imi myopia genetics report

International HapMap Consortium. IMI - Myopia Control Reports Overview and Introduction. Functional studies are needed to provide evidence for this theory. miRNAs have been a hot topic in past years due to the potential clinical application of these small RNA sequences: accessibility of the retina for miRNA-based therapeutic delivery has great potential for preventing and treating retinal pathology.148 In a case-control study, Liang et al.149 identified a genetic variant, rs662702, that was associated with the risk of extreme myopia in a Taiwanese population. ZNF644.118,119 Although most genetic variants displayed an autosomal dominant hereditary pattern,108,112,118,119 X-linked heterozygous mutations were identified in ARR3, only in female family members.114 The functions of these novel genes include DNA transcription (CCDC111, ZNF644), mitochondrial function (NDUFAF7, SCO2), collagen synthesis (P4HA2), cell signaling (UNC5D, BSG), retina-specific signal transduction (ARR3), TGF-beta pathway (LOXL3, SLC39A5, LRPAP1), and degradation of proteins in lysosomes (CTSH). Chen K-C, Hsi E, Hu C-Y, Chou W-W, Liang C-L, Juo S-HH. A study investigating GxE interactions in children and the major environmental risk-factors, nearwork, time outdoors, and 39 SNPs derived from the CREAM meta-GWAS revealed nominal evidence of interaction with nearwork (top variant in ZMAT4).133,134. As most of the phenotypic variance of refractive errors is still unexplained, larger sample sizes are required with deeper coverage of the genome. Williams KM, Bertelsen G, Cumberland P, et al. The predictive value (area under the curve) of these risk scores for myopia versus hyperopia, adjusted for age and sex, was 0.77 (95% CI0.750.79). M.S. They are able to bind to 3 untranslated regions (UTRs) on RNA polymers by sequence-specific posttranscriptional gene silencing; one miRNA can regulate the translation of many genes. The heritability of refractive error, using spherical equivalent as a quantitative trait, has been determined in a number of families and twin studies.18 The estimates resulting from these studies calculated heritabilities from 15% to 98%.5,710 However, it is important to note that this does not necessarily imply that most refractive error is genetic; familial clustering also can be determined by other factors.11, Like many other traits, common myopia has a complex etiology that is influenced by an interplay of genetic and environmental factors.12 The current evidence, as summarized in this review, indicates that it is likely to be caused by many genes, each contributing a small effect to the overall myopia risk. Li Y-J, Goh L, Khor C-C, et al. Is Myopia More Genetic or Environmental? Genetic variants near PDGFRA are associated with corneal curvature in Australians. Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia. Risk factors for myopia in a discordant monozygotic twin study. Specific topics reviewed included common refractive error, any and high myopia, and myopia related to syndromes. A novel genetic variant of BMP2K contributes to high myopia. Verhoeven VJM, Hysi PG, Saw S-M, et al. Xie et al.151 analyzed rs157907 A/G in miR-29a and rs10877885 C/T in let-7i in a severe myopia case-control study (Ncases = 254; Ncontrols = 300). IMI - Myopia Genetics Report - OneSight EssilorLuxottica Foundation Kanemaki N, Meguro A, Yamane T, et al. Subsequently, a GWAS meta-analysis of two ethnic Chinese cohorts was performed in 287 cases of high myopia (defined as 6 diopters [D]) and 673 controls. Simpson CL, Wojciechowski R, Yee SS, Soni P, Bailey-Wilson JE, Stambolian D. Regional replication of association with refractive error on 15q14 and 15q25 in the Age-Related Eye Disease Study cohort. Richard Spaide. ; Practitioner considerations such as gaining informed consent and patient and parent communication are detailed. TGFbeta-induced factor: a candidate gene for high myopia. Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese. The conclusion from these studies was that education appears truly causally related to myopia, and effects calculated by the current observational studies may be underestimated. Chandra A, Mitry D, Wright A, Campbell H, Charteris DG. Heritability statistics can be used to estimate the proportion of variation in a phenotypic trait of a population that is due to genetics, and further details can be found in the accompanying IMI - Myopia Genetics Report. IMI - Myopia Genetics Report Helsingin yliopisto The knowledge on the genetic background of refractive error and myopia has expanded dramatically in the past few years. Hawthorne FA, Young TL. Miyake M, Yamashiro K, Nakanishi H, et al. Several genes for secondary syndromic myopia overlap with those for common myopia. GEWIS, using all variants from the CREAM meta-GWAS, revealed three novel loci (AREG, GABRR1, and PDE10A) for GxE in Asian populations, whereas no interaction effects were observed in Europeans due to many reasons, such as the quantitative differences in the intensity of nearwork during childhood.48 Up to now, there is no robust evidence that there are fundamental differences in the genetic background of myopia risk between European and Asian individuals. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. Candidate genes are generally selected based on their known biological, physiological, or functional relevance to the disease. Mokry LE, Ahmad O, Forgetta V, Thanassoulis G, Richards JB. Genetic variants of the DHCR7, CYP2R1, GC, and CYP24A1 genes with known effects on serum levels of vitamin D were used as instrumental variables in a meta-analysis of refractive error in CREAM (NEUR = 37,382 and NASN = 8,376). Shi Y, Qu J, Zhang D, et al. Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL. Zayats T, Yanovitch T, Creer RC, et al. Stambolian D. Genetic susceptibility and mechanisms for refractive error. The association of haplotype at the lumican gene with high myopia susceptibility in Taiwanese patients. 6 Citations Abstract Myopia is the most common eye condition worldwide and its prevalence is increasing. Yu Z, Zhou J, Chen X, Zhou X, Sun X, Chu R. Polymorphisms in the CTNND2 gene and 11q24.1 genomic region are associated with pathological myopia in a Chinese population. Correspondence: Caroline C. W. Klaver, Erasmus Medical Center, Room Na-2808, P.O. Lumican and muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia. Veerappan S, Pertile KK, Islam AFM, et al. IMI - Myopia Genetics Report. They represent other changes of the helix structure, such as DNA methylation and histone modification,143 and these changes can regulate gene expression. Several genes for secondary syndromic myopia overlap with those for common myopia. In 2013, two papers reported loci for high myopia in Asian populations and these were successfully replicated. This miRNA is the most abundant one in the cornea and the crystalline lens, and sequence mutations have been associated with severe keratoconus with early-onset anterior polar cataract. Lu B, Jiang D, Wang P, et al. A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1. Full-text available. Focusing in on the complex genetics of myopia. This Committee recommends expanding large-scale genetic studies to further identify the molecular mechanisms through which environmental influences cause myopia (gene-by-environment effects), with an ultimate view to develop targeted treatments. Liu J, Zhang H-X. SLC39A5,116 P4HA2,108 Wojciechowski R. Nature and nurture: the complex genetics of myopia and refractive error. Metlapally R, Ki C-S, Li Y-J, et al. IMI - Myopia Genetics Report. Lin H-J, Wan L, Tsai Y, et al. Overview of Secondary Syndromic Forms of Myopia: Ocular Syndromes Associated With Myopia. This Committee recommends expanding large-scale, in-depth genetic studies using complementary big data analytics, consideration of gene-environment effects by thorough measurement of environmental exposures, and focus on subgroups with extreme phenotypes and high familial occurrence. The current genetic findings offer a world of new molecules involved in myopiagenesis. The association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to Chinese high myopia. Epigenetics: definition, mechanisms and clinical perspective. Pickrell JK, Berisa T, Liu JZ, Sgurel L, Tung JY, Hinds DA. Genome-wide scan of African-American and white families for linkage to myopia. It is clear that the trait is complex, with many genetic variants of small effect that are expressed in all retinal layers, often with a known function in neurotransmission or extracellular matrix. Effect sizes of SNPs associated with disease are mostly small, requiring very large study samples to reach statistical significance.13,14 Fortunately, technological advances have lowered the costs of genotyping considerably over the years,67 and GWAS on hundreds of thousands of individuals are becoming more common. A listing of the IMI committee members, in particular the IMI Myopia Genetics Report, and the