title: Extremely rare incidence of the UBQLN1 polymorphism (UBQ-8i) in Taiwan Chinese with Alzheimer's disease.
abstract: Recently, a single nucleotide polymorphism (SNP, A-->G) in intron 8 of UBQLN 1 at the rs12344615 site (UBQ-8i) on chromosome 9q22 was associated with a higher risk of late-onset Alzheimer's disease (AD). Here, we aimed to investigate whether an association exists between the UBQ-8i polymorphism and AD in Taiwan Chinese. Initially, we included 100 late-onset AD patients and 100 gender- and age-matched non-demented (ND) control participants. The UBQ-8i polymorphism site was successfully determined in 91 AD and 96 ND individuals using the dye terminator nucleotide sequencing technique. Among the 187 participants, we did not detect any subject carrying the G allele. This finding is in agreement with the report listed in the NCBI SNP Reference Assembly, which states that <1% of Asians carry this SNP. The APOE varepsilon4 allele, an established AD genetic risk factor, was overrepresented in the AD cohort. We conclude from these results that the UBQ-8i polymorphism of the UBQLN1 gene is extremely rare in Taiwan Chinese and unlikely to play a significant role in the risk of AD in Taiwan Chinese.
authors.affiliation: Department of Psychiatry, Taichung Veterans General Hospital, Taichung, Taiwan.
authors.forename: Liang-Jen
authors.initials: LJ
authors.lastname: Chuo
authors.forename: Shwu-Tzy
authors.initials: ST
authors.lastname: Wu
authors.forename: Hong-I
authors.initials: HI
authors.lastname: Chang
authors.forename: Yu-Min
authors.initials: YM
authors.lastname: Kuo
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics; D044466:Asian People; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D053327:Apolipoprotein E4; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; D018797:Cell Cycle Proteins; C107792:UBQLN1 protein, human