MTHFR C677T基因多态性与脑小血管病认知功能障碍的相关性研究 Correlation between MTHFR C677T Gene Polymorphism and Cognitive Impairment in Patients with Cerebral Small Vessel Disease
Bibliographic record
Abstract
目的 探讨MTHFR C677T基因多态性与脑小血管病（cerebral small vessel disease，CSVD）患者认知功 能障碍的相关性。 方法 选取2017年12月-2019年3月在潍坊市人民医院神经内科就诊的门诊及住院CSVD患者，参照 蒙特利尔认知评估量表（Montreal cognitive assessment，MoCA）和临床痴呆评定量表评分，将患者分为 3组：认知功能正常组，轻度认识功能障碍组和痴呆组。所有患者均取晨起空腹静脉血测定Hcy水平 及MTHFR C677T基因型，分析Hcy水平、MTHFR C677T基因型与CVSD患者认知功能障碍的相关性。 结果 共纳入130例CSVD患者，其中男性87例（66.9%）。认知功能正常组63例，轻度认识功能障碍 组35例，痴呆组32例。痴呆组患者血清Hcy水平高于轻度认知功能障碍组（P＜0.001）和认知功能正 常组（P＜0.001），轻度认知功能障碍组血清Hcy水平高于认知功能正常组（P＜0.001）。Hcy水平与 CSVD患者认知功能下降程度正相关（r =0.626，P＜0.001）。MTHFR 677 C→T基因突变与CSVD患者 认知功能下降程度正相关（r =0.359，P =0.001）。T等位基因频率与CSVD患者认知功能障碍弱正相关 （r =0.273，P＜0.001）。 结论 MTHFR 677 C→T基因突变与CSVD患者认知功能障碍的发生及进展正相关，可作为早期预测 认知功能障碍的血清学标志物之一。 Abstract: Objective To investigate the correlation between MTHFR C677T gene polymorphism and cognitive impairment in patients with cerebral small vessel disease (CSVD). Methods This was a retrospective study which included the CSVD outpatients and inpatients in Department of Neurology,Weifang People's Hospital between December 2017 to March 2019. Based on the Montreal cognitive assessment (MoCA) and clinical dementia rating (CDR) score, the patients were divided into three groups: normal cognition group, mild cognitive impairment group and dementia group. The level of homocysteine (Hcy), and MTHFR C677T phenotype were measured. The relationship between cognitive function and Hcy or MTHFR C677T phenotype were analyzed by comparing the above data among three groups. Results A total of 130 CSVD patients were enrolled into this study, including 87 males (66.9%), and with 63 patients in normal cognition group, 35 patients in mild cognitive impairment group and 32 patients in dementia group. The Hcy level in dementia group was significantly higher than that in mild cognitive impairment group (P <0.001) and normal cognition group (P <0.001). The Hcy level in mild cognitive impairment group was significantly higher than that in normal cognition group (P <0.001).The level of Hcy was positively correlated with cognitive decline (r =0.626, P <0.001). The frequency of C677T MTHFR mutation (C→T) genotype was positively correlated with cognitive decline (r =0.359, P =0.001). The frequency of T allele was positively correlated with cognitive decline (r =0.273, P <0.001). Conclusions MTHFR 677 C→T gene mutation was associated with cognitive decline, and it can be used as an early serum predictor for cognitive impairment in CSVD.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".