Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
20835236
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 × 10⁻⁸). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 × 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.
DATE PUBLISHED
2010 Oct
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2010/02/02
accepted 2010/08/19
aheadofprint 2010/09/12
entrez 2010/09/14 06:00
pubmed 2010/09/14 06:00
medline 2010/10/29 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Hysi PG Hysi Pirro G PG Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas' Hospital, London, UK.
Young TL Young Terri L TL
Mackey DA Mackey David A DA
Andrew T Andrew Toby T
Fernández-Medarde A Fernández-Medarde Alberto A
Solouki AM Solouki Abbas M AM
Hewitt AW Hewitt Alex W AW
Macgregor S Macgregor Stuart S
Vingerling JR Vingerling Johannes R JR
Li YJ Li Yi-Ju YJ
Ikram MK Ikram M Kamran MK
Fai LY Fai Lee Yiu LY
Sham PC Sham Pak C PC
Manyes L Manyes Lara L
Porteros A Porteros Angel A
Lopes MC Lopes Margarida C MC
Carbonaro F Carbonaro Francis F
Fahy SJ Fahy Samantha J SJ
Martin NG Martin Nicholas G NG
van Duijn CM van Duijn Cornelia M CM
Spector TD Spector Timothy D TD
Rahi JS Rahi Jugnoo S JS
Santos E Santos Eugenio E
Klaver CC Klaver Caroline C W CC
Hammond CJ Hammond Christopher J CJ
INVESTIGATORS
JOURNAL
VOLUME: 42
ISSUE: 10
TITLE: Nature genetics
ISOABBREVIATION: Nat. Genet.
YEAR: 2010
MONTH: Oct
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1546-1718
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Nat Genet
COUNTRY: United States
ISSNLINKING: 1061-4036
NLMUNIQUEID: 9216904
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Comparative Study
Journal Article
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
G0000934 Medical Research Council United Kingdom
G0301069 Medical Research Council United Kingdom
G0901017 Medical Research Council United Kingdom
R01 EY014685 NEI NIH HHS United States
R01 EY018246 NEI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Animals
Case-Control Studies
Chromosomes, Human, Pair 15 genetics
Cohort Studies genetics
Female genetics
Genetic Predisposition to Disease genetics
Genome, Human genetics
Genome-Wide Association Study genetics
Genotype genetics
Humans genetics
Male genetics
Mice genetics
Mice, Knockout genetics
Middle Aged genetics
Myopia genetics
Polymorphism, Single Nucleotide genetics
Twin Studies as Topic genetics
ras-GRF1 physiology
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 RASGRF1 protein, human
0 Rasgrf1 protein, mouse
0 ras-GRF1
OTHER ID's
OTHERID SOURCE
NIHMS582492 NLM
PMC4115148 NLM