A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

Pirro G Hysi; Terri L Young; David A Mackey; Toby Andrew; Alberto Fernández-Medarde; Abbas M Solouki; Alex W Hewitt; Stuart Macgregor; Johannes R Vingerling; Yi-Ju Li; M Kamran Ikram; Lee Yiu Fai; Pak C Sham; Lara Manyes; Angel Porteros; Margarida Cabrita Lopes; Francis Carbonaro; Samantha J Fahy; Nicholas G Martin; Cornelia M van Duijn; Timothy D Spector; Jugnoo S Rahi; Eugenio Santos; Caroline C W Klaver; Christopher J Hammond

doi:10.1038/ng.664

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

Pirro G Hysi, Terri L Young, David A Mackey, Toby Andrew, Alberto Fernández-Medarde, Abbas M Solouki, Alex W Hewitt, Stuart Macgregor, Johannes R Vingerling, Yi-Ju Li, M Kamran Ikram, Lee Yiu Fai, Pak C Sham, Lara Manyes, Angel Porteros, Margarida Cabrita Lopes, Francis Carbonaro, Samantha J Fahy, Nicholas G Martin, Cornelia M van DuijnTimothy D Spector, Jugnoo S Rahi, Eugenio Santos, Caroline C W Klaver, Christopher J Hammond

Research output: Contribution to journal › Article › peer-review

194 Citations (Scopus)

Abstract

Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye's ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide association study for refractive error in 4,270 individuals from the TwinsUK cohort. We identified SNPs on 15q25 associated with refractive error (rs8027411, P = 7.91 x 10(-8)). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 x 10(-9)). This locus overlaps the transcription initiation site of RASGRF1, which is highly expressed in neurons and retina and has previously been implicated in retinal function and memory consolidation. Rasgrf1(-/-) mice show a heavier average crystalline lens (P = 0.001). The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment.

Original language	English
Pages (from-to)	902-905
Number of pages	4
Journal	Nature Genetics
Volume	42
Issue number	10
DOIs	https://doi.org/10.1038/ng.664
Publication status	Published - Oct 2010

Keywords

Animals
ras-GRF1
Polymorphism, Single Nucleotide
Chromosomes, Human, Pair 15
Genome, Human
Humans
Mice
Myopia
Mice, Knockout
Genome-Wide Association Study
Genotype
Adult
Cohort Studies
Case-Control Studies
Twin Studies as Topic
Middle Aged
Genetic Predisposition to Disease
Female
Male

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/ng.664

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Hysi, P. G., Young, T. L., Mackey, D. A., Andrew, T., Fernández-Medarde, A., Solouki, A. M., Hewitt, A. W., Macgregor, S., Vingerling, J. R., Li, Y.-J., Ikram, M. K., Fai, L. Y., Sham, P. C., Manyes, L., Porteros, A., Cabrita Lopes, M., Carbonaro, F., Fahy, S. J., Martin, N. G., ... Hammond, C. J. (2010). A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nature Genetics, 42(10), 902-905. https://doi.org/10.1038/ng.664

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title = "A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25",

abstract = "Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye's ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide association study for refractive error in 4,270 individuals from the TwinsUK cohort. We identified SNPs on 15q25 associated with refractive error (rs8027411, P = 7.91 x 10(-8)). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 x 10(-9)). This locus overlaps the transcription initiation site of RASGRF1, which is highly expressed in neurons and retina and has previously been implicated in retinal function and memory consolidation. Rasgrf1(-/-) mice show a heavier average crystalline lens (P = 0.001). The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment.",

