Polymorphism of HD and UCHL-1 genes in Huntington's disease

J Clin Neurosci. 2009 Nov;16(11):1473-7. doi: 10.1016/j.jocn.2009.03.027. Epub 2009 Aug 14.

Abstract

This study analyzed the association between the polymorphism of the Huntington's disease (HD) and ubiquitin carboxyl-terminal hydrolase L1 (UCHL-1) genes and the age of HD onset. We examined the size of trinucleotide CAG repeats in the HD gene of 53 individuals from families with a history of HD, six unrelated HD patients, and 51 healthy controls. Polymerase chain reaction and restriction fragment length polymorphism was performed to examine UCHL-1 S18Y polymorphism prevalence in this group. We identified five HD patients in the families and four pre-clinical HD patients in their high-risk offspring. The differences in S18Y allele prevalence between families and healthy controls were not statistically significant. The SY genotype was identified most frequently (prevalence >50%). The YY genotype was not identified in non-related HD patients, and the SS genotype had a higher prevalence than the SY genotype. The S allele was identified more frequently than the Y allele, and the difference with healthy controls was significant. Multiple linear regression analysis revealed that UCHL-1 S18Y polymorphism accounted for 15.6% of variance in the age of disease onset among 11 patients. The number of CAG repeats accounted for 71.4% of the variance. The size of CAG repeats in the HD gene is an important factor affecting the age at disease onset, but is not the only factor. UCHL-1 S18Y polymorphism is a modifier of HD with a modest regulatory role in the age at disease onset, suggesting that UCHL-1 may be involved in HD pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Alleles
  • Chi-Square Distribution
  • Family Health
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Huntington Disease / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Genetic / genetics*
  • Serine / genetics
  • Trinucleotide Repeat Expansion / genetics*
  • Tyrosine / genetics
  • Ubiquitin Thiolesterase / genetics*
  • Young Adult

Substances

  • UCHL1 protein, human
  • Tyrosine
  • Serine
  • Ubiquitin Thiolesterase