A Genome-wide Scan Maps a Novel High Myopia Locus to 5p15

Lam, Ching Yan; Tam, Peter; Fan, Dorothy S. P.; Fan, Bao Jian; Wang, Dan Yi; Lee, Coral W. S.; Pang, Chi Pui; Lam, Dennis Shun Chiu

doi:10.1167/iovs.07-1126

Cited by 58 publications

(23 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…27 This locus was further supported by an additional genome-wide linkage scan of Asian families. 37 Recently, a GWAS study on Singapore Chinese revealed that genetic variations in the noncoding region of CTNND2, the SNPs rs6885224 and rs12716080, were associated with high myopia.…”

Section: Discussionmentioning

confidence: 76%

See 1 more Smart Citation

Replication Study SupportsCTNND2as a Susceptibility Gene for High Myopia

Jiang

Wang

et al. 2011

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 76%

“…27 Recently, a GWAS study identified a strong association between high myopia and genetic variations in CTNND2, 33 which is located inside the linkage interval of MYP16. It would be of interest to know whether this association can be replicated by independent studies.…”

mentioning

confidence: 99%

Replication Study SupportsCTNND2as a Susceptibility Gene for High Myopia

Jiang

Wang

et al. 2011

Invest. Ophthalmol. Vis. Sci.

View full text Add to dashboard Cite

show abstract

“…A genome-wide scan of 94 high myopia cases drawn from a Chinese population and the same number of control subjects using microsatellite markers refined by genotyping SNP markers revealed a location on chromosome 5p that had not been previously reported (61). A maximum LOD score of 4.8.1 was associated with the 5p15.3.3-p15.2.…”

Section: Other Myp Locimentioning

confidence: 77%

A decade in search of myopia genes

Jacobi

Pusch²

2010

Front Biosci

View full text Add to dashboard Cite

Nearly half of visual impairment in the world is caused by uncorrected refractive errors, and myopia constitutes a significant proportion of this problem. Moreover, the prevalence of myopia is increasing, especially in Asian countries. Linkage studies have identified at least 18 possible loci (MYP) in 15 different chromosomes associated with myopia, although some of these remain to be confirmed. However, when studies have been carried out to identify specific candidate genes, it is apparent that these genes are often not part of MYP loci. In studying the expression of specific genes that might be responsible for myopia, we are learning that the involvement of various small leucine-rich repeat proteoglycans and growth factors is not a simple one. The emerging picture is one of complex interaction, in which mutations in several genes likely act in concert. The majority of myopia cases are not likely caused by defects in structural proteins, but in defects involving the control of structural proteins. The future of genetic research in this area will likely rely increasingly on microchip array technology.

show abstract

“…22 This gene encodes an adhesive junction-associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. 10 Two SNPs (rs12716080 and rs6885224) of CTNND2 in the metaanalysis of Singaporean Chinese data sets were identified strong association with high myopia.…”

Section: Discussionmentioning

confidence: 99%

Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study

Wang

Yang

et al. 2016

Eye

View full text Add to dashboard Cite

Aims High myopia is a common visual disorder in the world. The ZNF644, GRM6, and CTNND2 genes are expressed in the retina. This study aims to investigate the associations of these genes with high myopia in Han Chinese population. Methods The case-control association included high myopia cases (n = 430) and controls (n = 430) recruited from a populationbased study, 'Jiangsu Eye Study'. Fourteen single-nucleotide polymorphisms (SNPs) in three genes were genotyped by the TaqMan method using the real-time PCR system. Results Three SNPs GRM6-rs11746675, GRM6-rs2067011, and GRM6-rs2645339 were associated with high myopia (odds ratio (OR) = 0.74, P = 0.003; OR = 0.78, P = 0.018; and OR = 0.78, P = 0.023; respectively). The significances of rs2067011 and rs2645339 disappeared after multiple testing corrections. Rs11746675 remained significant after correction for multiple testing. The genetic model analysis found that GRM6-rs11746675 and GRM6-rs2067011 were suggestively associated with high myopia in the recessive model (OR = 0.54, P = 0.004; OR = 0.52, P = 0.003; respectively). Haplotype GAT for GRM6 markers rs2067011-rs2645339-rs762724 showed significance (P = 0.0239), but such association did not remain significant after multiple testing corrections. Conclusions Our data suggested that genetic variants in GRM6 are associated with high myopia. The mechanism of GRM6 in the development of high myopia need to be further investigated.

show abstract

A Genome-wide Scan Maps a Novel High Myopia Locus to 5p15

Abstract: A novel autosomal dominant high myopia locus was mapped on chromosome 5p15.33-p15.2 with an interval of 17.45 cM.

Cited by 58 publications

References 36 publications

Replication Study SupportsCTNND2as a Susceptibility Gene for High Myopia

Replication Study SupportsCTNND2as a Susceptibility Gene for High Myopia

A decade in search of myopia genes

Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study

Contact Info

Product

Resources

About