title: No association of LOXL1 gene polymorphisms with Alzheimer's disease.
abstract: Aggregation of amyloid-beta is one of the major characteristics in brains of patients with Alzheimer's disease (AD). Although several mechanisms behind the formation of such aggregates have been suggested the regulatory factors are still unknown. The present study aimed at investigating the association of lysyl oxidase-like 1 (LOXL1) polymorphisms with AD diagnosis and cerebrospinal fluid biomarkers (CSF) for the disease. Proteins of the lysyl oxidase (LOX) family are involved in cross-linking extracellular matrix proteins to insoluble fibers and have been associated with neurodegenerative diseases including AD. Genetic polymorphisms in LOXL1 (rs1048661, rs3825942, and rs2165241) have been linked to exfoliation syndrome and exfoliation glaucoma, conditions that have shown association with AD. The polymorphisms were genotyped by Taqman allelic discrimination in a study sample including AD patients (n = 318) and controls (n = 575). In a subgroup of the population, the polymorphisms were analyzed in relation to APOE ε4 genotype and to CSF (T-tau, P-tau, and Aβ(1-42)). No evidence for associations of these polymorphisms with risk for AD or any of the studied CSF biomarkers measured was found. These results do not support LOXL1 as being a major risk gene for AD.
authors.affiliation: Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden. alexandra.abramsson@neuro.gu.se
authors.forename: Alexandra
authors.initials: A
authors.lastname: Abramsson
authors.forename: Sara
authors.initials: S
authors.lastname: Landgren
authors.forename: Madeleine
authors.initials: M
authors.lastname: Zetterberg
authors.forename: Mona
authors.initials: M
authors.lastname: Seibt Palmer
authors.forename: Lennart
authors.initials: L
authors.lastname: Minthon
authors.forename: Deborah R
authors.initials: DR
authors.lastname: Gustafson
authors.forename: Ingmar
authors.initials: I
authors.lastname: Skoog
authors.forename: Kaj
authors.initials: K
authors.lastname: Blennow
authors.forename: Henrik
authors.initials: H
authors.lastname: Zetterberg
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human