MTHFR gene A1298C (rs1801131) polymorphism and its correlations with cerebrospinal fluid biomarkers, cognitive level, and brain structure changes in patients with Alzheimer’s disease

Autor: MA Yuju, HUANG Liangyu, CHEN Jiaru, TAN Lan
Jazyk: čínština
Rok vydání: 2024
Předmět:
Zdroj: 精准医学杂志, Vol 39, Iss 6, Pp 514-518 (2024)
Druh dokumentu: article
ISSN: 2096-529X
DOI: 10.13362/j.jpmed.202406010
Popis: Objective To investigate the relationship of A1298C (rs1801131) polymorphism in the MTHFR gene encoding methylenetetrahydrofolate reductase with the cerebrospinal fluid β-amyloid 1-42 subtype (Aβ1-42) level, cognitive level, and brain structure changes in patients with Alzheimer’s disease (AD). Methods A total of 1 271 subjects who met the inclusion criteria in the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database were selected. A multivariable linear regression model was used to analyze the relationship of MTHFR gene A1298C (rs1801131) polymorphism with cerebrospinal fluid Aβ1-42 level, cognitive level, and brain structure changes in AD patients. A mediation model was used to analyze the role of cerebrospinal fluid Aβ1-42 level in mediating the relationship between MTHFR gene A1298C (rs1801131) polymorphism and cognitive level. Results Multivariable linear regression model analysis showed that A1298C-C allele was negatively correlated with the level of Aβ1-42 in cerebrospinal fluid, hippocampal volume, and cognitive level (β=-0.121--0.084,t=-3.308--1.953,P
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