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

页码：75 / 79

页数：5