white paper itself can be found at https://www.myopiainstitute.org/imi-white-papers.html. Haarman; Caroline C W Klaver [.] [PDF] IMI - Myopia genetics report - ResearchGate Tkatchenko AV, Tkatchenko TV, Guggenheim JA, et al. Nearsightedness, also known as myopia, is a visual impairment that causes a person to see far away objects less clearly. Nishizaki R, Ota M, Inoko H, et al. Increased prevalence of myopia in the United States between 19711972 and 19992004. Genetics of myopia: Gene finding and beyond | Request PDF - ResearchGate In myopia, these were singularly unsuccessful, and before 2009, there were no genes known for common myopia occurring in the general population. Careers, Unable to load your collection due to an error. The International Myopia Institute (IMI) reports the critical review and synthesis of the research evidence to date, from animal models, genetics, clinical studies, and randomized controlled . The International Myopia Institute provided funds to cover publication costs. Ho DWH, Yap MKH, Ng PW, Fung WY, Yip SP. The case-control design using (high) myopia as a dichotomous outcome has been especially popular in East Asia. A genome-wide scan maps a novel high myopia locus to 5p15. IMI - Myopia Genetics Report (CREAM Consortium) Tedja, Milly S.; Haarman, Annechien E. G.; Meester-Smoor, Magda A.; Kaprio, Jaakko; Mackey, David A.; Guggenheim, Jeremy A.; Hammond, Christopher J.; Verhoeven, Virginie J. M.; Klaver, Caroline C. W.; for the CREAM Consortium Guggenheim, None; C.J. Heritability and shared environment estimates for myopia and associated ocular biometric traits: the Genes in Myopia (GEM) family study. Tran-Viet K-N, Powell C, Barathi VA, et al. Guggenheim JA. The first case-control GWAS was performed in a Japanese cohort in 2009.68 It comprised 830 cases of pathologic myopia (defined as axial length >26 mm) and 1911 controls from the general population. The ultimate aim of genetic studies is to discern the molecular signaling cascade and open up new avenues for intervention. Zhu X-J, Zhou P, Zhang K-K, Yang J, Luo Y, Lu Y. Epigenetic regulation of A-crystallin in high myopia-induced dark nuclear cataract. A number of inherited retinal dystrophies also present with myopia, most strikingly X-linked retinitis pigmentosa caused by mutations in the RPGR-gene (retinal G proteincoupled receptor) (see Ref. MR suggested the true causal effect was stronger: 0.27 D per year (95% CI 0.37 to 0.17; P = 4.08). Table 3 from IMI - Myopia Genetics Report | Semantic Scholar Subsequently, results of three cohorts (Cooperative Health Research in the Region Augsburg [KORA], AREDS, Blue Mountain Eye Study [BMES]; total N = 5649) were meta-analyzed. 1. Kim MH, Zhao D, Kim W, et al. Verhoeven VJM, Buitendijk GHS, Rivadeneira F.et al. The G allele of the rs157907 locus was significantly associated with decreased risk of severe myopia (P = 0.04), launching the hypothesis that rs157907 A/G might regulate miR-29a expression levels. Crossref; PubMed; Scopus (102) Google Scholar; P value was calculated using the chi-square test or exact test (myopia parents) for categorical variables and the t test (GRS, age at inclusion, and age of stabilization) or Mann-Whitney U test (RE, AL, age of . Furthermore, by examining known protein-protein interactions, the investigators identified that many genes are related to cell-cycle and growth pathways, such as the MAPK and TGF-beta/SMAD pathways. Tideman JWL, Polling JR, Voortman T, et al. Khor CC, Grignani R, Ng DPK, et al. Lisa A Ostrin. Zha Y, Leung KH, Lo KK, et al. Development of refractive errorswhat can we learn from inherited retinal dystrophies? Historic overview of myopia gene finding. Guggenheim JA, St. Pourcain B, McMahon G, Timpson NJ, Evans DM, Williams C. Assumption-free estimation of the genetic contribution to refractive error across childhood. IMI 2021 Yearly Digest - PMC - National Center for Biotechnology Nakanishi H, Yamada R, Gotoh N, et al. The Consortium for Refractive Error and Myopia (CREAM) and 23andMe published findings from GWAS separately, and later combined studies in a GWAS meta-analysis, identifying 161 common variants for refractive error but explaining only approximately 8% of the phenotypic variance of this trait. A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor gene as a quantitative trait locus for eye size in white Europeans. Table 2 from IMI - Myopia Genetics Report | Semantic Scholar Smith GD, Ebrahim S. Mendelian randomization: prospects, potentials, and limitations. Bold: genes identified for both common refractive error and in syndromic myopia. 