No Association of LOXL1 Gene Polymorphisms with Alzheimer's Disease

Research output: Contribution to journalArticle


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 epsilon 4 genotype and to CSF (T-tau, P-tau, and A beta(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.


  • Alexandra Abramsson
  • Sara Landgren
  • Madeleine Zetterberg
  • Mona Seibt Palmer
  • Lennart Minthon
  • Deborah R. Gustafson
  • Ingmar Skoog
  • Kaj Blennow
  • Henrik Zetterberg
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Neurosciences


  • Lysyl oxidase-like 1, LOXL1, Alzheimer's disease, SNP, Haplotype
Original languageEnglish
Pages (from-to)160-166
JournalNeuroMolecular Medicine
Issue number2
Publication statusPublished - 2011
Publication categoryResearch