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
Food Science & Technology
Yan Luan, Daniel Leclerc, Marta Cosin-Tomas, Olga V. Malysheva, Brandi Wasek, Teodoro Bottiglieri, Marie A. Caudill, Rima Rozen
Summary: High folic acid intake during pregnancy can lead to placental metabolic and gene expression changes, particularly in angiogenesis, which may contribute to abnormal behavior in pups. These results are relevant for determining a safe upper limit for folate intake during pregnancy.
MOLECULAR NUTRITION & FOOD RESEARCH
(2021)
Article
Genetics & Heredity
Mahla Ghorbani, Marjan Azghandi, Reza Khayami, Javad Baharara, Mohammad Amin Kerachian
Summary: This study found a significant association between the homozygote genotype of MTHFR rs1801133 polymorphism and an increased risk of CRC in the Iranian population. However, there was no significant difference in the levels of folate and Vit B-12 between the case and control groups. Additionally, higher risk was observed in 677TT and 677TT + C677T genotypes of MTHFR compared to 677CC carriers among CRC patients.
BMC MEDICAL GENOMICS
(2021)
Review
Biotechnology & Applied Microbiology
Carla Talita Azevedo Ginani, Jefferson Romaryo Duarte da Luz, Kleyton Santos de Medeiros, Ayane Cristine Alves Sarmento, Fabio Coppede, Maria das Gracas Almeida
Summary: This systematic review and meta-analysis found that the MTHFR C677T polymorphism is associated with maternal risk for Down syndrome (DS), while the A1298C polymorphism is not. The association is more significant in the Asian population and is not observed in Europeans. Further studies are needed to explain these differences.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
(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)
Review
Biochemistry & Molecular Biology
Lyazzat Kaldygulova, Talshyn Ukybassova, Gulzhanat Aimagambetova, Andrey Gaiday, Akylbek Tussupkaliyev
Summary: The rationale and importance of folic acid supplementation during pregnancy for preventing fetal congenital defects are widely accepted. Adequate folate levels can reduce the risk of spontaneous abortions and support normal placental blood flow, promoting appropriate fetal growth. Additionally, there is emerging evidence that long-term folic acid supplementation can effectively prevent preeclampsia, a complication unique to humans during pregnancy that contributes to worldwide maternal and perinatal mortality. Folate supplementation helps to decrease elevated levels of homocysteine, which is associated with the risk of preeclampsia.
Article
Biochemistry & Molecular Biology
He Sun, Kai Song, Yang Zhou, Ji-Fei Ding, Bin Tu, Jing-Jing Yang, Ji-Ming Sha, Jian-Yuan Zhao, Ye Zhang, Hui Tao
Summary: This study reveals that the repression of MTHFR due to aberrant DNMT3A elevation and subsequent MTHFR promoter hypermethylation is likely a crucial epigenetic feature of diabetes cardiac fibrosis. Folate supplementation can protect against diabetes cardiac fibrosis.
FREE RADICAL BIOLOGY AND MEDICINE
(2022)
Article
Oncology
Suying Lu, Xiaoqin Zhu, Wei Li, Huimou Chen, Dalei Zhou, Zijun Zhen, Feifei Sun, Junting Huang, Jia Zhu, Juan Wang, Yizhuo Zhang, Xiaofei Sun
Summary: This retrospective study found that pediatric NHL patients with the C677T genotype were more susceptible to oral mucositis, leucopenia, and thrombocytopenia, while those with the A1298C genotype had a decreased risk of vomiting but an increased risk of anemia and leucopenia.
FRONTIERS IN ONCOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Derrick A. Bennett, Sarah Parish, Iona Y. Millwood, Yu Guo, Yiping Chen, Iain Turnbull, Ling Yang, Jun Lv, Canqing Yu, George Davey Smith, Yongjun Wang, Yilong Wang, Richard Peto, Rory Collins, Robin G. Walters, Liming Li, Zhengming Chen, Robert Clarke
Summary: In Chinese adults, the MTHFR C677T polymorphism is associated with an increased risk of stroke, highlighting the importance of further trials involving folic acid and mandatory folic acid fortification programs for stroke prevention in low-folate populations.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2023)
Review
Genetics & Heredity
Melissa Roufael, Tania Bitar, Yonna Sacre, Christian Andres, Walid Hleihel
Summary: Autism Spectrum Disorder (ASD) has seen a rapid increase in incidence and disturbances in folate or methionine metabolism have been found in individuals with ASD. Changes in metabolite concentrations associated with this cycle could be potential biomarkers and therapeutic targets for ASD. High levels of homocysteine and low levels of vitamins B12 and folate, influenced by poor diet and genetic predispositions, have been linked to ASD. Nutritional supplements have shown potential benefits for treating ASD, but more research is needed.
