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

被引：5
|
作者：
Rudolph, Thiemo [1 ]
Sjolander, Annica [2 ]
Palmer, Mona Seibt [3 ]
Minthon, Lennart [4 ,5 ]
Wallin, Anders [2 ]
Andreasen, Niels [6 ]
Tasa, Gunnar [7 ]
Juronen, Erkki [7 ]
Blennow, Kaj [2 ]
Zetterberg, Henrik [2 ]
Zetterberg, Madeleine [1 ]
机构：
[1] Univ Gothenburg, Sahlgrenska Acad, Sect Ophthalmol, Dept Clin Neurosci & Rehabil,Inst Neurosci & Phys, Molndal, Sweden
[2] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Psychiat & Neurochem, Molndal, Sweden
[3] Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Dept Clin Chem & Transfus Med, Molndal, Sweden
[4] Malmo Univ Hosp, Neuropsychiat Clin, Malmo, Sweden
[5] Lund Univ, Clin Memory Res Unit, Dept Clin Sci, Lund, Sweden
[6] Karolinska Univ Hosp, Memory Clin, Dept Geriatr Med, Stockholm, Sweden
[7] Univ Tartu, Inst Gen & Mol Pathol, Dept Human Biol & Genet, EE-50090 Tartu, Estonia
来源：
OPHTHALMIC GENETICS | 2011年 / 32卷 / 02期
基金：
瑞典研究理事会;
关键词：
PARKINSONS-DISEASE SUSCEPTIBILITY; ALZHEIMERS-DISEASE; LENS TRANSPARENCY; EPITHELIAL-CELLS; UCH-L1; GENE; HYDROLASE; ASSOCIATION; AGE; PROTEINS; PATHWAY;
D O I：
10.3109/13816810.2010.544360
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：75 / 79
页数：5
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