Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.
BACKGROUND
Cataract is characterized by light-scattering protein aggregates. The ubiquitin-proteasome system has been proposed a role in proteolytic removal of these protein aggregates. Ubiquitin carboxyl-terminal esterase L1 (UCHL1) is a de-ubiquitinating enzyme with important functions in recycling of ubiquitin. A protective role of the p.S18Y polymorphism of the UCHL1 gene has been shown in Parkinson`s disease. The current study aimed to examine possible effects on cataract formation.


METHODS
Patients with cataract (n = 493) and controls (n = 142) were analyzed for the UCHL1 p.S18Y polymorphism using dynamic allele-specific hybridization.


RESULTS
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.


CONCLUSIONS
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.
Department of Clinical Neuroscience and Rehabilitation, Institute of Neuroscience and Physiology, Section of Ophthalmology, The Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden. thiemo.rudolph@gmail.com
Thiemo
T
Rudolph
Annica
A
Sjölander
Mona Seibt
MS
Palmér
Lennart
L
Minthon
Anders
A
Wallin
Niels
N
Andreasen
Gunnar
G
Tasa
Erkki
E
Juronen
Kaj
K
Blennow
Henrik
H
Zetterberg
Madeleine
M
Zetterberg
D000368:Aged; D000369:Aged, 80 and over; D002386:Cataract / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
C482860:UCHL1 protein, human; D043222:Ubiquitin Thiolesterase
Neurology. 1999 Nov 10;53(8):1858-60
10563640
Nephrol Dial Transplant. 2005 Dec;20(12):2714-9
16188900
Parkinsonism Relat Disord. 2007 Jul;13(5):295-8
17287139
Carcinogenesis. 2009 Sep;30(9):1562-70
19587092
Nature. 1983 Mar 31-Apr 6;302(5907):415-7
6835373
Science. 1989 Nov 3;246(4930):670-3
2530630
Mov Disord. 2003 Feb;18(2):130-7
12539205
J Cataract Refract Surg. 2002 Nov;28(11):2035-9
12457681
FASEB J. 2005 Oct;19(12):1707-9
16099947
J Clin Neurosci. 2009 Nov;16(11):1473-7
19683447
Neurosci Lett. 2005 Jun 10-17;381(1-2):131-4
15882803
Cell Tissue Res. 2004 Oct;318(1):189-94
15221445
Curr Eye Res. 2003 Jul;27(1):45-53
12868008
Genetics. 2009 May;182(1):3-9
19403867
Cell. 2002 Oct 18;111(2):209-18
12408865
Exp Eye Res. 2008 Dec;87(6):496-501
18835387
Genome Res. 2001 Jan;11(1):152-62
11156624
Nature. 1998 Oct 1;395(6701):451-2
9774100
Ann Neurol. 2004 Apr;55(4):512-21
15048890
Mol Aspects Med. 2009 Aug;30(4):191-296
19371762
J Cell Mol Med. 2008 Apr;12(2):363-73
18266959
J Neurochem. 2007 Jun;101(5):1172-84
17286590
Am J Epidemiol. 2009 Dec 1;170(11):1344-57
19864305
Brain Res. 2006 May 4;1087(1):28-32
16626667
J Clin Oncol. 2009 Dec 20;27(36):6109-16
19901108
Eur J Neurol. 2008 Feb;15(2):134-9
18093156
Ann Neurol. 2006 Apr;59(4):627-33
16450370
Arch Ophthalmol. 1998 Feb;116(2):219-25
9488275
J Comp Neurol. 1992 Aug 1;322(1):35-44
1430309
Neurosci Res. 2006 Jul;55(3):334-41
16698101
Mol Neurodegener. 2010 Mar 19;5:11
20302621