Variant "UBE2I:c.413+1665G>C"
Search result: 1 record
Variant information
Gene:
UBE2I 
Variant:
UBE2I:c.413+1665G>C 
Genomic location:
chr16:1372183(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_003345.4:c.413+1665G>C
protein_coding NM_194260.2:c.413+1665G>C
protein_coding NM_194261.2:c.413+1665G>C
protein_coding NM_194259.2:c.413+1665G>C
dbSNP ID:
rs8052688  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Alzheimer's Disease (DOID_10652)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P<0.05 
    Effect:
    The genotypes of two SNPs (rs8052688, rs8063) were significantly associated with the risk of MCI among women
    Reference:
    PMID19765634
    Title:
    Ubc9 gene polymorphisms and late-onset Alzheimer's disease in the Korean population: a genetic association study.
    Species studied:
    Human
    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 (Abeta) 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-epsilon4 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.