title: Association of tripartite motif family-like 2 (TRIML2) polymorphisms with late-onset Alzheimer's disease risk in a Korean population.
abstract: Apoptosis is a prominent feature in the progression of Alzheimer's disease (AD), regulated in part by the activity of p53. As tripartite motif family-like 2 (TRIML2), a member of the TRIM family of proteins, has been implicated in the regulation of p53-mediated apoptosis, we hypothesized that TRIML2 polymorphisms may result in an increased AD susceptibility. Here, we investigated the association between coding region single nucleotide polymorphisms (cSNPs) in TRIML2 and AD in a Korean population. Two cSNPs (rs79698746 and rs2279551) were genotyped using the Sequenom iPLEX(®) Gold assay and direct sequencing in 162 AD patients and 191 controls. Multiple logistic regression models were used to determine the odds ratios, 95% confidence intervals, and p-values. Significant associations were observed between AD and the allelic frequencies of two SNPs (rs79698746, p=0.007; rs2279551, p=0.01); genotype frequencies were also significantly different between the two groups [rs79698746: p=0.003 in the codominant 2 model (CC vs. TT), p=0.01 in the dominant model (TC/CC vs. TT), p=0.016 in the recessive model (CC vs. TT/TC), and p=0.0025 in the log-additive model (TC vs. CC vs. TT); rs2279551: p=0.003 in the codominant 2 model (CC vs. TT), p=0.011 in the dominant model (TC/CC vs. TT), p=0.019 in the recessive model (CC vs. TT/TC), and p=0.0028 in the log-additive model (TC vs. CC vs. TT)]. In the haplotype analyses, CC haplotypes containing two cSNPs were significantly associated with AD (p=0.013). Taken together, these findings indicate that the C allele of both SNPs was associated with an increased risk of AD. These results suggest that TRIML2 may contribute to AD susceptibility.
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
authors.forename: Won Sub
authors.initials: WS
authors.lastname: Kang
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
authors.forename: Jin Kyung
authors.initials: JK
authors.lastname: Park
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
authors.forename: Young Jong
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
authors.forename: Ah Rang
authors.initials: AR
authors.lastname: Cho
authors.affiliation: Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
authors.forename: Hae Jeong
authors.initials: HJ
authors.lastname: Park
authors.affiliation: Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
authors.forename: Su Kang
authors.initials: SK
authors.lastname: Kim
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea.
authors.forename: Jong-Woo
authors.initials: JW
authors.lastname: Paik
authors.affiliation: Department of Psychiatry, College of Medicine, Inje University, Ilsan Paik Hospital, Goyang, Republic of Korea.
authors.forename: Kang Joon
authors.initials: KJ
authors.lastname: Lee
authors.affiliation: Department of Neurology, Bobath Memorial Hospital, Seongnam 13618, Republic of Korea.
authors.forename: Hae Ri
authors.initials: HR
authors.lastname: Na
authors.affiliation: Division of Brain Diseases, Center for Biomedical Science, National Institute of Health Osong Health Technology Administration Complex, Cheongju 28161, Republic of Korea.
authors.forename: Young Youl
authors.initials: YY
authors.lastname: Kim
authors.affiliation: Department of Psychiatry, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, Suwon, Republic of Korea.
authors.forename: Hyun Kook
authors.initials: HK
authors.lastname: Lim
authors.affiliation: Department of Psychiatry, Korea University Guro Hospital, Korea University College of Medicine, Gurodongro 148, Gurogu, Seoul, Republic of Korea.
authors.forename: Hyun-Ghang
authors.initials: HG
authors.lastname: Jeong
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 02447, Republic of Korea. Electronic address: mtsa85@naver.com.
authors.forename: Jong Woo
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D012307:Risk Factors
chemical_list: D002352:Carrier Proteins; C000602872:TRIML2 protein, human
keywords: Alzheimer’s disease; Apoptosis; Tripartite motif family-like 2 (TRIML2) gene