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

Wojciechowski, Robert; Moy, Chris; Ciner, Elise; Ibay, Grace; Reider, Lauren; Bailey-Wilson, Joan E.; Stambolian, Dwight

doi:10.1007/s00439-006-0153-x

Cited by 65 publications

(67 citation statements)

References 49 publications

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“…1,2,3 The specific genetic polymorphisms or environmental risk factors responsible remain largely unknown. Though earlier studies showed near work particularly reading, to be a significant environmental factor that may lead to myopia.…”

Section: Introductionmentioning

confidence: 99%

Refractive Error Profile in a Tertiary Centre in Western Nepal

Taludhar

Dhakal

2013

Int J Infection & Microbiol

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INTRODUCTION: Refractive error is one of the causes of avoidable blindness. Myopia, hypermetropia and astigmatism are the common types of refractive error. Not many studies are done to detect pattern of refractive error in Western Nepal. So, the study will determine the prevalence and distribution of refractive errors.MATERIALS AND METHODS: A prospective study of all consecutive patients of age less than 40 years who visited eye department, Gandaki Medical College, between May 2010 and May 2011 was conducted. Visual acuity, naked eye and pin hole examination was done by ophthalmic assistant with cycloplegic refraction when needed. Those who did not turn up for refraction were excluded from the study.RESULTS: A total of 601 patients were seen within the study period. Mean age of male patients was 22.4 years ±0.6 (95% CI, 21.2-23.6 years) and mean age of female patients was 24.2 years ±0.5 (95% CI, 23.2-25.2 years). Majority of the patients were in age group 11-20 years (39.3%). Myopia was the most common refractive error (43.3%) followed by simple myopic astigmatism (23.8%). Refractive errors were more common in females.CONCLUSIONS: Myopia was the commonest refractive compared to hypermetropia. Refractive error was more common in females than in males. Such studies help to know the picture of refractive errors in community and such reports are helpful in planning programme to prevent avoidable blindness

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Section: Introductionmentioning

confidence: 99%

Refractive Error Profile in a Tertiary Centre in Western Nepal

Taludhar

Dhakal

2013

Int J Infection & Microbiol

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“…Despite the considerable number of recognized loci, no disease genes, either for Xchromosomal recessive ('MYP1' OMIM 310460, MYP13 OMIM 300613) (15)(16)(17) or autosomal dominant disease phenotypes (MYP2 OMIM 160700, MYP3 OMIM 603221, MYP4 OMIM 608367, MYP5 OMIM 608474, MYP11 OMIM 609994, MYP12 OMIM 609994, and myopia locating to chromosome 10q21.1) (18)(19)(20)(21)(22)(23)(24) have been identified. This also holds true for the genes involved in common myopia where six independent loci have been determined in the recent past (MYP6 OMIM 608908, MYP7 OMIM 609256, MYP8 OMIM 609257, MYP9 OMIM 609258, MYP10 OMIM 609259, and MYP14 OMIM 610320) (25)(26)(27).…”

Section: Introductionmentioning

confidence: 88%

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping

Nürnberg

Jacobi²,

Broghammer³

et al. 2008

Int J Mol Med

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Abstract. Myopia, or short-sightedness, is the most common form of vision disorder worldwide. Higher levels of myopia, usually defined as an axial eye length of >26 mm or a refractive error of < -5.00 diopters are often designated as 'pathologic' myopia, because of the predisposition to develop further eye disorders such as retinal detachment, macular degeneration, cataract, or glaucoma. Many distinct forms of autosomal dominant non-syndromic high-grade myopia are described in humans. While the underlying chromosomal locations and critical disease intervals have been identified and located to physical map positions, the gene defects and causative mutations responsible for autosomal dominant myopia remain elusive to date. Examination of a German sixgeneration kindred by 10K whole genome chips led to the identification of a 19-cM map segment as being the most likely familial myopia candidate region spanning from chromosomal band 12q14.3 to 12q21.31 (MYP3). In our family, a maximum multi-point LOD score of 3.9 was obtained between rs1373877 and rs717996. The recombination breakpoints in this family and the interval of the originally reported German/Italian family defining the MYP3 locus on chromosome 12 (OMIM 603221, two-point LOD score 3.85 for markers D12S1706 and D12S327 at 12q21-23) allowed us to significantly refine a minimum consensus region. This new composite region is located between microsatellite marker D12S1684 at 75.8 K and SNP_A-1509586 (alias rs717996) at position 82,636,288 bp, and narrows the original 30.1 cM of the MYP3 interval to 6.8 cM. The refined MYP3 interval allowed us to restrict the list of database-indexed genes to 25, several of which are promising MYP3 candidates based on similarities with genes and proteins involved in vision physiology and eye disease. While autosomal dominant high-grade myopia is recognized to be genetically heterogeneous, our results suggest genetic homogeneity of the MYP3-based condition in families that share the same ethnic and geographical background. The future identification of this MYP3 gene may provide insights into the pathophysiology of myopia and eye development.

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“…To our knowledge, there have only been two linkage studies that have considered ocular refraction as a quantitative trait. 39,40 The first, published by Hammond et al, 39 identified myopia susceptibility loci on 11p13 (MYP7), 3q26 (MYP8), 4q12 (MYP9), and 8p23 (MYP10) using spherical equivalent as the phenotype. Theirs is the only linkage study into myopia that has used a twin-based cohort.…”

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confidence: 99%

“…17 The second study assessing ocular refraction as a quantitative trait identified a single susceptibility locus on 1p36 in Ashkenazi Jewish families. 40 To date, there have been no linkage studies assessing ocular biometric measurements such as ocular axial length, corneal curvature, and anterior chamber depth as underlying quantitative traits for ocular refraction.We have reported heritability of ocular refraction and ocular biometric measurements in a twin-based population. 9 The twins used for this heritability study were recruited as part of the Genes in Myopia (GEM) Twin Study.…”

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confidence: 99%