Abstract：
PURPOSE:To test the association between TCF4, a gene recently found to confer susceptibility to Fuchs' corneal dystrophy (FCD) in Caucasian populations, and Chinese patients with FCD. METHODS:Fifty-seven Chinese subjects with clinically diagnosed FCD and 121 normal control subjects were recruited. Genomic DNA was extracted and the 18 single nucleotide polymorphisms (SNPs) within TCF4 were genotyped (Sequenom MassArray primer extension system; Sequenom, Inc., San Diego, CA). Statistical association between individual SNPs and FCD was evaluated using 1 df additive genetic models, and verified with 2 df unguided genotype tests of association. P < 0.002 was considered statistically significant after accounting for the 18 SNPs. RESULTS:The affected individuals ranged in age from 48 to 87 years, with an average age of 67 years. There was no statistical difference in the demographic information between the FCD and the control group (mean age of 65.1 years; range, 39-85, P = 0.12). Two SNPs within TCF4 (rs17089887 and rs17089925) were significant experiment-wide (P = 7.34 × 10(-5) and P = 0.00045 respectively) with an increase in disease risk of >2.3-fold per copy of the risk allele compared with individuals who were wild type. However, the most significantly associated SNP from the original report (rs613872) was not found to be present in Chinese FCD subjects. CONCLUSIONS:Polymorphisms within TCF4, a gene which has been implicated in FCD susceptibility among Europeans, was also found to be strongly associated with FCD in Chinese.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Thalamuthu A,Khor CC,Venkataraman D,Koh LW,Tan DT,Aung T,Mehta JS,Vithana ENdoi
10.1167/iovs.11-7568subject
Has Abstractpub_date
2011-07-29 00:00:00pages
5573-8issue
8eissn
0146-0404issn
1552-5783pii
iovs.11-7568journal_volume
52pub_type
杂志文章abstract：PURPOSE:To evaluate the potential role that FoxO transcription factors play in modulating resveratrol's protective effects against oxidative stress in lens epithelial cells. METHODS:Primary human or porcine lens epithelial cells (LECs) were treated with resveratrol (RES) 25 μM and incubated under either physiologic (5...
journal_title：Investigative ophthalmology & visual science
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abstract：PURPOSE:To identify the defective gene in the sex-linked, recessively inherited retinal dysplasia and degeneration (rdd) chicken and to search for the human equivalent disease. METHODS:Microsatellites from chicken chromosome Z were genotyped in 77 progeny of a carrier male (rdd/+) and an affected female (rdd/W), and c...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.11-7872
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abstract：PURPOSE:Visual field defects after vitrectomy can be seen after any surgery involving fluid-air exchange. To elucidate the effect during surgery of the infused air on the retina, the present study investigated the changes in the morphology of the rabbit retina induced by air infusion and the changes resulting from vary...
journal_title：Investigative ophthalmology & visual science
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abstract：PURPOSE:The authors' previous study showed that the expression of a Rho-associated serine/threonine kinase (ROCK) is regulated during cell cycle progression in corneal epithelial cells. The present study was conducted to determine whether and how Rho/ROCK signaling regulates cell cycle progression. METHODS:Rabbit corn...
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abstract：Purpose:To evaluate the contribution of fixational saccades toward fixation instability in strabismic monkeys. Methods:Binocular eye movements were measured as six experimental monkeys (five strabismic monkeys and one monkey with downbeat nystagmus) and one normal monkey fixated targets of two shapes (Optotype, Disk) ...
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journal_title：Investigative ophthalmology & visual science
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doi：
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abstract：PURPOSE:How vitamin A contributes to the maintenance of the wet-surfaced phenotype at the ocular surface is not well understood. This study sought to identify vitamin A-responsive genes in ocular surface epithelia using gene microarray analysis of cultures of a human conjunctival epithelial (HCjE) cell line grown with ...
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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abstract：PURPOSE:To evaluate by vector analysis the corneal astigmatic changes occurring in keratoconic corneas during a 3-year follow-up and to determine the relationship between these changes and other clinical changes. METHODS:Keratoconic eyes (n = 114) of 75 patients ranging in age from 14 to 70 years were retrospectively ...
journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1995-07-01 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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doi：
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1990-10-01 00:00:00
abstract：PURPOSE:RPE65 has been shown to be essential for the production of 11-cis retinal by the retinal pigment epithelium. Mutations in RPE65 are known to be associated with severe forms of early-onset retinal dystrophy. This project was designed to determine the amount of regenerable opsin in Rpe65-/- mice during developmen...
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