Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia

Ibay, Grace; Doan, Betty; Reider, Lauren; Dana, Debra; Schlifka, Melissa; Hu, Heping; Holmes, Taura N.; O'Neill, J. J.; Owens, Robert E.; Ciner, Elise; Bailey‐Wilson, Joan E.; Stambolian, Dwight

doi:10.1186/1471-2350-5-20

Cited by 37 publications

(33 citation statements)

References 34 publications

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“…Mutti et al 98 genotyped 53 common myopia families (at least 1 child with more myopia than -0.75 D in each meridian) using the highest intrainterval LOD score microsatellite markers for the 18p and 12q loci and did not establish linkage. Ibay et al 99 found no strong evidence of linkage to chromosome arms 18p, 12q, 17q, and 7q in a cohort of 38 Ashkenazi Jewish families with mild or moderate myopia (Ն−1.00 D). These studies suggest that different genes account for mild or moderate myopia susceptibility or development or that the effect of these genes is too small to be detected with the relatively small sample sizes.…”

Section: Molecular Genetic Studies Of Human Myopiamentioning

confidence: 96%

Complex Trait Genetics of Refractive Error

Young¹

2007

Arch Ophthalmol

182

127

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Section: Molecular Genetic Studies Of Human Myopiamentioning

confidence: 96%

Complex Trait Genetics of Refractive Error

Young¹

2007

Arch Ophthalmol

182

127

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“…Subsequent studies have identified areas of linkage to high myopia on chromosomal regions 12q22-23 (Young et al 1998a), 7q36 (Naiglin et al 1999) and 17q21-22 (Paluru et al 2003). In a study of Ashkenazi Jewish and Amish families reported by Ibay et al (2004), these loci were not found to play a major role in susceptibility to common myopia. In a study of 51 families in the United Kingdom, Farbrother et al (2004) confirmed linkage of the MYP3 locus on chromosome 12q to high myopia.…”

Section: Introductionmentioning

confidence: 98%

Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36

et al. 2006

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The development of refractive error is mediated by both environmental and genetic factors. We performed regression-based quantitative trait locus (QTL) linkage analysis on Ashkenazi Jewish families to identify regions in the genome responsible for ocular refraction. We measured refractive error on individuals in 49 multi-generational American families of Ashkenazi Jewish descent. The average family size was 11.1 individuals and was composed of 2.7 generations. Recruitment criteria specified that each family contain at least two myopic members. The mean spherical equivalent refractive error in the sample was −3.46D (SD=3.29) and 87% of individuals were myopic. Microsatellite genotyping with 387 markers was performed on 411 individuals. We performed multipoint regression-based linkage analysis for ocular refraction and a log transformation of the trait using the statistical package Merlin-Regress. Empirical genomewide significance levels were estimated through gene-dropping simulations by generating random genotypes at each of the 387 markers in 200 replicates of our pedigrees. Maximum LOD scores of 9.5 for ocular refraction and 8.7 for log-transformed refraction (LTR) were observed at 49.1 cM on chromosome 1p36 between markers D1S552 and D1S1622. The empirical genomewide significance levels were P=0.065 for ocular refraction and P<0.005 for LTR, providing strong evidence for linkage of refraction to this locus. The inter-marker region containing the peak spans 11 Mb and contains approximately 189 genes. Conclusion: We found genomewide significant NIH Public Access

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“…However, studies that have attempted to achieve this have so far failed to replicate high-myopia loci (MYP2 and MYP3) when using the phenotype of common myopia (–1.00 or –0.75 dpt in each meridian) [74,75]. …”

Section: Pathological Myopiamentioning

confidence: 99%

“…There is now evidence to show that the high-myopia loci are heterogeneous [66,72,73], and it has been speculated that some high-myopia loci may contribute to all degrees of myopia [74,75]. However, studies that have attempted to achieve this have so far failed to replicate high-myopia loci (MYP2 and MYP3) when using the phenotype of common myopia (–1.00 or –0.75 dpt in each meridian) [74,75].…”

Section: Pathological Myopiamentioning

confidence: 99%

Myopic Maculopathy: A Review

Silva

2012

Ophthalmologica

108

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Pathological myopia is a major cause of irreversible vision loss and is the fourth to ninth most frequent cause of blindness in the world. Choroidal neovascularization (CNV) secondary to pathological myopia is the leading cause of vision impairment in patients younger than 50 years. New scientific contributions have been made to the understanding of high myopia and associated CNV. New treatments have been used in recent years, and the results are still controversial. This paper is an updated review of pathological myopia – its definition and progression, epidemiology and genetics – and a review of myopic CNV including the natural history, epidemiology, risk factors, pathogenic mechanisms and treatment.

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Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia

Cited by 37 publications

References 34 publications

Complex Trait Genetics of Refractive Error

Complex Trait Genetics of Refractive Error

Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36

Myopic Maculopathy: A Review

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