publication . Article . 2020

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

Fan, Qiao; Pozarickij, Alfred; Tan, Nicholas Y. Q.; Guo, Xiaobo; Verhoeven, Virginie J. M.; Vitart, Veronique; Guggenheim, Jeremy A.; Miyake, Masahiro; Tideman, J. Willem L.; Khawaja, Anthony P.; ...
Open Access English
  • Published: 19 Mar 2020
Abstract
Qiao Fan et al. report a genome-wide association analysis of corneal curvature—an important measurement for identifying vision problems, such as myopia—in more than 45,000 individuals of either European or Asian ancestry. They identify 47 loci, 26 of which are novel, with some showing population-specific effects and pleiotropic effects on eye elongation and myopia.
Subjects
Medical Subject Headings: genetic structureseye diseasessense organs
free text keywords: geneettiset tekijät, likinäköisyys, OCULAR COMPONENT DIMENSIONS, SPHERICAL EQUIVALENT, EXPRESSION PATTERNS, EYE SIZE, VARIANTS, MULTIPLE, HERITABILITY, KERATOCONUS, POPULATION, COLLAGEN, 3111 Biomedicine, 3125 Otorhinolaryngology, ophthalmology, Article, Genome-wide association studies, Genetic predisposition to disease, Corneal diseases, Biology (General), QH301-705.5
91 references, page 1 of 7

1. Dandona, L. & Dandona, R. What is the global burden of visual impairment? BMC Med. 4, 6-6 (2006). [OpenAIRE]

2. Holden, B. A. et al. Global prevalence of myopia and high myopia and temporal trends from 2000 through 2050. Ophthalmology 123, 1036-1042 (2016).

3. Flaxman, S. R. et al. Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis. Lancet Glob. Health 5, e1221-e1234 (2017).

4. Atchison, D.A. & George, S. Optics of the human eye, 288-288 (ButterworthHeinemann, 2000). [OpenAIRE]

5. Ip, J. M. et al. Ethnic differences in refraction and ocular biometry in a population-based sample of 11-15-year-old Australian children. Eye 22, 649-656 (2008).

6. Kleinstein, R. N. et al. Refractive error and ethnicity in children. Arch. Ophthalmol. 121, 1141-1141 (2003). [OpenAIRE]

7. Lim, L. S. et al. Distribution and determinants of ocular biometric parameters in an Asian population: the Singapore Malay eye study. Invest Ophthalmol. Vis. Sci. 51, 103-109 (2010).

8. Lyhne, N., Sjolie, A. K., Kyvik, K. O. & Green, A. The importance of genes and environment for ocular refraction and its determiners: a population based study among 20-45 year old twins. Br. J. Ophthalmol. 85, 1470-1476 (2001). [OpenAIRE]

9. Cagigrigoriu, A., Gregori, D., Cortassa, F., Catena, F. & Marra, A. Heritability of corneal curvature and astigmatism: a videokeratographic child-parent comparison study. Cornea 26, 907-912 (2007). [OpenAIRE]

10. Klein, A. P. et al. Heritability analysis of spherical equivalent, axial length, corneal curvature, and anterior chamber depth in the Beaver Dam Eye Study. Arch. Ophthalmol. 127, 649-655 (2009).

11. Guggenheim, J. A. et al. A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor alpha gene as a quantitative trait locus for eye size in white Europeans. Molecular Vision 19, 243-253 (2013). [OpenAIRE]

12. Guggenheim, J. A. et al. Coordinated genetic scaling of the human eye: shared determination of axial eye length and corneal curvature. Investigative Ophthalmol. Vis. Sci. 54, 1715-1721 (2013).

13. Tedja, M. S. et al. Genome-wide association meta-analysis highlights lightinduced signaling as a driver for refractive error. Nat. Genet 50, 834-848 (2018). [OpenAIRE]

14. Verhoeven, V. J. M. et al. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat. Genet. 45, 314-318 (2013).

15. Kiefer, A. K. et al. Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia. PLoS Genet. 9, e1003299-e1003299 (2013).

91 references, page 1 of 7
Abstract
Qiao Fan et al. report a genome-wide association analysis of corneal curvature—an important measurement for identifying vision problems, such as myopia—in more than 45,000 individuals of either European or Asian ancestry. They identify 47 loci, 26 of which are novel, with some showing population-specific effects and pleiotropic effects on eye elongation and myopia.
Subjects
Medical Subject Headings: genetic structureseye diseasessense organs
free text keywords: geneettiset tekijät, likinäköisyys, OCULAR COMPONENT DIMENSIONS, SPHERICAL EQUIVALENT, EXPRESSION PATTERNS, EYE SIZE, VARIANTS, MULTIPLE, HERITABILITY, KERATOCONUS, POPULATION, COLLAGEN, 3111 Biomedicine, 3125 Otorhinolaryngology, ophthalmology, Article, Genome-wide association studies, Genetic predisposition to disease, Corneal diseases, Biology (General), QH301-705.5
91 references, page 1 of 7

1. Dandona, L. & Dandona, R. What is the global burden of visual impairment? BMC Med. 4, 6-6 (2006). [OpenAIRE]

2. Holden, B. A. et al. Global prevalence of myopia and high myopia and temporal trends from 2000 through 2050. Ophthalmology 123, 1036-1042 (2016).

3. Flaxman, S. R. et al. Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis. Lancet Glob. Health 5, e1221-e1234 (2017).

4. Atchison, D.A. & George, S. Optics of the human eye, 288-288 (ButterworthHeinemann, 2000). [OpenAIRE]

5. Ip, J. M. et al. Ethnic differences in refraction and ocular biometry in a population-based sample of 11-15-year-old Australian children. Eye 22, 649-656 (2008).

6. Kleinstein, R. N. et al. Refractive error and ethnicity in children. Arch. Ophthalmol. 121, 1141-1141 (2003). [OpenAIRE]

7. Lim, L. S. et al. Distribution and determinants of ocular biometric parameters in an Asian population: the Singapore Malay eye study. Invest Ophthalmol. Vis. Sci. 51, 103-109 (2010).

8. Lyhne, N., Sjolie, A. K., Kyvik, K. O. & Green, A. The importance of genes and environment for ocular refraction and its determiners: a population based study among 20-45 year old twins. Br. J. Ophthalmol. 85, 1470-1476 (2001). [OpenAIRE]

9. Cagigrigoriu, A., Gregori, D., Cortassa, F., Catena, F. & Marra, A. Heritability of corneal curvature and astigmatism: a videokeratographic child-parent comparison study. Cornea 26, 907-912 (2007). [OpenAIRE]

10. Klein, A. P. et al. Heritability analysis of spherical equivalent, axial length, corneal curvature, and anterior chamber depth in the Beaver Dam Eye Study. Arch. Ophthalmol. 127, 649-655 (2009).

11. Guggenheim, J. A. et al. A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor alpha gene as a quantitative trait locus for eye size in white Europeans. Molecular Vision 19, 243-253 (2013). [OpenAIRE]

12. Guggenheim, J. A. et al. Coordinated genetic scaling of the human eye: shared determination of axial eye length and corneal curvature. Investigative Ophthalmol. Vis. Sci. 54, 1715-1721 (2013).

13. Tedja, M. S. et al. Genome-wide association meta-analysis highlights lightinduced signaling as a driver for refractive error. Nat. Genet 50, 834-848 (2018). [OpenAIRE]

14. Verhoeven, V. J. M. et al. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat. Genet. 45, 314-318 (2013).

15. Kiefer, A. K. et al. Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia. PLoS Genet. 9, e1003299-e1003299 (2013).

91 references, page 1 of 7
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