Article
Biochemistry & Molecular Biology
H. Aslanov, R. Agaev, B. Bayramov, A. Hadizade, N. Alakbarova, S. Abdulrahimli, V Yagublu
Summary: In a population-based case-control study in Azerbaijan, we investigated the association between methylenetetrahydrofolate reductase gene C677T polymorphisms and colorectal cancer. Genomic DNA was extracted from 155 colorectal cancer patients and 155 healthy individuals. The CC, CT, and TT genotypes of MTHFR (C677T) were examined using PCR-RFLP. Heterozygote CT and homozygous mutant TT genotypes were more prevalent in colorectal cancer patients compared to controls. However, no significant associations were found between MTHFR genotype and allele frequency and colorectal cancer risk. These results suggest that MTHFR C677T polymorphism may not be associated with colorectal cancer risk in the Azerbaijani population, but further validation is needed in larger cohort studies.
GENETICS AND MOLECULAR RESEARCH
(2023)
Review
Genetics & Heredity
Igor Petrone, Paula Sabbo Bernardo, Everton Cruz dos Santos, Eliana Abdelhay
Summary: Folate, a crucial vitamin, is involved in various biochemical processes; MTHFR polymorphisms result in reduced enzyme activity, affecting DNA methylation and synthesis levels; The relationship between MTHFR polymorphisms and increased risks of diseases such as breast cancer, gliomas, and gastric cancer is controversial in the literature.
Article
Multidisciplinary Sciences
Cynthia Al Hageh, Eman Alefishat, Michella Ghassibe-Sabbagh, Daniel E. Platt, Hamdan Hamdan, Raya Tcheroyan, Elie Chammas, Siobhan O'Sullivan, Antoine Abchee, Binyan Wang, Xiping Xu, Moni Nader, Pierre Zalloua
Summary: This study aimed to investigate the association between high homocysteine levels and hypertension, stroke, and antihypertensive medication usage in patients with different MTHFR C677T genotypes. The TT mutant genotype and the T mutant allele of MTHFR were more prevalent in hyperhomocysteinemia and hypertensive patients. Homocysteine levels were significantly higher in hypertensive patients, especially among those on diuretics. Homocysteine levels also significantly correlated with stroke risk in patients with the T alleles.
Article
Environmental Sciences
Juan Carlos Fernandez-Macias, Angeles Catalina Ochoa-Martinez, Anette Aylin Perez-Lopez, Amairani Lizbeth Perez-Lopez, Ignacio Neri-Maldonado, Iris Gabriela Pina-Lopez, Ivan Nelinho Perez-Maldonado
Summary: Cardiovascular diseases (CVDs) are the leading cause of morbidity and mortality worldwide. This study found an interaction between environmental (PAHs exposure) and genetic (MTHFR C677T polymorphism) factors on cardiovascular risk markers.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2022)
Article
Endocrinology & Metabolism
Yangyang Wan, Wenjing Liu, Bo Xu, Xiaohua Jiang, Juan Hua
Summary: This study found that paternal MTHFR C677T polymorphism is not associated with embryo quality, pregnancy, or neonatal outcomes in ICSI treatment.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Psychology, Clinical
J. E. J. Buckman, Z. D. Cohen, C. O'Driscoll, E. Fried, R. Saunders, G. Ambler, R. J. DeRubeis, S. Gilbody, S. D. Hollon, T. Kendrick, E. Watkins, T. C. Eley, A. J. Peel, C. Rayner, D. Kessler, N. Wiles, G. Lewis, S. Pilling
Summary: This study developed models based on pre-treatment data to predict post-treatment outcomes for depressed adults. The models showed some effectiveness in predicting the severity of depressive symptoms post-treatment, but a significant amount of variance in prognosis remained unexplained. To improve predictive accuracy and clinical utility, it may be necessary to consider a broader range of variables.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Psychology, Clinical
Richard Pender, Pasco Fearon, Beate St Pourcain, Jon Heron, Will Mandy
Summary: Autistic individuals show diverse trajectories of autistic traits over time, with some experiencing an intensification of difficulties during adolescence accompanied by mood, anxiety, conduct, and attention problems, while others show a decrease in social difficulties during adolescence. This study investigated the nature and clinical significance of autism trait chronogeneity in a large, general population sample.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Psychology, Clinical
Jonathan P. Rogers, Thomas A. Pollak, Nazifa Begum, Anna Griffin, Ben Carter, Megan Pritchard, Matthew Broadbent, Anna Kolliakou, Jessie Ke, Robert Stewart, Rashmi Patel, Adrian Bomford, Ali Amad, Michael S. Zandi, Glyn Lewis, Timothy R. Nicholson, Anthony S. David
Summary: Catatonia occurred in approximately 1 per 10,000 person-years in this study. Patients with catatonia had longer duration of hospitalisation, but there was no increase in mortality after adjustment.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Public, Environmental & Occupational Health
Nancy Krieger, Jarvis T. Chen, Christian Testa, Ana Diez Roux, Kate Tilling, Sarah Watkins, Andrew J. Simpkin, Matthew Suderman, George Davey Smith, Immaculata De Vivo, Pamela D. Waterman, Caroline Relton
Summary: Motivated by a literature review, this study reports on the treatment of age in studies on social exposures and accelerated aging using epigenetic clocks. Among 50 reviewed articles, the majority used an incorrect method of analysis, while only 42% used correct methods. The study provides simulation and empirical analyses to illustrate the biases introduced by the incorrect method and recommends best practices.