9-14 In addition, a digest th. 2019; 60: M89-M105. Paluru P, Ronan SM, Heon E, et al. The genetic loci appear to play a role in synaptic transmission, cell-cell adhesion, calcium ion binding, cation channel activity, and the plasma membrane. Jin Z-B, Wu J, Huang X-F, et al. Several relatively small GWAS have been performed for corneal curvature, and identified associations with FRAP1, PDGFRA (also associated with eye size), CMPK1, and RBP3.93,98101 More recently Miyake et al.101,102 published a two-stage GWAS for three myopia-related traits: axial length, corneal curvature, and refractive error. Exome sequence analysis of 14 families with high myopia. Two SNPs (rs1939008 and rs9928731) that were first found to be associated with refraction in Amish families were also associated in a lower but not in the higher education group of the Age-Related Eye Disease Study (AREDS) study. IMI - Myopia Control Reports Overview and Introduction - PMC IMI - Myopia Genetics Report @article{Tedja2019IMIM, title={IMI - Myopia Genetics Report}, author={Milly S. Tedja and Annechien E. G. Haarman and Magda A. Meester-Smoor and Jaakko A Kaprio and David A. Mackey and Jeremy A. Guggenheim and Christopher J. Hammond and Virginie J. M. Verhoeven and Caroline C. W. Klaver}, journal={Investigative . Genomewide linkage scans for ocular refraction and meta-analysis of four populations in the Myopia Family Study. In Europe, a French case-control GWAS was performed on 192 high myopia cases ( 6 D) and 1064 controls, and a suggestive association was identified within the MYP10 linkage locus, 3 kb downstream of protein phosphatase 1 regulatory subunit 3B (PPP1R3B). Annotated genes have a wide variety of functions, and all retinal layers appear to be sites of expression. VJMV and CCWK contributed equally to the work presented here and should therefore be regarded as equivalent senior authors. This new GWAS meta-analysis was based on the phase 1 version 3 release of 1000G, included 160,420 participants, and findings were replicated in the UK Biobank (95,505 participants). Songhomitra Panda-Jonas. National Center for Biotechnology Information. Heritability analysis of spherical equivalent, axial length, corneal curvature, and anterior chamber depth in the Beaver Dam Eye Study. Stambolian D, Ibay G, Reider L, et al. Ku CS, Loy EY, Pawitan Y, Chia KS. Mendelian randomization (MR) is a method that allows one to test or estimate a causal effect from observational data in the presence of confounding factors. Expanding our knowledge of pathologic mechanisms and ability to pinpoint at-risk individuals will lead to new therapeutic options, better patient management, and, ultimately, prevention of complications and visual impairment from myopia. CCDC102B confers risk of low vision and blindness in high myopia. Moreover, epigenetic changes are tissue- and time-specific, so it is essential to study the right tissue at the correct developmental stage. Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Li et al.73 studied 102 high myopia cases (defined as 8 D with retinopathy) and 335 controls in an ethnic Chinese population. IMI Myopia Genetics Report - Myopia Institute The first series of International Myopia Institute (IMI) white papers was published early in 2019 in response to the growing need for consensus and clinical management guidance on the ever growing, and sometimes conflicting, evidence base around myopia development and management. Sanfilippo PG, Hewitt AW, Hammond CJ, Mackey DA. A twin study on myopia in Chinese school children. Large consortia performing GWAS enabled identification of common genetic variants associated with refractive error and myopia. Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population. In particular genome-wide association studies (GWAS) have successfully identified many common genetic variants associated with myopia and refractive error. Milly S. Tedja, 1, 2 Annechien E. G. Haarman, 1, 2 Magda A. Meester-Smoor, 1, 2 Jaakko Kaprio, 3, 4 David A. Mackey, 5 7 Jeremy A. Guggenheim, 8 Christopher J. Hammond, 9 Virginie J. M. Verhoeven, 1, 2, 10 Caroline C. W. Klaver, 1, 2, 11 and for the CREAM Consortium . This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. Hysi et al.106 performed pathway analyses using both the CREAM and 23andMe GWAS, and reported that plasma membrane, cell-cell adhesion, synaptic transmission, calcium ion binding, and cation