Related Experiment Video

Updated: Jun 12, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Replication of CLU, CR1, and PICALM associations with alzheimer disease

Minerva M Carrasquillo1, Olivia Belbin, Talisha A Hunter

  • 1Department of Neuroscience, Mayo Clinic, 4500 San Pablo Rd, Birdsall Building, Jacksonville, FL 32224, USA.

Archives of Neurology
|June 18, 2010
PubMed
Abstract

Insights

Genetic variants in CLU, CR1, and PICALM genes are associated with late-onset Alzheimer disease (LOAD). This study replicated these findings, providing strong evidence for their role in LOAD risk.

Area of Science:

  • Genetics
  • Neuroscience
  • Medical Research

Background:

  • Alzheimer disease (AD) is a progressive neurodegenerative disorder.
  • Genetic factors play a significant role in the risk of developing late-onset Alzheimer disease (LOAD).
  • Previous studies identified associations between variants in CLU, CR1, and PICALM genes and LOAD risk.

Purpose of the Study:

  • To replicate the association between specific gene variants (CLU, CR1, PICALM) and late-onset Alzheimer disease (LOAD).
  • To provide further evidence supporting the role of these genes in LOAD pathogenesis.

Main Methods:

  • A case-control association study was conducted.
  • Participants included 1829 LOAD cases and 2576 controls of European descent from the Mayo Clinic and NCRAD.
  • Allelic association of single-nucleotide polymorphisms in CLU (rs11136000), CR1 (rs3818361), and PICALM (rs3851179) with LOAD was tested.

Main Results:

  • Replication of the association between CLU, CR1, and PICALM variants with LOAD was observed.
  • Odds ratios were 0.82 for CLU, 1.15 for CR1, and 0.80 for PICALM, consistent with prior reports.
  • P values remained significant after Bonferroni correction, indicating robust associations.

Conclusions:

  • The study provides strong replication of the association between CLU, CR1, and PICALM gene variants and LOAD risk.
  • These findings reinforce the role of these genes in the genetic susceptibility to late-onset Alzheimer disease.

More Related Videos

Imaging the Intracellular Trafficking of APP with Photoactivatable GFP07:55

Imaging the Intracellular Trafficking of APP with Photoactivatable GFP

Published on: October 17, 2015

Saccharomyces cerevisiae Models of Alzheimer's Disease to Screen Genes, Mutations, and Chemicals Affecting Amyloid Beta Production by γ-Secretase11:57

Saccharomyces cerevisiae Models of Alzheimer's Disease to Screen Genes, Mutations, and Chemicals Affecting Amyloid Beta Production by γ-Secretase

Published on: June 24, 2025

Related Concept Videos

Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Alzheimer's Disease: Overview01:26

Alzheimer's Disease: Overview

Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
Alzheimer's Disease: Treatment01:22

Alzheimer's Disease: Treatment

Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
Dementia l: Introduction01:22

Dementia l: Introduction

Dementia is an acquired, progressive syndrome characterized by a decline in multiple cognitive domains severe enough to impair daily functioning and reduce independence. Although memory loss is a central feature, the diagnosis requires additional deficits involving language, executive function, visuospatial skills, judgment, calculation, or abstract reasoning. These cognitive impairments reflect underlying neurodegenerative or vascular processes that gradually disrupt neuronal networks...