| PMID |
|
|
| 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. |
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| DATE PUBLISHED |
|
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| 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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|
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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 |
|
