Correlations between plasma homocysteine and MTHFR gene polymorphism and white matter lesions

Li, Min; Fu, Bing; Dong, Wanli

doi:10.5114/fn.2018.80863

Cited by 10 publications

(5 citation statements)

References 30 publications

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“…Previous studies have shown that advanced age and elevated blood pressure are significant causes of arteriosclerosis WMLs (11). Furthermore, elevated homocysteine, a well-known risk factor for arteriosclerosis (11), was found to be higher in the patients with moderate-severe WMLs, which is consistent with previous findings that homocysteine levels are positively correlated with the volume of arteriosclerotic WMLs (33)(34)(35). Hence, the WMLs investigated in the current study was further indicated to be of the arteriosclerotic subtype.…”

Section: Discussionsupporting

confidence: 90%

Predicting the severity of white matter lesions among patients with cerebrovascular risk factors based on retinal images and clinical laboratory data: a deep learning study

et al. 2023

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Background and purposeAs one common feature of cerebral small vascular disease (cSVD), white matter lesions (WMLs) could lead to reduction in brain function. Using a convenient, cheap, and non-intrusive method to detect WMLs could substantially benefit to patient management in the community screening, especially in the settings of availability or contraindication of magnetic resonance imaging (MRI). Therefore, this study aimed to develop a useful model to incorporate clinical laboratory data and retinal images using deep learning models to predict the severity of WMLs.MethodsTwo hundred fifty-nine patients with any kind of neurological diseases were enrolled in our study. Demographic data, retinal images, MRI, and laboratory data were collected for the patients. The patients were assigned to the absent/mild and moderate–severe WMLs groups according to Fazekas scoring system. Retinal images were acquired by fundus photography. A ResNet deep learning framework was used to analyze the retinal images. A clinical-laboratory signature was generated from laboratory data. Two prediction models, a combined model including demographic data, the clinical-laboratory signature, and the retinal images and a clinical model including only demographic data and the clinical-laboratory signature, were developed to predict the severity of WMLs.ResultsApproximately one-quarter of the patients (25.6%) had moderate–severe WMLs. The left and right retinal images predicted moderate–severe WMLs with area under the curves (AUCs) of 0.73 and 0.94. The clinical-laboratory signature predicted moderate–severe WMLs with an AUC of 0.73. The combined model showed good performance in predicting moderate–severe WMLs with an AUC of 0.95, while the clinical model predicted moderate–severe WMLs with an AUC of 0.78.ConclusionCombined with retinal images from conventional fundus photography and clinical laboratory data are reliable and convenient approach to predict the severity of WMLs and are helpful for the management and follow-up of WMLs patients.

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Section: Discussionsupporting

confidence: 90%

Predicting the severity of white matter lesions among patients with cerebrovascular risk factors based on retinal images and clinical laboratory data: a deep learning study

et al. 2023

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“…In the meta-analysis results published in 2019 and conducted in China in the elderly population with ischemic stroke, it was stated that the T allele of the C677T gene increased the ischemic stroke [41]. In the publication published in 2018 and investigating the relationship between white matter lesions and the genotypes of the MTHFR C677T gene, it was stated that the severity of white matter lesions was not related to the MTHFR C677T gene polymorphism [42].…”

Section: Discussionmentioning

confidence: 99%

“…There are studies on different prothrombotic gene mutations that are thought to be effective in the etiopathogenesis of cerebrovascular diseases. These studies focus on the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutation [11][12][13][14]. The human MTHFR gene is localized on chromosome 1p36.3 and encodes the MTHFR enzyme consisting of 656 amino acids.…”

Section: Introductionmentioning

confidence: 99%

Effect of Methylenetetrahydrofolate Reductase (MTHFR) gene mutations and oxidative stress in silent brain infarction

