title: Polymorphisms of small ubiquitin-related modifier genes are associated with risk of Alzheimer's disease in Korean: A case-control study.
abstract: Sumoylation regulates transcription factor transactivation, protein-protein interactions, and appropriate subcellular localization of certain proteins. Previous studies have shown that sumoylation of amyloid precursor protein (APP) is associated with decreased levels of amyloid beta (Aβ) proteins, suggesting that sumoylation may play a role in the pathogenesis of Alzheimer's disease (AD). We investigated the association between polymorphisms of the SUMO genes and the risk of AD. Our study subjects consisted of 144 AD patients and 335 healthy controls without dementia. We focused on tagged single nucleotide polymorphisms (tagSNPs) of the SUMO1 and SUMO2 genes. The tagSNPs were amplified by PCR and sequenced. We used binary logistic regression to calculate odds ratios (ORs) with 95% confidence intervals (CIs) for the associations between SUMO gene polymorphisms and the risk of AD. We found that rs12472035 polymorphism of SUMO1 was significantly associated with an increased risk of AD in male group (the CT genotype of rs12472035: adjusted OR=8.737, 95% CI=2.041-37.41, p-value=0.003). In addition, two polymorphisms of SUMO2 were significantly associated with an increased risk of AD in female group (the GA genotype of rs35271045: adjusted OR=2.879, 95% CI=1.399-5.924, p-value=0.004; and the TC genotype of rs9913676: adjusted OR=2.460, 95% CI=1.197-5.057, p-value=0.014). Furthermore, three combinations were associated with an increased risk of AD. Our data suggest that three individual polymorphisms and three combinations may be potential risk factors for AD in Korean population.
authors.affiliation: Department of Chemistry, School of Natural Science, Dankook University, Cheonan 330-714, South Korea; Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan 330-714, South Korea; Institute of Tissue Regeneration Engineering (ITREN), Dankook University, Cheonan 330-714, South Korea.
authors.forename: Myung-Jin
authors.initials: MJ
authors.lastname: Mun
authors.affiliation: Department of Chemistry, School of Natural Science, Dankook University, Cheonan 330-714, South Korea.
authors.forename: Jin-Ho
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Department of Chemistry, School of Natural Science, Dankook University, Cheonan 330-714, South Korea.
authors.forename: Ji-Young
authors.initials: JY
authors.lastname: Choi
authors.affiliation: Department of Chemistry, School of Natural Science, Dankook University, Cheonan 330-714, South Korea.
authors.forename: Min-Seon
authors.initials: MS
authors.lastname: Kim
authors.affiliation: Department of Chemistry, School of Natural Science, Dankook University, Cheonan 330-714, South Korea.
authors.forename: Won-Cheoul
authors.initials: WC
authors.lastname: Jang
authors.affiliation: Department of Psychiatry, College of Medicine, Dankook University, Cheonan, South Korea; Department of Psychiatry, Dankook University Hospital, Cheonan, South Korea.
authors.forename: Jung Jae
authors.initials: JJ
authors.lastname: Lee
authors.affiliation: Department of Psychiatry, Dankook University Hospital, Cheonan, South Korea.
authors.forename: Young Lee
authors.initials: YL
authors.lastname: Eun
authors.affiliation: Department of Biochemistry, College of Medicine, Dankook University, Cheonan, South Korea.
authors.forename: Shang-June
authors.initials: SJ
authors.lastname: Kwak
authors.affiliation: Department of Neuropsychiatry, Seoul National University Bundang Hospital, Seongnam, South Korea.
authors.forename: Ki Woong
authors.initials: KW
authors.lastname: Kim
authors.affiliation: Department of Psychiatry, College of Medicine, Dankook University, Cheonan, South Korea; Department of Psychiatry, Dankook University Hospital, Cheonan, South Korea. Electronic address: bumlee@dankook.ac.kr.
authors.forename: Seok Bum
authors.initials: SB
authors.lastname: Lee
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000150:complications / Q000235:genetics*; D016022:Case-Control Studies; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011569:Psychiatric Status Rating Scales; D056910:Republic of Korea; D012307:Risk Factors; D025842:SUMO-1 Protein / Q000235:genetics*; D012737:Sex Factors; D025841:Small Ubiquitin-Related Modifier Proteins / Q000235:genetics*
chemical_list: D025842:SUMO-1 Protein; C117909:SUMO2 protein, human; D025841:Small Ubiquitin-Related Modifier Proteins
keywords: Alzheimer's disease; Single nucleotide polymorphism; Small ubiquitin related modifier