Please use this identifier to cite or link to this item:
Title: Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese
Authors: Li, Y.-J.
Goh, L. 
Khor, C.-C.
Fan, Q.
Yu, M.
Han, S.
Sim, X. 
Ong, R.T.-H.
Wong, T.-Y.
Vithana, E.N.
Yap, E.
Nakanishi, H.
Matsuda, F.
Ohno-Matsui, K.
Yoshimura, N.
Seielstad, M.
Tai, E.-S.
Young, T.L. 
Saw, S.-M. 
Issue Date: Feb-2011
Citation: Li, Y.-J., Goh, L., Khor, C.-C., Fan, Q., Yu, M., Han, S., Sim, X., Ong, R.T.-H., Wong, T.-Y., Vithana, E.N., Yap, E., Nakanishi, H., Matsuda, F., Ohno-Matsui, K., Yoshimura, N., Seielstad, M., Tai, E.-S., Young, T.L., Saw, S.-M. (2011-02). Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese. Ophthalmology 118 (2) : 368-375. ScholarBank@NUS Repository.
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 Outcome Measures 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. Financial Disclosure(s) Proprietary or commercial disclosure may be found after the references. © 2011 American Academy of Ophthalmology.
Source Title: Ophthalmology
ISSN: 01616420
DOI: 10.1016/j.ophtha.2010.06.016
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
There are no files associated with this item.


checked on Oct 28, 2020


checked on Oct 20, 2020

Page view(s)

checked on Oct 23, 2020

Google ScholarTM



Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.