Article
Genetics & Heredity
Jochen Weile, Nishka Kishore, Song Sun, Ranim Maaieh, Marta Verby, Roujia Li, Iosifina Fotiadou, Julia Kitaygorodsky, Yingzhou Wu, Alexander Holenstein, Celine Buerer, Linnea Blomgren, Shan Yang, Robert Nussbaum, Rima Rozen, David Watkins, Marinella Gebbia, Viktor Kozich, Michael Garton, D. Sean Froese, Frederick P. Roth
Summary: Most rare clinical missense variants, including the MTHFR variant impact, cannot be easily classified, as variant effects in MTHFR deficiency depend on environmental factors. The MTHFR atlas scores can differentiate pathogenic from benign variants and correlate with disease onset age in severe MTHFR deficiency. The atlas provides insights on structure-function relationships and the impact of genetic background on missense variations.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Malgorzata Wrzosek, Klaudia Slusarczyk
Summary: This study examined the influence of the MTHFR C677T variant on BMI and its role as a risk factor for obesity. The results showed that the MTHFR 677TT genotype is not directly related to a higher BMI in Polish adults but has a detrimental effect on folate concentrations in individuals with high BMI values.
Article
Geriatrics & Gerontology
C. Y. T. Kwok, Y. K. P. Poon, P. Chook, D. S. Guo, C. Q. Lin, Y. H. Yin, D. S. Celermajer, K. S. Woo
Summary: This study in China investigated the impact of high homocysteine levels and PM2.5 air pollution on atherosclerosis. The results showed that high homocysteine levels were associated with increased carotid intima-media thickness in areas with high PM2.5 pollution. This finding has important implications for atherosclerosis prevention strategies in China.
JOURNAL OF NUTRITION HEALTH & AGING
(2023)
Article
Oncology
Jiahui Shen, Yanhui Jiang, Fengzhi Wu, Hui Chen, Qiujing Wu, Xiaoxiao Zang, Le Chen, Yong Chen, Qiwen Yuan
Summary: This study found that MTHFR C677T polymorphism was associated with UF occurrence for the first time, implying that it may increase the risk of forming UF in women of gestational age. Factors such as BMI, gravidity, and parity were not associated with UF size and number, as well as the MTHFR C677T polymorphism, while older maternal age was associated with UF incidence, especially multiple UF.
FRONTIERS IN ONCOLOGY
(2021)
Article
Medicine, General & Internal
Qi Zhang, Jinran Lin, Zhenghua Zhang, Ling Han, Qiong Huang, Jie Zhu, Bing Wang, Xu Fang, Zhizhong Zheng, Nikhil Yawalkar, Jun Liang, Kexiang Yan
Summary: This study investigated the effect of MTHFR gene polymorphism and folic acid supplementation on serum homocysteine levels in psoriatic patients. The results showed that individuals with the TT genotype of MTHFR rs1801133 had higher serum homocysteine levels and better treatment response. Sex and genotype were significantly associated with serum homocysteine levels. Folic acid supplementation only decreased homocysteine levels in male patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Song Leng, Ai Zhao, Jian Zhang, Wei Wu, Qian Wang, Shan Wu, Li Chen, Qiang Zeng
Summary: The study revealed the interactive effects between MTHFR C677T gene polymorphism and dietary patterns on the risk of Hhcy among the Chinese population. Both the snack and high-meat dietary patterns were associated with increased risk of Hhcy, especially in individuals carrying the MTHFR 677TT genotype.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Behavioral Sciences
Lei Chen, Chunhua Wu, Zhaoying Dong, Shanshan Cao, Ning Ren, Xiaoyan Yan
Summary: This study investigated the association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with small vessel disease (SVD) risk. The findings revealed that SVD patients had elevated plasma total homocysteine (tHcy) levels and decreased folate levels. Significant differences were observed in the rs1801133 (C677T) gene polymorphism, with higher tHcy levels in individuals carrying the TT allele. The rs1801131 (A1298C) polymorphism was not associated with tHcy levels or SVD risk. Therefore, elevated plasma tHcy levels are closely associated with the development of SVD, while MTHFR gene polymorphisms are not a risk factor for SVD.