AMERICAN JOURNAL OF EPIDEMIOLOGY
(2023)
Article
Medicine, General & Internal
Nikos Papadimitriou, Caroline J. Bull, Mazda Jenab, David J. Hughes, Joshua A. Bell, Eleanor Sanderson, Nicholas J. Timpson, George Davey Smith, Demetrius Albanes, Peter T. Campbell, Sebastien Kury, Loic Le Marchand, Cornelia M. Ulrich, Kala Visvanathan, Jane C. Figueiredo, Polly A. Newcomb, Rish K. Pai, Ulrike Peters, Kostas K. Tsilidis, Jolanda M. A. Boer, Emma E. Vincent, Daniela Mariosa, Marc J. Gunter, Tom G. Richardson, Neil Murphy
Summary: This study suggests that the positive association between childhood body size and colorectal cancer risk is likely a result of retaining a large body size into adulthood.
Article
Genetics & Heredity
Fergus Hamilton, Alexander J. Mentzer, Tom Parks, J. Kenneth Baillie, George Davey Smith, Peter Ghazal, Nicholas J. Timpson
Summary: ERAP2 gene variation is associated with respiratory infection and autoimmune diseases. The T allele of rs2549794 is found to be deleterious during the Black Death epidemic and is also associated with decreased ERAP2 expression and protein levels. The study suggests a balancing selection at this locus driven by autoimmune and infectious diseases.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Medicine, General & Internal
Robyn E. Wootton, Rebecca B. Lawn, Maria C. Magnus, Jorien L. Treur, Elizabeth C. Corfield, Pal R. Njolstad, Ole A. Andreassen, Deborah A. Lawlor, Marcus R. Munafo, Siri E. Haberg, George Davey Smith, Ted Reichborn-Kjennerud, Per Magnus, Alexandra Havdahl
Summary: Advice to improve fertility includes reducing alcohol and caffeine consumption, achieving a healthy weight, and quitting smoking. However, observational evidence used to inform these recommendations is often biased by confounding factors.
Letter
Endocrinology & Metabolism
Jie Zheng, Tom R. Gaunt, Min Xu, George Davey Smith, Yufang Bi
Article
Psychology, Developmental
Amy Shakeshaft, Jon Heron, Rachel Blakey, Lucy Riglin, George Davey Smith, Evie Stergiakouli, Kate Tilling, Anita Thapar
Summary: This study used data from a population cohort to examine the correlations between ADHD and autistic traits across development. The results showed distinct patterns of co-development of ADHD and autism, and these patterns were associated with sociodemographic, psychopathology, cognition, and social functioning factors. Furthermore, genetic signatures as indexed by polygenic scores differed among different trajectory classes.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2023)
Article
Public, Environmental & Occupational Health
Karri Silventoinen, Hannu Lahtinen, George Davey Smith, Tim T. Morris, Pekka Martikainen
Summary: This study used a polygenic score for height to reveal the associations between height, socioeconomic position, and coronary heart disease incidence. The results showed clear gradients for residual height in relation to education, social class, and income, with a stronger association for residual height. These findings support the role of material and social living conditions in childhood as contributing factors to the association of height with both socioeconomic position and CHD risk.
