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Ubiquitin Carboxyl-Terminal Esterase L1 (UCHL1) S18Y Polymorphism In Patients With Cataracts

Rudolph, Thiemo; Sjolander, Annica; Palmer, Mona Seibt; Minthon, Lennart LU ; Wallin, Anders; Andreasen, Niels; Tasa, Gunnar; Juronen, Erkki; Blennow, Kaj and Zetterberg, Henrik, et al. (2011) In Ophthalmic Genetics 32(2). p.75-79
Abstract
Methods: aEuro,Patients with cataract (n == 493) and controls (n == 142) were analyzed for the UCHL1 p.S18Y polymorphism using dynamic allele-specific hybridization. Results: aEuro,Significant differences were observed in allele and genotype frequencies of the p.S18Y polymorphism between controls and cataract patients, where a positive UCHL1 allele A carrier status was associated with the cataract diagnosis (adjusted OR 1.7 [95% CI == 1.1--2.6] p == 0.02). No significant differences were seen in genotype distribution when stratifying for type of cataract. Nor did the mean age at cataract surgery differ between genotypes. Conclusion: aEuro,The current study does not support a protective role for the UCHL1 S18Y polymorphism in cataract... (More)
Methods: aEuro,Patients with cataract (n == 493) and controls (n == 142) were analyzed for the UCHL1 p.S18Y polymorphism using dynamic allele-specific hybridization. Results: aEuro,Significant differences were observed in allele and genotype frequencies of the p.S18Y polymorphism between controls and cataract patients, where a positive UCHL1 allele A carrier status was associated with the cataract diagnosis (adjusted OR 1.7 [95% CI == 1.1--2.6] p == 0.02). No significant differences were seen in genotype distribution when stratifying for type of cataract. Nor did the mean age at cataract surgery differ between genotypes. Conclusion: aEuro,The current study does not support a protective role for the UCHL1 S18Y polymorphism in cataract development, but may instead suggest a disease-promoting effect. (Less)
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publishing date
type
Contribution to journal
publication status
published
subject
in
Ophthalmic Genetics
volume
32
issue
2
pages
75 - 79
publisher
Taylor & Francis
external identifiers
  • wos:000290488500002
  • scopus:79955844186
ISSN
1744-5094
DOI
10.3109/13816810.2010.544360
language
English
LU publication?
yes
id
86c17938-720b-4e8a-961f-01c2931ed142 (old id 1986697)
date added to LUP
2011-07-01 09:19:26
date last changed
2017-03-19 03:46:00
@article{86c17938-720b-4e8a-961f-01c2931ed142,
  abstract     = {Methods: aEuro,Patients with cataract (n == 493) and controls (n == 142) were analyzed for the UCHL1 p.S18Y polymorphism using dynamic allele-specific hybridization. Results: aEuro,Significant differences were observed in allele and genotype frequencies of the p.S18Y polymorphism between controls and cataract patients, where a positive UCHL1 allele A carrier status was associated with the cataract diagnosis (adjusted OR 1.7 [95% CI == 1.1--2.6] p == 0.02). No significant differences were seen in genotype distribution when stratifying for type of cataract. Nor did the mean age at cataract surgery differ between genotypes. Conclusion: aEuro,The current study does not support a protective role for the UCHL1 S18Y polymorphism in cataract development, but may instead suggest a disease-promoting effect.},
  author       = {Rudolph, Thiemo and Sjolander, Annica and Palmer, Mona Seibt and Minthon, Lennart and Wallin, Anders and Andreasen, Niels and Tasa, Gunnar and Juronen, Erkki and Blennow, Kaj and Zetterberg, Henrik and Zetterberg, Madeleine},
  issn         = {1744-5094},
  language     = {eng},
  number       = {2},
  pages        = {75--79},
  publisher    = {Taylor & Francis},
  series       = {Ophthalmic Genetics},
  title        = {Ubiquitin Carboxyl-Terminal Esterase L1 (UCHL1) S18Y Polymorphism In Patients With Cataracts},
  url          = {http://dx.doi.org/10.3109/13816810.2010.544360},
  volume       = {32},
  year         = {2011},
}