BRAIN AND BEHAVIOR
(2023)
Article
Biochemistry & Molecular Biology
Xue Wu, Kai Liu, Xinke Zhao, Xiaowei Zhang, Huan Guo, Hugang Jiang, Juan Chang, Xinfang Lv, Xiang Gao, Xiaodong Zhi, Chunzhen Ren, Qilin Chen, Yufang Liang, Yingdong Li
Summary: This study evaluated the relationship between polymorphisms in the MTHFR gene and CHD in the Gansu region of China. The findings suggest that the TT genotype of the MTHFR C677T locus is closely associated with an increased risk of CHD.
DNA AND CELL BIOLOGY
(2022)
Article
Medicine, General & Internal
Jie Zhu, Zhicheng Wang, Lu Tao, Ling Han, Qiong Huang, Xu Fang, Ke Yang, Guiqin Huang, Zhizhong Zheng, Nikhil Yawalkar, Zhenghua Zhang, Kexiang Yan
Summary: This study provides evidence for an association between MTHFR polymorphism and the risk of PsA, as well as the efficacy and hepatotoxicity of low-dose MTX in the Chinese population.
FRONTIERS IN MEDICINE
(2022)
Article
Nutrition & Dietetics
Alisa D. Kjaergaard, Yanxin Wu, Wai-Kit Ming, Zillian Wang, Mathias N. Kjaergaard, Christina Ellervik
Summary: Elevated homocysteine concentrations in European women are associated with fertility, pregnancy loss, and offspring birthweight, while genetic variants related to homocysteine do not show significant associations with these outcomes in different consortia.
EUROPEAN JOURNAL OF CLINICAL NUTRITION
(2022)
Article
Endocrinology & Metabolism
Jun Ying, Jie Zhang, Piyu Li, Lu Liu, Yan Li, Winnie W. Y. Lau, Qiao Chu, Benqing Wu, Xiaonan Wang, Hui Zhang
Summary: This study investigates the relationship between folic acid supplementation and the recovery rate of gestational diabetes mellitus (GDM) in women with methylenetetrahydrofolate (MTHFR) 677 TT genotypes. The results suggest that high-dose folic acid supplementation in mid-late pregnancy is associated with faster GDM relief in patients with the MTHFR 677 TT genotype compared to the standard dose.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Sihle E. Mabhida, Jyoti R. Sharma, Teke Apalata, Charity Masilela, Sibusiso Nomatshila, Lawrence Mabasa, Hannah Fokkens, Mongi Benjeddou, Babu Muhamed, Samukelisiwe Shabalala, Rabia Johnson
Summary: The study found a lack of association between MTHFR (rs1801133) and the risk of HTN in an indigenous South African population, but identified an interaction between rs1801133, age, and gender.
FRONTIERS IN GENETICS
(2022)
Article
Neurosciences
Anca Elena Gogu, Dragos Catalin Jianu, Victor Dumitrascu, Horia Ples, Alina Zorina Stroe, Daniel Docu Axelerad, Any Docu Axelerad
Summary: CVST is a severe neurological emergency with variable clinical presentation, onset, risk factors, and outcome. Genetic polymorphisms of the MTHFR gene are associated with CVST, along with other factors such as local infections, general infections, obstetric causes, and head injury. The study found a significant correlation between MTHFR polymorphisms and higher cholesterol levels, low-density lipoprotein cholesterol, and homocysteine levels. High-sensitive C-reactive protein levels and hyperhomocysteinemia were also identified as potential prognostic factors in CVST.
Article
Nutrition & Dietetics
Keiji Kuroda, Takashi Horikawa, Yoko Gekka, Azusa Moriyama, Kazuki Nakao, Hiroyasu Juen, Satoru Takamizawa, Yuko Ojiro, Koji Nakagawa, Rikikazu Sugiyama
Summary: This study found that the effectiveness of periconceptional folic acid supplementation for decreasing NTDs risk varies depending on MTHFR genotypes. However, multivitamin supplementation containing folic acid and vitamin D can effectively control folate and homocysteine levels, reducing the risk of NTDs in all women.
Review
Genetics & Heredity
Sihle E. Mabhida, Babu Muhamed, Jyoti R. Sharma, Teke Apalata, Sibusiso Nomatshila, Lawrence Mabasa, Mongi Benjeddou, Charity Masilela, Khanyisani Ziqubu, Samukelisiwe Shabalala, Rabia Johnson
Summary: This review examines the genetic evidence on the association between the MTHFR gene and hypertension risk in African populations, comparing it to global data. The findings suggest a limited amount of literature on the topic in Africa, particularly among the black African population.