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Genetic effect of <i>MTHFR</i> C677T, A1298C, and A1793G polymorphisms on the age at onset, plasma homocysteine, and white matter lesions in Alzheimer's disease in the Chinese population

Yaling Jiang, Xuewen Xiao, Yafei Wen, Meidan Wan, Lu Zhou, Xixi Liu, Xin Wang, Lina Guo, Hui Liu, Yafang Zhou, Junling Wang, Xinxin Liao, Lu Shen, Bin Jiao

2021Aging15 citationsDOIOpen Access PDF

Abstract

BACKGROUND: gene (C677T, A1298C, and A1793G) were reported associated with AD. However, their genotype distributions and associations with age at onset (AAO), homocysteine, and white matter lesions (WML) were unclear in the Chinese AD population. METHOD: gene using Sanger sequencing in a Chinese cohort comprising 721 AD patients (318 early-onset AD patients (EOAD) and 403 late-onset AD patients (LOAD)) and 365 elderly controls. Additionally, the homocysteine level and WML were evaluated in 121 AD patients. RESULTS: = 0.013). CONCLUSIONS: The genotype distributions of C677T and A1298C polymorphisms are associated with AD in the Chinese population. Moreover, AD patients with C677T polymorphism are prone to present an earlier onset, higher homocysteine level, and more severe WML.

Topics & Concepts

Methylenetetrahydrofolate reductaseHomocysteineMedicineDiseaseWhite matterWhite (mutation)HyperintensityInternal medicineGeneticsAlleleBiologyMagnetic resonance imagingGeneRadiologyFolate and B Vitamins ResearchAlzheimer's disease research and treatmentsAdvanced MRI Techniques and Applications