Koşar¹,

Tepebaşı²,

Şengeze³

et al. 2021

Preprint

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Ischemic infarctions occur under the influence of genetic and environmental factors. In our study, the role of ischemia-modified albumin and thiol balance, which are new markers in determining oxidative damage together with MTHFR gene mutations and homocysteine levels, in the development of SBI was investigated. White matter lesions in the magnetic resonance imaging (MRI) results of the patients were evaluated according to the Fazekas scale and divided into groups (Grade 0, 1, 2, and 3). Homocysteine, folate, B12, IMA, total thiol, and native thiol were measured by biochemical methods. The mutations in MTHFR genes were investigated by the RT-PCR method. According to our results, a significant difference was found between the groups in age, homocysteine, folate, IMA, total thiol, and native thiol parameters (p<0.05). When we compared the groups in terms of genotypes of the C677T gene, we found a significant difference in TT genotype between grades 0/3 and 1/3 (p<0.05). We determined that homocysteine and IMA levels increased and folate levels decreased in CC/TT and CT/TT genotypes in the C677T gene (p<0.05). Considering our results, the observation of homocysteine and IMA changes at the genotype level of the MTHFR C677T gene and between the groups, and the deterioration of thiol balance between the groups suggested that these markers can be used in the diagnosis of silent brain infarction.

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“…Additionally, it has been demonstrated that the decrement in the activity of the MTHFR enzyme reduces the serum folate concentration and increases the homocysteine (Hcy) levels (Jacques et al 1996;Kerkeni et al 2006). In this regard, Li et al (2018) in a Chinese population found higher serum concentrations of Hcy in people with the TT genotype (MTHFR C677T polymorphism) compared to levels detected in individuals with CC or CT genotype (Li et al 2018).…”

Section: Introductionmentioning

confidence: 99%

Occurrence of MTHFR C677T gene polymorphism and its association with atherogenic indices in Mexican women from San Luis Potosi, a preliminary study

Fernández-Macías

Ochoa-Martínez

Pérez-López

et al. 2023

Preprint

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Some genetic variants (polymorphisms) of the methylenetetrahydrofolate reductase (MTHFR) enzyme are considered a susceptibility factor in the development of cardiovascular diseases (CVDs). Therefore, this study aimed to investigate the relationship between MTHFR C677T polymorphism and levels of well-recognized atherogenic indices in a female population from San Luis Potosi, Mexico. A total of 340 women participated in the study, and MTHFR C677T genotypification was assessed using a RT-PCR assay. Also, Framingham risk score (FRS), Castelli risk index (CRI), and atherogenic index of plasma (AIP) were estimated. The allelic frequency detected was 0.43 for the MTHFR 677T-allele in the enrolled women. Besides, the mean value of AIP was significantly higher (p<0.05) for individuals with the mutant genotype (TT; 0.29 ± 0.20) contrasted to AIP values detected in people with the wild-type genotype (CC; 0.15 ± 0.20) and heterozygous genotype (CT; 0.16 ± 0.20). Similar findings were observed for CRI through MTHFR C677T genotypes (4.40 ± 1.80; 3.90 ± 1.30; and 3.60 ± 0.90; for CC, CT, and TT, respectively). No significant changes were detected for FRS values across MTHFR C677T genotypes. Lastly, significant statistical associations were identified between the TT genotype and the AIP values (odds ratio: 2.15; 95% CI: 1.95-4.95; p= 0.01). No significant associations were detected between MTHFR C677T genotypes and FRS and CRI indices values. The results found in this research agree with data that support an increased CVDs risk in MTHFR 677T-allele carriers in the human population, as AIP is considered a reliable CVDs risk biomarker.

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Correlations between plasma homocysteine and MTHFR gene polymorphism and white matter lesions

Cited by 10 publications

References 30 publications

Predicting the severity of white matter lesions among patients with cerebrovascular risk factors based on retinal images and clinical laboratory data: a deep learning study

Predicting the severity of white matter lesions among patients with cerebrovascular risk factors based on retinal images and clinical laboratory data: a deep learning study

Effect of Methylenetetrahydrofolate Reductase (MTHFR) gene mutations and oxidative stress in silent brain infarction

Occurrence of MTHFR C677T gene polymorphism and its association with atherogenic indices in Mexican women from San Luis Potosi, a preliminary study

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