Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese.
Ophthalmology
; 118(2): 368-75, 2011 Feb.
Article
em En
| MEDLINE
| ID: mdl-21095009
ABSTRACT
OBJECTIVE:
To determine susceptibility genes for high myopia in Singaporean Chinese.DESIGN:
A meta-analysis of 2 genome-wide association (GWA) datasets in Chinese and a follow-up replication cohort in Japanese. PARTICIPANTS AND CONTROLS Two independent datasets of Singaporean Chinese individuals aged 10 to 12 years (Singapore Cohort Study of the Risk factors for Myopia [SCORM] cases = 65, controls = 238) and more than 21 years (Singapore Prospective Study Program [SP2] cases = 222, controls = 435) for GWA studies, and a Japanese dataset aged more than 20 years (cases = 959, controls = 2128) for replication.METHODS:
Genomic DNA samples from SCORM and SP2 were genotyped using various Illumina Beadarray platforms (>HumanHap 500). Single-locus association tests were conducted for each dataset with meta-analysis using pooled z-scores. The top-ranked genetic markers were examined for replication in the Japanese dataset. Fisher P was calculated for the combined analysis of all 3 cohorts. MAIN OUTCOMEMEASURES:
High myopia, defined by spherical equivalent (SE) ≤ -6.00 diopters (D); controls defined by SE between -0.50 and +1.00 D.RESULTS:
Two SNPs (rs12716080 and rs6885224) in the gene CTNND2 on chromosome 5p15 ranked top in the meta-analysis of our Chinese datasets (meta P = 1.14 × 10(-5) and meta P = 1.51 × 10(-5), respectively) with strong supporting evidence in each individual dataset analysis (max P = 1.85 × 10(-4) in SCORM max P = 8.8 × 10(-3) in SP2). Evidence of replication was observed in the Japanese dataset for rs6885224 (P = 0.035, meta P of 3 datasets 7.84 × 10(-6)).CONCLUSIONS:
This study identified a strong association of CTNND2 for high myopia in Asian datasets. The CTNND2 gene maps to a known high myopia linkage region on chromosome 5p15.
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Base de dados:
MEDLINE
Assunto principal:
Polimorfismo de Nucleotídeo Único
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Povo Asiático
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Miopia Degenerativa
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Cateninas
Tipo de estudo:
Etiology_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
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Systematic_reviews
Limite:
Child
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Female
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Humans
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Male
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Middle aged
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article