JOURNAL OF EPIDEMIOLOGY AND COMMUNITY HEALTH
(2023)
Article
Psychiatry
Ragna Bugge Askeland, Laurie J. Hannigan, Kevin S. O'Connell, Elizabeth C. Corfield, Oleksandr Frei, Anita Thapar, George Davey Smith, Ted Reichborn-Kjennerud, Ole A. Andreassen, Helga Ask, Alexandra Havdahl
Summary: Knowledge on how genetic risk for bipolar disorder manifests in developmental, emotional or behavioral traits during childhood is lacking. This issue is important to address to inform early detection and intervention efforts. Our study investigated the association between polygenic risk for bipolar disorder and developmental outcomes in children, and found robust evidence for an association with conduct difficulties and oppositional defiant difficulties at 8 years. Other associations were estimated within a range close to zero, except for negative associations with activity levels and benevolence at age 5 and positive associations with motor difficulties, inattention, and hyperactivity at age 3 and 8. These findings suggest that genetic risk for bipolar disorder manifests as disruptive behaviors in childhood.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Rheumatology
Jie Zheng, Eleanor Wheeler, Maik Pietzner, Till F. M. Andlauer, Michelle S. Yau, April E. Hartley, Ben Michael Brumpton, Humaira Rasheed, John P. Kemp, Monika Frysz, Jamie Robinson, Sjur Reppe, Vid Prijatelj, Kaare M. Gautvik, Louise Falk, Winfried Maerz, Ingrid Gergei, Patricia A. Peyser, Maryam Kavousi, Paul S. de Vries, Clint L. Miller, Maxime Bos, Sander W. van Der Laan, Rajeev Malhotra, Markus Herrmann, Hubert Scharnagl, Marcus Kleber, George Dedoussis, Eleftheria Zeggini, Maria Nethander, Claes Ohlsson, Mattias Lorentzon, Nick Wareham, Claudia Langenberg, Michael V. Holmes, George Davey Smith, Jonathan H. Tobias
Summary: This study suggests that lowering sclerostin may increase the risk of hypertension, type 2 diabetes mellitus, myocardial infarction, and the extent of coronary artery calcification. Therefore, strategies should be implemented to mitigate potential adverse effects of romosozumab treatment on atherosclerosis and its risk factors.
ARTHRITIS & RHEUMATOLOGY
(2023)
Article
Medicine, General & Internal
Philip C. Haycock, Maria Carolina Borges, Kimberley Burrows, Rozenn N. Lemaitre, Stephen Burgess, Nikhil K. Khankari, Konstantinos K. Tsilidis, Tom R. Gaunt, Gibran Hemani, Jie Zheng, Therese Truong, Brenda M. Birmann, Tracy OMara, Amanda B. Spurdle, Mark M. Iles, Matthew H. Law, Susan L. Slager, Fatemeh Saberi Hosnijeh, Daniela Mariosa, Michelle Cotterchio, James R. Cerhan, Ulrike Peters, Stefan Enroth, Puya Gharahkhani, Loic Le Marchand, Ann C. Williams, Robert C. Block, Christopher I. Amos, Rayjean J. Hung, Wei Zheng, Marc J. Gunter, George Davey Smith, Caroline Relton, Richard M. Martin
Summary: Using Mendelian randomization, this study found that polyunsaturated fatty acids (PUFAs) may be causally related to colorectal cancer and esophageal squamous cell carcinoma, but they also increase the risk of inflammatory bowel disease.
Article
Medicine, General & Internal
Madeleine L. Smith, Caroline J. Bull, Michael V. Holmes, George Davey Smith, Eleanor Sanderson, Emma L. Anderson, Joshua A. Bell
Summary: By using a reverse Mendelian randomization (MR) framework on large-scale metabolomics data from the UK Biobank, it was found that genetic susceptibility to type 2 diabetes (T2D) and coronary artery disease (CAD) has distinct effects on circulating metabolites, providing insights into prevention strategies for these commonly co-occurring diseases.
Article
Cardiac & Cardiovascular Systems
Mia O. Johansen, Shoaib Afzal, Signe Vedel-Krogh, Sune F. Nielsen, George Davey Smith, Borge G. Nordestgaard
Summary: This study found that higher triglyceride metabolism is associated with increased risk of all-cause, cardiovascular, cancer, and other mortality, independent of elevated triglyceride-rich lipoproteins and body mass index. These findings provide important evidence on the relationship between triglyceride metabolism and mortality.
EUROPEAN HEART JOURNAL
(2023)