmatism compared to published spherical equivalent GWAS analyses suggest a greater influence of rare genetic variants, non-additive genetic effects, or environmental factors in the development of astigmatism.

5. Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Author

Fan, Qiao, Pozarickij, Alfred, Tan, Nicholas YQ, Guo, Xiaobo, Verhoeven, Virginie JM, Vitart, Veronique, Guggenheim, Jeremy A, Miyake, Masahiro, Tideman, J Willem L, Khawaja, Anthony P, Zhang, Liang, MacGregor, Stuart, Höhn, René, Chen, Peng, Biino, Ginevra, Wedenoja, Juho, Saffari, Seyed Ehsan, Tedja, Milly S, Xie, Jing, Lanca, Carla, Wang, Ya Xing, Sahebjada, Srujana, Mazur, Johanna, Mirshahi, Alireza, Martin, Nicholas G, Yazar, Seyhan, Pennell, Craig E, Yap, Maurice, Haarman, Annechien EG, Enthoven, Clair A, Polling, JanRoelof, Consortium For Refractive Error And Myopia (CREAM), UK Biobank Eye And Vision Consortium, Hewitt, Alex W, Jaddoe, Vincent WV, Van Duijn, Cornelia M, Hayward, Caroline, Polasek, Ozren, Tai, E-Shyong, Yoshikatsu, Hosoda, Hysi, Pirro G, Young, Terri L, Tsujikawa, Akitaka, Wang, Jie Jing, Mitchell, Paul, Pfeiffer, Norbert, Pärssinen, Olavi, Foster, Paul J, Fossarello, Maurizio, Yip, Shea Ping, Williams, Cathy, Hammond, Christopher J, Jonas, Jost B, He, Mingguang, Mackey, David A, Wong, Tien-Yin, Klaver, Caroline CW, Saw, Seang-Mei, Baird, Paul N, and Cheng, Ching-Yu

Subjects
genetic structures, Corneal Topography, Polymorphism, Single Nucleotide, Risk Assessment, eye diseases, White People, 3. Good health, Cornea, Axial Length, Eye, Refractometry, Phenotype, Asian People, Genetic Loci, Risk Factors, Databases, Genetic, Myopia, Humans, Gene Regulatory Networks, Genetic Predisposition to Disease, sense organs, 10. No inequality, Genome-Wide Association Study
Abstract

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.

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