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
相关论文
共 50 条
  • [31] Detection of Pancreatobiliary Cancer by Hypermethylation of the Ubiquitin Carboxyl-Terminal Esterase L1 Gene in Pancreatobiliary Fluids
    Yamamoto, Hiroyuki
    Sukawa, Yasutaka
    Nosho, Katsuhiko
    Adachi, Yasushi
    Kunimoto, Hiroaki
    Igarashi, Hisayoshi
    Nakazawa, Mayumi
    Yamamoto, Eiichiro
    Suzuki, Hiromu
    Sasaki, Shigeru
    Shinomura, Yasuhisa
    GASTROENTEROLOGY, 2012, 142 (05) : S207 - S207
  • [32] Ubiquitin Carboxyl-Terminal Esterase L1 Promotes Proliferation of Human Choroidal and Retinal Endothelial Cells
    Pan, Yuzhen
    Appukuttan, Binoy
    Mohs, Kathleen
    Ashander, Liam M.
    Smith, Justine R.
    ASIA-PACIFIC JOURNAL OF OPHTHALMOLOGY, 2015, 4 (01): : 51 - 55
  • [33] UCHL1 S18Y variant is a risk factor for Parkinson’s disease in Japan
    Yoshihiro Miyake
    Keiko Tanaka
    Wakaba Fukushima
    Chikako Kiyohara
    Satoshi Sasaki
    Yoshio Tsuboi
    Tatsuo Yamada
    Tomoko Oeda
    Hiroyuki Shimada
    Nobutoshi Kawamura
    Nobutaka Sakae
    Hidenao Fukuyama
    Yoshio Hirota
    Masaki Nagai
    BMC Neurology, 12
  • [34] UCHL1 S18Y variant is a risk factor for Parkinson's disease in Japan
    Miyake, Yoshihiro
    Tanaka, Keiko
    Fukushima, Wakaba
    Kiyohara, Chikako
    Sasaki, Satoshi
    Tsuboi, Yoshio
    Yamada, Tatsuo
    Oeda, Tomoko
    Shimada, Hiroyuki
    Kawamura, Nobutoshi
    Sakae, Nobutaka
    Fukuyama, Hidenao
    Hirota, Yoshio
    Nagai, Masaki
    BMC NEUROLOGY, 2012, 12
  • [35] Ubiquitin Carboxyl-Terminal Hydrolase L1 and Its Role in Parkinson's Disease
    Buneeva, Olga
    Medvedev, Alexei
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (02)
  • [36] Ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) is a potential tumour suppressor in prostate cancer and is frequently silenced by promoter methylation
    Ummanni, Ramesh
    Jost, Edgar
    Braig, Melanie
    Lohmann, Frithjof
    Mundt, Frederike
    Barett, Christine
    Schlomm, Thorsten
    Sauter, Guido
    Senff, Tina
    Bokemeyer, Carsten
    Sueltmann, Holger
    Meyer-Schwesinger, Catherine
    Bruemmendorf, Tim H.
    Balabanov, Stefan
    MOLECULAR CANCER, 2011, 10
  • [37] UBIQUITIN C-TERMINAL HYDROLASE L1 (UCHL1) AND THE TERRIBLE, NO GOOD OVARIAN FOLLICLE
    Gadson, Alexis K.
    Woodman, Morgan F.
    Grive, Kathryn J.
    FERTILITY AND STERILITY, 2022, 118 (04) : E38 - E38
  • [38] Frequent CpG methylation of ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) in sporadic and hereditary Tunisian breast cancer patients: clinical significance
    Fatma Trifa
    Sondes Karray-Chouayekh
    Zeineb Ben Jmaa
    Emna Jmal
    Abdelmajid Khabir
    Tahia Sellami-Boudawara
    Mounir Frikha
    Jamel Daoud
    Raja Mokdad-Gargouri
    Medical Oncology, 2013, 30
  • [39] Ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) is a potential tumour suppressor in prostate cancer and is frequently silenced by promoter methylation
    Ramesh Ummanni
    Edgar Jost
    Melanie Braig
    Frithjof Lohmann
    Frederike Mundt
    Christine Barett
    Thorsten Schlomm
    Guido Sauter
    Tina Senff
    Carsten Bokemeyer
    Holger Sültmann
    Catherine Meyer-Schwesinger
    Tim H Brümmendorf
    Stefan Balabanov
    Molecular Cancer, 10
  • [40] UBIQUITIN C-TERMINAL HYDROLASE L1 (UCHL1) ANTIBODY PRODUCTION IN NEPHROTIC SYNDROME
    Chebotareva, Natalia
    Vinogradov, Anatoliy
    Cao, Wenjing
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2022, 37 : I160 - I160
12345