scholarly journals Stability of the human sperm DNA methylome to folic acid fortification and short-term supplementation

2016 ◽  
Vol 32 (2) ◽  
pp. 272-283 ◽  
Author(s):  
D. Chan ◽  
S. McGraw ◽  
K. Klein ◽  
L.M. Wallock ◽  
C. Konermann ◽  
...  
2020 ◽  
Vol 26 (6) ◽  
pp. 841-873 ◽  
Author(s):  
Fredrika Åsenius ◽  
Amy F Danson ◽  
Sarah J Marzi

Abstract BACKGROUND Studies in non-human mammals suggest that environmental factors can influence spermatozoal DNA methylation, and some research suggests that spermatozoal DNA methylation is also implicated in conditions such as subfertility and imprinting disorders in the offspring. Together with an increased availability of cost-effective methods of interrogating DNA methylation, this premise has led to an increasing number of studies investigating the DNA methylation landscape of human spermatozoa. However, how the human spermatozoal DNA methylome is influenced by environmental factors is still unclear, as is the role of human spermatozoal DNA methylation in subfertility and in influencing offspring health. OBJECTIVE AND RATIONALE The aim of this systematic review was to critically appraise the quality of the current body of literature on DNA methylation in human spermatozoa, summarize current knowledge and generate recommendations for future research. SEARCH METHODS A comprehensive literature search of the PubMed, Web of Science and Cochrane Library databases was conducted using the search terms ‘semen’ OR ‘sperm’ AND ‘DNA methylation’. Publications from 1 January 2003 to 2 March 2020 that studied human sperm and were written in English were included. Studies that used sperm DNA methylation to develop methodologies or forensically identify semen were excluded, as were reviews, commentaries, meta-analyses or editorial texts. The Grading of Recommendations, Assessment, Development and Evaluations (GRADE) criteria were used to objectively evaluate quality of evidence in each included publication. OUTCOMES The search identified 446 records, of which 135 were included in the systematic review. These 135 studies were divided into three groups according to area of research; 56 studies investigated the influence of spermatozoal DNA methylation on male fertility and abnormal semen parameters, 20 studies investigated spermatozoal DNA methylation in pregnancy outcomes including offspring health and 59 studies assessed the influence of environmental factors on spermatozoal DNA methylation. Findings from studies that scored as ‘high’ and ‘moderate’ quality of evidence according to GRADE criteria were summarized. We found that male subfertility and abnormal semen parameters, in particular oligozoospermia, appear to be associated with abnormal spermatozoal DNA methylation of imprinted regions. However, no specific DNA methylation signature of either subfertility or abnormal semen parameters has been convincingly replicated in genome-scale, unbiased analyses. Furthermore, although findings require independent replication, current evidence suggests that the spermatozoal DNA methylome is influenced by cigarette smoking, advanced age and environmental pollutants. Importantly however, from a clinical point of view, there is no convincing evidence that changes in spermatozoal DNA methylation influence pregnancy outcomes or offspring health. WIDER IMPLICATIONS Although it appears that the human sperm DNA methylome can be influenced by certain environmental and physiological traits, no findings have been robustly replicated between studies. We have generated a set of recommendations that would enhance the reliability and robustness of findings of future analyses of the human sperm methylome. Such studies will likely require multicentre collaborations to reach appropriate sample sizes, and should incorporate phenotype data in more complex statistical models.


2019 ◽  
Author(s):  
Abhay Sharma

AbstractRecent evidence surprisingly suggests existence of germline mediated epigenetic inheritance in diverse species including mammals. The evolutionary and health implications as well as the mechanistic plausibility of epigenetic inheritance are subjects of immense current interest and controversy, with integrative analysis expected to provide valuable insights. Here, an unbiased gene set enrichment analysis of existing multi-omics data is presented that readily supports a role of sperm DNA methylome in evolution and disease, as also in developmental mechanisms. In mice, differentially methylated sperm genes in cold induced inheritance specifically overrepresent genes associated with cold adaptation. Similarly, in humans, differentially methylated sperm genes associate with disease and adaptation in general, with specific disease association supported by prior evidence. Further, the sperm genes, like disease and adaptation genes, overrepresent genes known to exhibit higher mutability, loss-of-function intolerance, and haploinsufficiency. Finally, both mouse and human sperm genes show enrichment for genes that retain sperm methylation during development and are developmentally expressed. Together, the present analysis provides one-stop evidence to suggest that sperm DNA methylome acts as a melting pot of gene-environment interaction, inheritance, evolution, and health and disease.


2019 ◽  
Vol 127 (8) ◽  
pp. 087002 ◽  
Author(s):  
Donovan Chan ◽  
Xiaojian Shao ◽  
Marie-Charlotte Dumargne ◽  
Mahmoud Aarabi ◽  
Marie-Michelle Simon ◽  
...  

2004 ◽  
Author(s):  
Linda Longerich ◽  
Roy West ◽  
Ed Randell ◽  
Marian Crowley ◽  
Shiliang Liu ◽  
...  

2020 ◽  
Vol 16 (4) ◽  
pp. 543-553
Author(s):  
Luciana Y. Tomita ◽  
Andréia C. da Costa ◽  
Solange Andreoni ◽  
Luiza K.M. Oyafuso ◽  
Vânia D’Almeida ◽  
...  

Background: Folic acid fortification program has been established to prevent tube defects. However, concern has been raised among patients using anti-folate drug, i.e. psoriatic patients, a common, chronic, autoimmune inflammatory skin disease associated with obesity and smoking. Objective: To investigate dietary and circulating folate, vitamin B12 (B12) and homocysteine (hcy) in psoriatic subjects exposed to the national mandatory folic acid fortification program. Methods: Cross-sectional study using the Food Frequency Questionnaire, plasma folate, B12, hcy and psoriasis severity using the Psoriasis Area and Severity Index score. Median, interquartile ranges (IQRs) and linear regression models were conducted to investigate factors associated with plasma folate, B12 and hcy. Results: 82 (73%) mild psoriasis, 18 (16%) moderate and 12 (11%) severe psoriasis. 58% female, 61% non-white, 31% former smokers, and 20% current smokers. Median (IQRs) were 51 (40, 60) years. Only 32% reached the Estimated Average Requirement of folate intake. Folate and B12 deficiencies were observed in 9% and 6% of the blood sample respectively, but hyperhomocysteinaemia in 21%. Severity of psoriasis was negatively correlated with folate and B12 concentrations. In a multiple linear regression model, folate intake contributed positively to 14% of serum folate, and negative predictors were psoriasis severity, smoking habits and saturated fatty acid explaining 29% of circulating folate. Conclusion: Only one third reached dietary intake of folate, but deficiencies of folate and B12 were low. Psoriasis severity was negatively correlated with circulating folate and B12. Stopping smoking and a folate rich diet may be important targets for managing psoriasis.


2012 ◽  
Vol 97 (1) ◽  
pp. 39-45.e2 ◽  
Author(s):  
Conrado Avendaño ◽  
Ariela Mata ◽  
César A. Sanchez Sarmiento ◽  
Gustavo F. Doncel

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