channel activity were significantly overrepresented in refractive error in two British cohorts. However, this association did not reach genome-wide statistical significance, and no previously reported loci were replicated.78 Later, in 2016, the direct-to-consumer genetic testing company 23andMe (Mountain View, CA, USA) published a large GWAS on self-reported myopia (Ncases = 106,086 and Ncontrols These include genetics, environmental factors, and the latest effective options to manage myopia over time. [PDF] IMI - Myopia Genetics Report | Semantic Scholar Several attempts were made to translate the findings from refractive error GWAS into this cascade.87,89,104 Here we provide an overview of genes annotated to the risk variants and their relationship to the underlying biological mechanism. Experimental murine myopia induces collagen type I1 (COL1A1) DNA methylation and altered COL1A1 messenger RNA expression in sclera. Wojciechowski R, Congdon N, Bowie H, Munoz B, Gilbert D, West SK. Update and guidance on management of myopia. European Society of Meester-Smoor, None; J. Kaprio, None; D.A. The association of single nucleotide polymorphisms in the 5-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan. Animal models are often used as a first step before moving to humans, although epigenetic processes are not always conserved across species. Summary For many years, it has been recognized that myopia is highly heritable, but only recently has significant progress been made in dissecting the genetic background. IMI - Myopia Genetics Report | IOVS | ARVO Journals The main goal of GWAS is to improve insight on the molecules involved in disease, and help identify disease mechanisms. Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Verhoeven VJM, Hysi PG, Wojciechowski R, et al. UNC5D,111 Ng TK, Lam CY, Lam DSC, et al. Lin H-J, Wan L, Chen W-C, Lin J-M, Lin C-J, Tsai F-J. Invest Ophthalmol Vis Sci. Eighty years ago, Sir Duke-Elder was one of the first to recognize a hereditary tendency to myopia.16 Since then, evidence for familial aggregation has been delivered by various familial clustering, twin, and offspring studies,14 and a genetic predisposition became more widely recognized. Deducted from the CREAM GWAS, pathways included neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2, BMP2), and eye development (SIX6, PRSS56). IMI Clinical management myopia guidelines report Oishi M, Yamashiro K, Miyake M, et al. IMI Myopia Genetics Report . Mutations in LRPAP1 are associated with severe myopia in humans. With the growing prevalence of myopia, already at epidemic levels in some countries, there . Investigative Ophthalmology & Visual Science. Notably, RGR, RP1L1, RORB, and GNB3 were present in all of these meta-gene sets. Although CREAM and 23andMe found a large number of loci, only approximately 3% of the phenotypic variance of refractive error was explained.87,89 Larger GWAS meta-analyses were clearly needed, and the two large studies combined efforts. Kiefer AK, Tung JY, Do CB, et al. Haarman Erasmus MC Magda A Meester-Smoor Erasmus MC Jaakko Kaprio Abstract and Figures The knowledge on the. Mackey, None; J.A. In a similar ethnic Han Chinese population of 419 high myopia cases ( 6 D) and 669 controls, Shi et al.73,74 identified the strongest association (P = 1.91 1016) at an intronic, high-frequency variant within the mitochondrial intermediate peptidase (MIPEP) gene on 13q12. WGS allows for identification of variants across the entire genome, but requires a high-throughput computational infrastructure and remains costly. Haarman, None; M.A. Wojciechowski R, Yee SS, Simpson CL, Bailey-Wilson JE, Stambolian D. Matrix metalloproteinases and educational attainment in refractive error: evidence of gene-environment interactions in the Age-Related Eye Disease Study. LRPAP1,117 Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. Using this approach, the number of validated refractive error loci increased to 161. Lyhne N, Sjlie AK, Kyvik KO, Green A. . Annotated genes have a wide variety of functions, and all retinal layers appear to be sites of expression. Dawn Teare M, Barrett JH. Identification and replication of three novel myopia common susceptibility gene loci on chromosome 3q26 using linkage and linkage disequilibrium mapping. In 2010, the first GWAS for spherical equivalent were carried out in two European populations: a British cohort of 4270 individuals and a Dutch cohort of 5328 individuals.80,81 Two loci surpassed the GWAS