Article
Biochemistry & Molecular Biology
Zihan Tang, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Yue Sun, Qiongyi Hu, Huihui Chi, Zhuochao Zhou, Jinchao Jia, Jianfen Meng, Mengyan Wang, Fan Wang, Jialin Teng, Chengde Yang, Tingting Liu
Summary: APS is an autoimmune disorder characterized by the presence of antiphospholipid antibodies and thrombotic or obstetric events. This study analyzed thrombophilic gene polymorphisms in aPL(+) patients from the Chinese Han population and found significant differences in the MTHFR C677T genotype and allele distribution compared to healthy controls. Furthermore, patients with at least one T allele were found to have a higher risk of arterial thrombosis. The C677T mutation of MTHFR is a risk factor for arterial thrombosis in Chinese Han patients with APS.
Article
Endocrinology & Metabolism
Masaki Nakano, Yukio Nakamura, Tomohiko Urano, Akiko Miyazaki, Takako Suzuki, Kazuki Watanabe, Jun Takahashi, Masataka Shiraki
Summary: The study found a significant association between circulating homocysteine and MTHFR C677T variant with the prevalence and progression of spinal OA. These factors could serve as potential interventional targets for preventing and improving clinical outcomes of OA.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Genetics & Heredity
Hua Lin, Changxi Liao, Rujing Zhang
Summary: The objective of this study is to analyze the distribution characteristics of MTHFR C677T polymorphism in Chinese females and provide information for reducing birth defects and formulating public health policies. The study collected data from literature published in the last 6 years on MTHFR C677T polymorphism and methylene tetrahydrofolate reductase, and analyzed the distribution of MTHFR C677T alleles in the female population in each region of China. The results showed a significant north-south difference in the distribution of the TT genotype and T allele of the MTHFR C677T, which is consistent with the geographical distribution of pregnancy complications.
FRONTIERS IN GENETICS
(2023)
Review
Medicine, General & Internal
Guang-Xing Tan, Lin Jiang, Gang-Qin Li, Kuan Bai
Summary: This study found an association between MTHFR gene polymorphism and azoospermia, with significant links observed between C677T and A1298C polymorphisms and azoospermia. Caucasian populations had a higher risk than Mongolian populations in the association between MTHFR and azoospermia.
Article
Biology
Mikhlid H. Almutairi, Nouf S. Al-Numair, Narasimha Reddy Parine, Bader O. Almutairi, Abdulwahed F. Alrefaei, Mahmoud Rouabhia, Abdelhabib Semlali
Summary: This study investigated the relationship between the rs1801131 variant in the MTHFR gene and the risk of smoking-related diseases in a Saudi Arabian population. Results showed that carriers of the TG and GG genotypes had a protective effect against smoking-related diseases, independent of other factors. Further research with larger sample sizes and diverse ethnicities is needed to validate these findings.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2021)
Article
Multidisciplinary Sciences
Cameron B. Haas, Yu-Ru Su, Paneen Petersen, Xiaoliang Wang, Stephanie A. Bien, Yi Lin, Demetrius Albanes, Stephanie J. Weinstein, Mark A. Jenkins, Jane C. Figueiredo, Polly A. Newcomb, Graham Casey, Loic Le Marchand, Peter T. Campbell, Victor Moreno, John D. Potter, Lori C. Sakoda, Martha L. Slattery, Andrew T. Chan, Li Li, Graham G. Giles, Roger L. Milne, Stephen B. Gruber, Gad Rennert, Michael O. Woods, Steven J. Gallinger, Sonja Berndt, Richard B. Hayes, Wen-Yi Huang, Alicja Wolk, Emily White, Hongmei Nan, Rami Nassir, Noralane M. Lindor, Juan P. Lewinger, Andre E. Kim, David Conti, W. James Gauderman, Daniel D. Buchanan, Ulrike Peters, Li Hsu
Summary: Observational studies have shown that higher folate consumption is associated with a lower risk of colorectal cancer. This study investigated the interaction between genetic risk factors and folate consumption on colorectal cancer risk. The results suggest that certain genes involved in preventing or repairing DNA damage may interact with folate consumption to alter the risk of colorectal cancer.
