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

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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.


  • Thiemo Rudolph
  • Annica Sjolander
  • Mona Seibt Palmer
  • Lennart Minthon
  • Anders Wallin
  • Niels Andreasen
  • Gunnar Tasa
  • Erkki Juronen
  • Kaj Blennow
  • Henrik Zetterberg
  • Madeleine Zetterberg
Enheter & grupper

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Oftalmologi
Sidor (från-till)75-79
TidskriftOphthalmic Genetics
Utgåva nummer2
StatusPublished - 2011
Peer review utfördJa