Abstract：
PURPOSE:Several nonsyndromic high-grade myopia loci have been mapped primarily by microsatellite markers and a limited number of pedigrees. In this study, whole-genome linkage scans were performed for high-grade myopia, using single nucleotide polymorphisms (SNPs) in 254 families from five independent sites. METHODS:Genomic DNA samples from 1411 subjects were genotyped (Linkage Panel IVb; Illumina, San Diego, CA). Linkage analyses were performed on 1201 samples from 10 Asian, 12 African-American, and 221 Caucasian families, screening for 5744 SNPs after quality-control exclusions. Two disease states defined by sphere (SPH) and spherical equivalence (SE; sphere+cylinder/2) were analyzed. Parametric and nonparametric two-point and multipoint linkage analyses were performed using the FASTLINK, HOMOG, and MERLIN programs. Multiple stratified datasets were examined, including overall, center-specific, and race-specific. Linkage regions were declared suggestive if they had a peak LOD score >or= 1.5. RESULTS:The MYP1, MYP3, MYP6, MYP11, MYP12, and MYP14 loci were replicated. The novel region q34.11 on chromosome 9 (max NPL= 2.07 at rs913275) was identified. Chromosome 12, region q21.2-24.12 (36.59 cM, MYP3 locus) showed significant linkage (peak HLOD = 3.48) at rs337663 in the overall dataset by SPH and was detected by the Duke, Asian, and Caucasian subsets as well. Potential shared interval was race dependent-a 9.4-cM region (rs163016-rs1520724) driven by the Asian subset and a 13.43-cM region (rs163016-rs1520724) driven by the Caucasian subset. CONCLUSIONS:The present study is the largest linkage scan to date for familial high-grade myopia. The outcomes will facilitate the identification of genes implicated in myopic refractive error development and ocular growth.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Li YJ,Guggenheim JA,Bulusu A,Metlapally R,Abbott D,Malecaze F,Calvas P,Rosenberg T,Paget S,Creer RC,Kirov G,Owen MJ,Zhao B,White T,Mackey DA,Young TLdoi
10.1167/iovs.08-2781subject
Has Abstractpub_date
2009-07-01 00:00:00pages
3116-27issue
7eissn
0146-0404issn
1552-5783pii
iovs.08-2781journal_volume
50pub_type
杂志文章,多中心研究abstract：PURPOSE:Primary intraocular lymphoma (PIOL) is a diffuse large B cell lymphoma that initially infiltrates the retina, vitreous, or optic nerve head, with or without central nervous system involvement. This study examined the expression of the bcl-2 t(14;18) translocation, the bcl-10 gene, and high expression of bcl-6 m...
journal_title：Investigative ophthalmology & visual science
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abstract：PURPOSE:To identify the disease locus associated with autosomal dominant Fuchs corneal dystrophy (FCD) in a large family and to compare the progression of severity in families mapped to the FCD1 and FCD2 loci. METHODS:Seventeen individuals in a large family were examined by slit lamp biomicroscopy. Blood samples were ...
journal_title：Investigative ophthalmology & visual science
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doi：10.1167/iovs.09-3764
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abstract：PURPOSE:The purpose of the study was to assess vision-related quality of life (QoL) in patients with visual field loss (VFL) after lesions of the postchiasmatic visual pathway and to investigate the influence of VFL and reduced visual acuity (VA) on vision-related QoL. METHODS:In 312 patients with postchiasmatic damag...
journal_title：Investigative ophthalmology & visual science
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abstract：PURPOSE:Corneas with scars and certain chronic pathologic conditions contain highly sulfated dermatan sulfate, but little is known of the core proteins that carry these atypical glycosaminoglycans. In this study the proteoglycan proteins attached to dermatan sulfate in normal and pathologic human corneas were examined ...
journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1998-09-01 00:00:00
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abstract：:Collagen deposition is largely responsible for scar information, an undesirable outcome of glaucoma filtering surgery. Because interferon-gamma (IFN-gamma) has been reported to inhibit collagen synthesis in a variety of cells, the authors examined its effect on collagen synthesis by Tenon's capsule fibroblasts culture...
journal_title：Investigative ophthalmology & visual science
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abstract：PURPOSE:The authors recently reported that a severe inflammatory response resulting in substantial loss of acinar cells was induced by a single injection of interleukin-1alpha into the lacrimal gland and that this effect was reversible. The purpose of the present study was to determine the mechanisms involved in lacrim...
journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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更新日期：1996-06-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1998-03-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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abstract：:On the assumption that myelin intrusion into the papilla and peripapillary region might occur with traumatic lesions of the optic nerve, a study was made of the clinical and histopathologic changes that might be expected. Nine monkey eyes were subjected to hemostat compression of the nerve close to the globe and studi...
journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1977-05-01 00:00:00
abstract：PURPOSE:To characterize the features and possible mechanism of plus disease in the mouse oxygen-induced retinopathy (OIR) model for retinopathy of prematurity. METHODS:Wild-type and Adam (A Disintegrin And Metalloproteinase) knockout mice were exposed to 75% oxygen from postnatal day 7 to 12 (P7 to P12) (hyperoxia), t...
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journal_title：Investigative ophthalmology & visual science
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更新日期：2009-12-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：10.1167/iovs.07-0894
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journal_title：Investigative ophthalmology & visual science
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更新日期：2017-07-01 00:00:00