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author = "Hysi, {Pirro G} and Young, {Terri L} and Mackey, {David A} and Toby Andrew and Alberto Fern{\'a}ndez-Medarde and Solouki, {Abbas M} and Hewitt, {Alex W} and Stuart Macgregor and Vingerling, {Johannes R} and Yi-Ju Li and Ikram, {M Kamran} and Fai, {Lee Yiu} and Sham, {Pak C} and Lara Manyes and Angel Porteros and {Cabrita Lopes}, Margarida and Francis Carbonaro and Fahy, {Samantha J} and Martin, {Nicholas G} and {van Duijn}, {Cornelia M} and Spector, {Timothy D} and Rahi, {Jugnoo S} and Eugenio Santos and Klaver, {Caroline C W} and Hammond, {Christopher J}",

year = "2010",

month = oct,

doi = "10.1038/ng.664",

language = "English",

volume = "42",

pages = "902--905",

journal = "Nature Genetics",

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Hysi, PG, Young, TL, Mackey, DA, Andrew, T, Fernández-Medarde, A, Solouki, AM, Hewitt, AW, Macgregor, S, Vingerling, JR, Li, Y-J, Ikram, MK, Fai, LY, Sham, PC, Manyes, L, Porteros, A, Cabrita Lopes, M , Carbonaro, F , Fahy, SJ, Martin, NG, van Duijn, CM, Spector, TD, Rahi, JS, Santos, E, Klaver, CCW & Hammond, CJ 2010, 'A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25', Nature Genetics, vol. 42, no. 10, pp. 902-905. https://doi.org/10.1038/ng.664

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T1 - A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

AU - Hysi, Pirro G

AU - Young, Terri L

AU - Mackey, David A

AU - Andrew, Toby

AU - Fernández-Medarde, Alberto

AU - Solouki, Abbas M

AU - Hewitt, Alex W

AU - Macgregor, Stuart

AU - Vingerling, Johannes R

AU - Li, Yi-Ju

AU - Ikram, M Kamran

AU - Fai, Lee Yiu

AU - Sham, Pak C

AU - Manyes, Lara

AU - Porteros, Angel

AU - Cabrita Lopes, Margarida

AU - Carbonaro, Francis

AU - Fahy, Samantha J

AU - Martin, Nicholas G

AU - van Duijn, Cornelia M

AU - Spector, Timothy D

AU - Rahi, Jugnoo S

AU - Santos, Eugenio

AU - Klaver, Caroline C W

AU - Hammond, Christopher J

PY - 2010/10

Y1 - 2010/10

N2 - Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye's ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide association study for refractive error in 4,270 individuals from the TwinsUK cohort. We identified SNPs on 15q25 associated with refractive error (rs8027411, P = 7.91 x 10(-8)). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 x 10(-9)). This locus overlaps the transcription initiation site of RASGRF1, which is highly expressed in neurons and retina and has previously been implicated in retinal function and memory consolidation. Rasgrf1(-/-) mice show a heavier average crystalline lens (P = 0.001). The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment.

AB - Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye's ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide association study for refractive error in 4,270 individuals from the TwinsUK cohort. We identified SNPs on 15q25 associated with refractive error (rs8027411, P = 7.91 x 10(-8)). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 x 10(-9)). This locus overlaps the transcription initiation site of RASGRF1, which is highly expressed in neurons and retina and has previously been implicated in retinal function and memory consolidation. Rasgrf1(-/-) mice show a heavier average crystalline lens (P = 0.001). The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment.

KW - Animals

KW - ras-GRF1

KW - Polymorphism, Single Nucleotide

KW - Chromosomes, Human, Pair 15

KW - Genome, Human

KW - Humans

KW - Mice

KW - Myopia

KW - Mice, Knockout

KW - Genome-Wide Association Study

KW - Genotype

KW - Adult

KW - Cohort Studies

KW - Case-Control Studies

KW - Twin Studies as Topic

KW - Middle Aged

KW - Genetic Predisposition to Disease

KW - Female

KW - Male

U2 - 10.1038/ng.664

DO - 10.1038/ng.664

M3 - Article

C2 - 20835236

SN - 1546-1718

VL - 42

SP - 902

EP - 905

JO - Nature Genetics

JF - Nature Genetics

IS - 10

ER -

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

Abstract

Keywords

UN SDGs

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