New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17

Paluru, Prasuna; Ronan, Shawn M.; Hèon, Elise; Devoto, Marcella; Wildenberg, Scott C.; Scavello, Genaro S.; Holleschau, Ann M.; Mäkitie, Outi; Cole, William G.; King, Richard A.; Young, Terri L.

doi:10.1167/iovs.02-0697

Cited by 128 publications

(75 citation statements)

References 30 publications

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“…2,3 High myopia (4À6.0 D) can result in severe ocular morbidity, and extreme myopia (410.0 D) exhibits complications that potentially manifest in blindness, such as retinal detachment, macular degeneration, and glaucoma. 4 Early identification of patients predisposed to high or extreme myopia, particularly children, is important so that preventive measures can be taken.…”

Section: Introductionmentioning

confidence: 99%

A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia

Tsai

Chiang

Lin

et al. 2007

Eye

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Purpose The PAX6 gene is a homeobox gene involved in oculogenesis, ocular growth, and form-deprivation myopia. Our aim was to determine whether PAX6 polymorphism at position À12 of intron 9 (IVS9-12C to T, rs667773) is associated with high myopia in Chinese Taiwanese. Methods This case-control study compared a study group (n ¼ 188) with high myopia whose spherical equivalent was greater than À6.0 D with a control group (n ¼ 85) whose spherical equivalent was less than À0.5 D. Genotyping of IVS9-12C to T was conducted by restriction fragment length polymorphism analysis, and results were compared for the two groups. Results No significant difference in genotype and allelic frequency at this position between the study and control groups was detected. However, there was a significantly higher frequency of the CC genotype in extremely myopic (greater than À10 D) patients (Po0.001, odds ratio (OR ¼ 5.265), confidence interval (CI ¼ 2.0342-13.626)). Furthermore, there was a higher frequency of the C allele in the extreme myopia group than in the control group (P ¼ 0.002, OR ¼ 3.73, CI ¼ 1.57-8.81). Conclusions The elevated frequency of the CC genotype within the extreme myopia group indicated that the CC genotype could act as a genetic marker, identifying patients predisposed to develop extreme myopia. Varied expression of this genotype may contribute to the genetic predisposition to high myopia in Chinese Taiwanese.

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Section: Introductionmentioning

confidence: 99%

A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia

Tsai

Chiang

Lin

et al. 2007

Eye

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“…Accordingly, COL1A1 can be a candidate gene for myopia. Although Paluru et al (2003) did not find causal mutations in the coding region of COL1A1, this does not completely exclude a possibility of a polymorphism in the non-coding region conferring a risk for myopia. We conducted a case-control study to test for the COL1A1 gene as a susceptibility locus to high myopia.…”

Section: Introductionmentioning

confidence: 67%

“…Genetic variants at the type I collagen a-1 gene (COL1A1) may influence gene expression, which causes different susceptibilities to myopia. Paluru et al (2003) reported a linkage of high myopia to 17q21-22, where COL1A1 is located. Accordingly, COL1A1 can be a candidate gene for myopia.…”

Section: Introductionmentioning

confidence: 99%

Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia

et al. 2007

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Reduced scleral collagen accumulation has been found in the development of myopia. Single nucleotide polymorphisms (SNPs) at the type I collagen a-1 gene (COL1A1) may cause different susceptibilities to myopia. We conducted a case-control study to systematically examine COL1A1 as a candidate gene for high myopia. A case was defined as spherical refraction £-6 D and control ‡-1.5 D. The study comprised 471 cases and 623 controls, and ten tagging SNPs were genotyped. None of the SNPs reached the significant level of 0.05. Subset analysis on cases with a strong family history did not demonstrate significant results. We could not find an interaction between gene and near work. Exploratory analyses by changing the cutoff values to re-define cases and controls did not improve the results. Haplotype analysis did not yield significant association with myopia. This study failed to demonstrate COL1A1 as a significant risk factor for high myopia.

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“…The prevalence of myopia has been reported as high as 70-90% in certain Asian countries, 30-40% in Europe and the US, and 10-20% in Africa (3,(5)(6)(7)(8)(9)(10). Its extreme form, high myopia, is the fourth most common cause of irreversible blindness in the world (11,12).…”

Section: Introductionmentioning

confidence: 99%

High myopia is not associated with single nucleotide polymorphisms in the COL2A1 gene in the Chinese population

Wang

Gao

et al. 2011

Mol Med Report

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Abstract. Association studies have revealed that the rs1635529 polymorphism in the COL2A1 (collagen, type Ⅱ, α 1) gene may be a potential candidate for myopia development and may be associated with myopia in Caucasians. The aim of this study was to investigate the association of high myopia with 5 polymorphisms including rs1635529 in COL2A1 in a Chinese population. Genomic DNA samples were selected from our Genomic DNA Repository for Myopia. A total of 581 high myopia individuals (refraction ≤-6.00D, spherical equivalent) and 384 normal controls (refraction between -0.50D and +2.00D, spherical equivalent) from a Han Chinese cohort participated in the association study. Allelic discrimination assay was performed on five single nucleotide polymorphisms (SNPs) (rs1635529, rs60542319, rs1635530, rs1635531 and rs954326) in COL2A1 by direct sequence analysis of polymerase chain reaction products. The genotype, allele and haplotype frequencies of the SNPs between cases and controls were compared by Chi-square test for association analysis. Based on the results, SNPs at rs1635530 and rs1635531 were found to be monomorphic in all subjects. There was no statistically significant difference in genotype, allele and haplotype frequencies for the other three SNPs (rs1635529, rs60542319 and rs954326) between the high myopia group and the control group. We do not find evidence to support an association of SNP rs1635529 in COL2A1 with high myopia in the Chinese population studied, nor of the other two SNPs (rs60542319 and rs954326).

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New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17

Abstract: A novel putative disease locus for AD high-grade myopia has been identified and provides additional support for genetic heterogeneity for this disorder.

Cited by 128 publications

References 30 publications

A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia

A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia

Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia

High myopia is not associated with single nucleotide polymorphisms in the COL2A1 gene in the Chinese population

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