Genetic analysis of tumor necrosis factor-alpha (TNF-alpha) G-308A and Saitohin Q7R polymorphisms with Alzheimer's disease

J Neurol Sci. 2008 Jul 15;270(1-2):148-51. doi: 10.1016/j.jns.2008.02.021. Epub 2008 Apr 8.

Abstract

Neuroinflammation and abnormal phosphorylation of TAU proteins have been implicated in the etiology of Alzheimer's disease (AD). Several studies have suggested the G-308A promoter polymorphism in one of the proinflammatory cytokine genes tumor necrosis factor-alpha (TNF-alpha) encoding TNF-alpha may be associated with AD pathogenesis. Association between the Q7R polymorphism in saitohin (STH), a gene nested within the intron of the Tau gene, has also been reported. To determine whether these two polymorphisms contribute to the risk for late-onset AD (LOAD) in Chinese, we have investigated 207 sporadic LOAD patients and 222 healthy controls. The associations of the AA genotype and A-allele with LOAD (chi(2) = 8.74, df = 1, P = 0.0031, and chi(2) = 4.47, df = 1, P = 0.035) were found. After stratifying by apolipoprotein E allele 4 (APOE epsilon4) status, increased LOAD risks associated with the AA genotype and A-allele only in the APOE epsilon4 non-carriers (chi(2) = 9.21, df = 1, P = 0.002; chi(2) = 10.02, df = 1, P = 0.0015) were seen. These results suggested that the TNF-alpha gene G-308A polymorphism might be a risk factor for LOAD and dependent on APOE epsilon4 status in Chinese. Homozygous Q/Q of STH Q7R polymorphism was the only one genotype found in either LOAD group or controls. No R allele was detected in LOAD and control groups. The extremely rare frequency of the ancestral R allele differs sharply from that observed in studies in the Caucasian population, suggesting obvious ethnic differences.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alzheimer Disease / genetics*
  • Apolipoprotein E4 / genetics
  • Arginine / genetics*
  • Chi-Square Distribution
  • China / epidemiology
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genotype
  • Glutamine / genetics*
  • Humans
  • Male
  • Polymorphism, Genetic / genetics*
  • Tumor Necrosis Factor-alpha / genetics*
  • tau Proteins / genetics*

Substances

  • Apolipoprotein E4
  • STH protein, human
  • Tumor Necrosis Factor-alpha
  • tau Proteins
  • Glutamine
  • Arginine