Journal of Neural Transmission

, Volume 117, Issue 4, pp 499–503

Association analysis of CβS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer’s disease in Chinese

  • Xiu-Hua Bi
  • Hua-Lu Zhao
  • Zhen-Xin Zhang
  • Qian Liu
  • Jun-Wu Zhang
Dementias - Original Article

DOI: 10.1007/s00702-010-0383-x

Cite this article as:
Bi, XH., Zhao, HL., Zhang, ZX. et al. J Neural Transm (2010) 117: 499. doi:10.1007/s00702-010-0383-x

Abstract

Folate deficiency and elevated plasma homocysteine play important roles in pathogenesis of Alzheimer’s disease (AD). The aim of this study was to test the association of folate metabolism-related genes, cystathionine beta-synthase gene (CβS) and 5, 10-methylenetetrahydrofolate dehydrogenase gene (MTHFD1), with sporadic AD. The CβS 844ins68 polymorphism was determined by PCR and the MTHFD1 G1958A single nucleotide polymorphism (rs2236225) by PCR-RFLP. No significant difference of allele and genotype contributions of the CβS polymorphism between AD cases and controls was detected, before and after stratification by APOE ε4-carrying status, age/age at onset and genders. No significant difference of allele and genotype contributions of the MTHFD1 polymorphism between AD cases and controls was detected in total samples. When stratified by age/at onset age, we found that A allele and AA genotype frequencies in cases were higher than in controls and the differences were close to significant [A vs. G, P = 0.032, Odds ratio (OR) 1.642, 95% CI 1.040–2.591; AA + GA vs. GG, P = 0.068, OR 1.665, 95% CI 0.961–2.885; AA vs. GG, P = 0.059, OR 3.458, 95% CI 0.894–13.369] in <65 years groups, which suggested that the MTHFD1 G1958A A allele might be a weak risk factor for early onset AD although it needs further confirmation.

Keywords

Alzheimer’s disease Cystathionine beta-synthase gene (CβS5, 10-Methylenetetrahydrofolate dehydrogenase gene (MTHFD1Gene polymorphisms Association study 

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Xiu-Hua Bi
    • 1
  • Hua-Lu Zhao
    • 1
  • Zhen-Xin Zhang
    • 2
  • Qian Liu
    • 1
  • Jun-Wu Zhang
    • 1
  1. 1.National Laboratory of Medical Molecular Biology, Institute of Basic Medical SciencesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingPeople’s Republic of China
  2. 2.Department of Neurology, Peking Union HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingPeople’s Republic of China

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