ORCID Profile
0000-0001-5914-6862
Current Organisations
Harvard University
,
Universidad Nacional de Educación a Distancia
,
Universitat Rovira i Virgili
,
CIBERObn
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Publisher: Oxford University Press (OUP)
Date: 08-09-2021
Abstract: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, but a majority (60–70%) remain without a clear diagnosis and are classified as unexplained. This is likely in large part due to a delay in the field adopting next-generation sequencing (NGS) technologies, and the absence of clear statements from field leaders as to what constitutes a validated cause of human male infertility (the current paper aims to address this). Fortunately, there has been a significant increase in the number of male infertility NGS studies. These have revealed a considerable number of novel gene–disease relationships (GDRs), which each require stringent assessment to validate the strength of genotype–phenotype associations. To definitively assess which of these GDRs are clinically relevant, the International Male Infertility Genomics Consortium (IMIGC) has identified the need for a systematic review and a comprehensive overview of known male infertility genes and an assessment of the evidence for reported GDRs. In 2019, the first standardised clinical validity assessment of monogenic causes of male infertility was published. Here, we provide a comprehensive update of the subsequent 1.5 years, employing the joint expertise of the IMIGC to systematically evaluate all available evidence (as of 1 July 2020) for monogenic causes of isolated or syndromic male infertility, endocrine disorders or reproductive system abnormalities affecting the male sex organs. In addition, we systematically assessed the evidence for all previously reported possible monogenic causes of male infertility, using a framework designed for a more appropriate clinical interpretation of disease genes. We performed a literature search according to the PRISMA guidelines up until 1 July 2020 for publications in English, using search terms related to ‘male infertility’ in combination with the word ‘genetics’ in PubMed. Next, the quality and the extent of all evidence supporting selected genes were assessed using an established and standardised scoring method. We assessed the experimental quality, patient phenotype assessment and functional evidence based on gene expression, mutant in-vitro cell and in-vivo animal model phenotypes. A final score was used to determine the clinical validity of each GDR, across the following five categories: no evidence, limited, moderate, strong or definitive. Variants were also reclassified according to the American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines and were recorded in spreadsheets for each GDR, which are available at imigc.org. The primary outcome of this review was an overview of all known GDRs for monogenic causes of human male infertility and their clinical validity. We identified a total of 120 genes that were moderately, strongly or definitively linked to 104 infertility phenotypes. Our systematic review curates all currently available evidence to reveal the strength of GDRs in male infertility. The existing guidelines for genetic testing in male infertility cases are based on studies published 25 years ago, and an update is far overdue. The identification of 104 high-probability ‘human male infertility genes’ is a 33% increase from the number identified in 2019. The insights generated in the current review will provide the impetus for an update of existing guidelines, will inform novel evidence-based genetic testing strategies used in clinics, and will identify gaps in our knowledge of male infertility genetics. We discuss the relevant international guidelines regarding research related to gene discovery and provide specific recommendations to the field of male infertility. Based on our findings, the IMIGC consortium recommend several updates to the genetic testing standards currently employed in the field of human male infertility, most important being the adoption of exome sequencing, or at least sequencing of the genes validated in this study, and expanding the patient groups for which genetic testing is recommended.
Publisher: MDPI AG
Date: 20-03-2021
Abstract: Infertility affects about 15% of the population and male factors only are responsible for ~25–30% of cases of infertility. Currently, the etiology of suboptimal semen quality is poorly understood, and many environmental and genetic factors, including oxidative stress, have been implicated. Oxidative stress is an imbalance between the production of free radicals, or reactive oxygen species (ROS), and the capacity of the body to counteract their harmful effects through neutralization by antioxidants. The purpose of this review, by employing the joint expertise of international researchers specialized in nutrition and male fertility areas, is to update the knowledge about the reproductive consequences of excessive ROS concentrations and oxidative stress on the semen quality and Assisted Reproduction Techniques (ART) clinical outcomes, to discuss the role of antioxidants in fertility outcomes, and finally to discuss why foods and dietary patterns are more innocuous long term solution for ameliorating oxidative stress and therefore semen quality results and ART fertility outcomes. Since this is a narrative review and not a systematic/meta-analysis, the summarized information in the present study should be considered cautiously.
Publisher: Springer Science and Business Media LLC
Date: 30-12-2020
Publisher: MDPI AG
Date: 14-02-2023
DOI: 10.3390/NU15040955
Abstract: Nuts have formed part of human diets throughout the ages. In recent decades, research has shown they are key foods in dietary patterns associated with lower chronic disease risk. The current state of climate change, however, has introduced an imperative to review the impact of dietary patterns on the environment with a shift to plant-based diets. Nuts emerge as a significant source of protein in plant-based diets and are a minimally processed and sustainable food. Research in this area is evolving to drive better production methods in varying climate conditions. Nevertheless, nut consumption remains an important contributor to human health. The mechanisms of action can be explained in terms of the nutrients they deliver. Studies of nut consumption have linked components such as monounsaturated fatty acids, plant omega-3 fatty acids, antioxidants, and plant sterols to improved lipoprotein profiles, lower blood pressure, and reduced cardiovascular disease risk. Preliminary research also indicates possible beneficial effects of nut consumption on reproductive health. In any case, the ultimate effects of foods on health are the results of multiple interactive factors, so where nuts fit within dietary patterns is a significant consideration for research translation. This has implications for research methodologies, including categorization within food groups and inclusion in Healthy Dietary Indices. The aim of this narrative review is to outline new focal points for investigation that examine the environmental and some novel human health impacts of nut consumption and discuss future directions for research.
Publisher: Springer Science and Business Media LLC
Date: 19-11-2020
Publisher: Springer Science and Business Media LLC
Date: 07-07-2020
DOI: 10.1007/S00439-020-02202-X
Abstract: Identifying the genes causing male infertility is important to increase our biological understanding as well as the diagnostic yield and clinical relevance of genetic testing in this disorder. While significant progress has been made in some areas, mainly in our knowledge of the genes underlying rare qualitative sperm defects, the same cannot be said for the genetics of quantitative sperm defects. Technological advances and approaches in genomics are critical for the process of disease gene identification. In this review we highlight the impact of various technological developments on male infertility gene discovery as well as functional validation, going from the past to the present and the future. In particular, we draw attention to the use of unbiased genomics approaches, the development of increasingly relevant functional assays and the importance of large-scale international collaboration to advance disease gene identification in male infertility.
Location: Spain
No related grants have been discovered for Albert Salas-Huetos.