threshold and were replicated: one near the RASGFR1 gene on 15q25.1 (P = 2.70 1009) and the other near GJD2 on 15q14 (P = 2.21 1014). A functional polymorphism at 3UTR of the PAX6 gene may confer risk for extreme myopia in the Chinese. The first, published in 2016, explored the effect of education on myopia.138 This study constructed polygenic risk scores of genetic variants found in GWAS for educational attainment, and used these as the instrumental variable. Zou Y-C, Lei J-H, Wang Y, Xu S. Correlation between polymorphisms in the MFN1 gene and myopia in Chinese population. TGFB1 as a susceptibility gene for high myopia: a replication study with new findings. GWAS for myopia have been performed using myopia as a dichotomous outcome or refractive error as a quantitative trait. For many years, it has been recognized that myopia is highly heritable, but only recently has significant progress been made in dissecting the genetic background. However, with the advent of GWAS, many refractive error genes associated with myopia have been identified, providing potential new insights into the molecular machinery underlying myopia, and perhaps promising leads for future therapies. 1Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands, 2Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands, 3Institute for Molecular Medicine, University of Helsinki, Helsinki, Finland, 4Department of Public Health, University of Helsinki, Helsinki, Finland, 5Centre for Eye Research Australia, Ophthalmology, Department of Surgery, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia, 6Department of Ophthalmology, Menzies Institute of Medical Research, University of Tasmania, Hobart, Tasmania, Australia, 7Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia, 8School of Optometry and Vision Sciences, Cardiff University, Cardiff, United Kingdom, 9Section of Academic Ophthalmology, School of Life Course Sciences, King's College London, London, United Kingdom, 10Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands, 11Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands. Trio-based exome sequencing arrests de novo mutations in early-onset high myopia. The strongest association (P = 7.70 1013) was a high-frequency variant located in a gene desert within the MYP11 myopia linkage locus on 4q25. IMI - Myopia Genetics Report @article{Tedja2019IMIM, title={IMI - Myopia Genetics Report}, author={Milly S. Tedja and Annechien E G Haarman and Magda A. Meester-Smoor and Jaakko A Kaprio and David A. Mackey and Jeremy A. Guggenheim and Christopher J. Hammond and Virginie J. M. Verhoeven and Caroline C. W. Klaver}, journal={Investigative . Sclera-related gene polymorphisms in high myopia. Next steps should include all the novel technological advances for dissecting complex disorders, such as expansion of omics (such as genomics, transcriptomics, proteomics, and metabolomics), using multisource study populations, environmental genomics, and systems biology to organically integrate findings and improve our understanding of myopia development in a quantitative way via big data analytics (i.e., combining multi-omics and other approaches with deep learning or artificial intelligence). This white paper aims to address the recent developments in genetic dissection of common refractive errors, in particular myopia. Exomes are interesting, as they directly contribute to protein translation, but they constitute only approximately 1% of the entire genome. 23andMe also replicated GJD2, RASGRF1, and RFBOX1 and identified 11 new loci: BMP3, BMP4, DLG2, DLX1, KCNMA1, LRRC4C, PABPCP2, PDE11A, RGR, ZBTB38, ZIC2.89 Of the 22 loci discovered by CREAM, 8 were replicated by 23andMe, and 16 of the 20 loci identified by 23andMe were confirmed by CREAM. Polygenic risk scores show overrepresentation of high myopia in the higher deciles of risk. Mishra A, Yazar S, Hewitt AW, et al. Scholars@Duke publication: IMI - Myopia Genetics Report. In particular genome-wide association studies (GWAS) have successfully identified many common genetic variants associated with myopia and refractive error. Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands. Zhou X, Ji F, An J, et al. Tedja MS, Wojciechowski R, Hysi PG, et al. For myopia, a retina-to-sclera signaling cascade had been proposed for many years (see accompanying paper IMI Report on Experimental Models of Emmetropization and Myopia103), but knowledge on its molecular drivers was limited.
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