SCIENTIFIC REPORTS
(2022)
Review
Genetics & Heredity
Xue-Lun Zou, Tian-Xing Yao, Lu Deng, Lei Chen, Ye Li, Le Zhang
Summary: This meta-analysis confirms the association of MTHFR C677T gene polymorphism with an increased risk of intracerebral hemorrhage (ICH) in Asian and Caucasian populations. However, there is no significant correlation between A1298C polymorphism and the occurrence of ICH.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, General & Internal
Binfeng Wang, Miaomiao Ma, Xiaojun Guo, Yan Yan, Lang Li
Summary: The study evaluated the associations between MTHFR gene polymorphisms and HCC risk through meta-analysis and trial sequential analysis. Different SNP variants showed varying associations with HCC risk across different populations, with MTHFR rs1801133 SNP linked to increased risk in Mongoloid populations, especially Chinese, and MTHFR rs1801131 SNP associated with increased risk in Caucasians while showing decreased risk in Mongoloid and Chinese subgroups, indicating the need for further validation.
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.
Article
Pharmacology & Pharmacy
L-L Huang, J-R Tong, Y. Huang, Y-N Wei, H-F Chen, Y. Chen, J-Y Su, L. Deng
Summary: The present study aimed to analyze the correlation between pregnancy outcomes and methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism, and provide evidence for clinical improvement of adverse pregnancy outcomes. A total of 1,995 pregnant women were selected as study subjects, and underwent MTHFR gene C677T polymorphism detection. The TT type gene mutation at the C677T site of MTHFR gene is closely related to conditions that contribute to a decrease in the number of full-term births and increase the risk of adverse pregnancy outcomes, including GDM, HDP, spontaneous abortion, and fetal abnormalities.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2023)
Article
Oncology
Harmesh Lal, Bhavna Sharma, Vasudha Sambyal, Kamlesh Guleria, Neeti Rajan Singh, Manjit Singh Uppal, Mridu Manjari, Meena Sudan
Summary: This study evaluated the association between MTHFR 677C>T polymorphism and breast cancer in Punjabi population, finding no risk factor in this population. The meta-analysis showed significant association in Asian population, but not in Caucasians.
JOURNAL OF CANCER RESEARCH AND THERAPEUTICS
(2022)
Article
Nutrition & Dietetics
Xiaoting Lu, Rongzhu Huang, Shuyi Li, Aiping Fang, Yuming Chen, Si Chen, Fan Wang, Xinlei Lin, Zhaoyan Liu, Huilian Zhu
Summary: The study found that higher serum betaine levels, mutations in MTHFR G1793A and A1298C genes, as well as their combined effects, are associated with a lower risk of type 2 diabetes.
Article
Environmental Sciences
Chun-Hsin Chen, Po-Yu Chen, Cynthia Yi-An Chen, Chih-Chiang Chiu, Mong-Liang Lu, Ming-Chyi Huang, Yen-Kuang Lin, Yi-Hua Chen
Summary: The study focused on the genetic variants in one-carbon metabolism pathway among patients with schizophrenia and their associations with metabolic abnormalities. Results suggested that MTHFR gene variants might play a role in antipsychotic-induced metabolic abnormalities. Further prospective studies are needed to identify key regions of DNA methylation changes contributing to these abnormalities in schizophrenia patients.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Medicine, Research & Experimental
Wei Zhang, Li Chen, Gaoyang Cao, Fei Wang, Engeng Chen
Summary: This study investigated the relationship between MTHFR gene polymorphism and postoperative thrombosis in 591 patients with colorectal cancer. The results showed no significant correlation between MTHFR gene polymorphism and the risk of postoperative thrombosis. Therefore, detecting MTHFR polymorphism is not necessary for therapeutic purposes, and more focus should be placed on implementing a standardized procedural enforcement system for deep vein thrombosis prevention in patients undergoing pelvic and abdominal surgery.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Maryam Rezaee, Hamed Akbari, Mohammad Amin Momeni-Moghaddam, Fatemeh Moazzen, Sarvenaz Salahi, Reza Jahankhah, Sedigheh Tahmasebi
Summary: The study suggests that the MTHFR C677T variant is associated with an increased risk of breast cancer in Asians. Additionally, the A1298C variant is identified as a risk factor for breast cancer, particularly in the Western Asia population.
BIOCHEMICAL GENETICS
(2021)
