Complement gene single nucleotide polymorphisms and biomarker endophenotypes of Alzheimer's disease

J Alzheimers Dis. 2013;35(1):51-7. doi: 10.3233/JAD-121930.

Abstract

The complement system has been implicated in both physiological synapse elimination and Alzheimer's disease (AD). Here, we investigated associations between four single nucleotide polymorphisms (SNPs) in complement genes and cerebrospinal fluid (CSF) biomarkers for AD in 452 neurochemically or neuropathologically verified AD cases and 678 cognitively normal controls. None of the SNPs associated with risk of AD but there were potential associations of rs9332739 in the C2 gene and rs4151667 in the complement factor B gene with CSF tau levels (p = 0.023) and Mini-Mental State Examination scores (p = 0.012), both of which may be considered markers of disease intensity/severity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / cerebrospinal fluid*
  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics*
  • Biomarkers / cerebrospinal fluid
  • Case-Control Studies
  • Endophenotypes / cerebrospinal fluid*
  • Female
  • Genetic Markers / genetics*
  • Humans
  • Male
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • Biomarkers
  • Genetic Markers