Ubc9 gene polymorphisms and late-onset Alzheimer's disease in the Korean population

A genetic association study

Kyungsook Ahn, Ju Hee Song, Doh Kwan Kim, Moon Ho Park, Sangmee A. Jo, Young Ho Koh

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Ubiquitin-conjugating enzyme E2I (Ubc9) ligates small ubiquitin-related modifier (SUMO) to target proteins, resulting in changes of their localization, activity, or stability. Sumoylation of amyloid precursor protein (APP) was reported to be associated with decreased levels of beta amyloid (Aβ) aggregates, suggesting that sumoylation may play a role in the pathogenesis of Alzheimer's disease (AD). We investigated the association between genetic variations of Ubc9 gene (UBE2I) and late-onset Alzheimer's disease (AD). Five single nucleotide polymorphisms (SNPs) in UBE2I were genotyped in the DNA samples of 312 AD patients, 347 subjects with mild cognitive impairment (MCI), and 489 cognitively healthy controls. The genotype distribution of a polymorphism in intron 7 (rs761059) differed between AD cases and controls, with an adjusted odds ratio (OR) of 1.45 (p = 0.046, 95% CI: 1.01-2.08). One haplotype (ht2 CAGAG) was found in 14.0% of the AD patients and in 11.1% of the controls (p = 0.04, OR = 1.43. 95% CI; 1.01-2.01). Stratification by the ApoE-ε4 allele gave no significant difference between the groups. When the samples were stratified by gender, the genotypes of two SNPs (rs8052688, rs8063) were significantly associated with the risk of MCI among women. Our investigation suggests that UBE2I polymorphisms might be associated with a risk of AD and MCI.

Original languageEnglish
Pages (from-to)272-275
Number of pages4
JournalNeuroscience Letters
Volume465
Issue number3
DOIs
Publication statusPublished - 2009 Nov 20

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Population Genetics
Genetic Association Studies
Alzheimer Disease
Sumoylation
Genes
Single Nucleotide Polymorphism
Odds Ratio
Genotype
Ubiquitin-Conjugating Enzymes
Amyloid beta-Protein Precursor
Apolipoproteins E
Ubiquitin
Amyloid
Introns
Haplotypes
Alleles
DNA
Cognitive Dysfunction
Proteins

Keywords

  • Alzheimer's diseases
  • MCI
  • SNP
  • UBC9

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Ubc9 gene polymorphisms and late-onset Alzheimer's disease in the Korean population : A genetic association study. / Ahn, Kyungsook; Song, Ju Hee; Kim, Doh Kwan; Park, Moon Ho; Jo, Sangmee A.; Koh, Young Ho.

In: Neuroscience Letters, Vol. 465, No. 3, 20.11.2009, p. 272-275.

Research output: Contribution to journalArticle

Ahn, Kyungsook ; Song, Ju Hee ; Kim, Doh Kwan ; Park, Moon Ho ; Jo, Sangmee A. ; Koh, Young Ho. / Ubc9 gene polymorphisms and late-onset Alzheimer's disease in the Korean population : A genetic association study. In: Neuroscience Letters. 2009 ; Vol. 465, No. 3. pp. 272-275.
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