Article
Psychology, Biological
Seon-Kyeong Jang, Luke Evans, Allison Fialkowski, Donna K. Arnett, Allison E. Ashley-Koch, Kathleen C. Barnes, Diane M. Becker, Joshua C. Bis, John Blangero, Eugene R. Bleecker, Meher Preethi Boorgula, Donald W. Bowden, Jennifer A. Brody, Brian E. Cade, Brenda W. Campbell Jenkins, April P. Carson, Sameer Chavan, L. Adrienne Cupples, Brian Custer, Scott M. Damrauer, Sean P. David, Mariza de Andrade, Carla L. Dinardo, Tasha E. Fingerlin, Myriam Fornage, Barry I. Freedman, Melanie E. Garrett, Sina A. Gharib, David C. Glahn, Jeffrey Haessler, Susan R. Heckbert, John E. Hokanson, Lifang Hou, Shih-Jen Hwang, Matthew C. Hyman, Renae Judy, Anne E. Justice, Robert C. Kaplan, Sharon L. R. Kardia, Shannon Kelly, Wonji Kim, Charles Kooperberg, Daniel Levy, Donald M. Lloyd-Jones, Ruth J. F. Loos, Ani W. Manichaikul, Mark T. Gladwin, Lisa Warsinger Martin, Mehdi Nouraie, Olle Melander, Deborah A. Meyers, Courtney G. Montgomery, Kari E. North, Elizabeth C. Oelsner, Nicholette D. Palmer, Marinelle Payton, Anna L. Peljto, Patricia A. Peyser, Michael Preuss, Bruce M. Psaty, Dandi Qiao, Daniel J. Rader, Nicholas Rafaels, Susan Redline, Robert M. Reed, Alexander P. Reiner, Stephen S. Rich, Jerome I. Rotter, David A. Schwartz, Aladdin H. Shadyab, Edwin K. Silverman, Nicholas L. Smith, J. Gustav Smith, Albert V. Smith, Jennifer A. Smith, Weihong Tang, Kent D. Taylor, Marilyn J. Telen, Ramachandran S. Vasan, Victor R. Gordeuk, Zhe Wang, Kerri L. Wiggins, Lisa R. Yanek, Ivana V. Yang, Kendra A. Young, Kristin L. Young, Yingze Zhang, Dajiang J. Liu, Matthew C. Keller, Scott Vrieze
Summary: Rare genetic variants contribute significantly to the heritability of smoking behavior.
NATURE HUMAN BEHAVIOUR
(2022)
Review
Physiology
Zsolt Radak, Albert W. Taylor
Summary: Trainability is the adaptive response to exercise loads, which differs across physiological functions. Different organs and functions may adapt to exercise training differently. This paper focuses on the trainability issues related to muscle and cardiovascular system and provides suggestions on improving performance for non-responders.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Samuel Valentini, Francesco Gandolfi, Mattia Carolo, Davide Dalfovo, Lara Pozza, Alessandro Romanel
Summary: Many studies have found associations between common genetic variants and complex diseases, but the biological mechanisms explaining these associations are largely unknown. Common variants often have small effect sizes, suggesting that interactions among multiple variants may be a key genetic component of complex diseases. Polympact is a web-based resource that allows exploring functional relations among human common variants, characterizing over 18 million variants and identifying potential interactions.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Endocrinology & Metabolism
Alessandro Conforti, Frank Tuettelmann, Carlo Alviggi, Hermann M. Behre, Robert Fischer, Liang Hu, Nikolaos P. Polyzos, Dana Chuderland, Gottumukkala Achyuta Rama Raju, Thomas D'Hooghe, Manuela Simoni, Sesh K. Sunkara, Salvatore Longobardi
Summary: A Delphi consensus was conducted to evaluate the influence of single nucleotide polymorphisms (SNPs) in genes encoding gonadotropin and gonadotropin receptors on clinical ovarian stimulation outcomes following assisted reproductive technology (ART) treatment. The results showed that some gene variants are associated with ovarian stimulation outcomes, but further research is needed.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Gastroenterology & Hepatology
Guido A. Baselli, Oveis Jamialahmadi, Serena Pelusi, Ester Ciociola, Francesco Malvestiti, Marco Saracino, Luigi Santoro, Alessandro Cherubini, Paola Dongiovanni, Marco Maggioni, Cristiana Bianco, Federica Tavaglione, Annalisa Cespiati, Rosellina M. Mancina, Roberta D'Ambrosio, Valentina Vaira, Salvatore Petta, Luca Miele, Umberto Vespasiani-Gentilucci, Alessandro Federico, Jussi Pihlajamaki, Elisabetta Bugianesi, Anna L. Fracanzani, Helen L. Reeves, Giorgio Soardo, Daniele Prati, Stefano Romeo, Luca VC. Valenti
Summary: This study investigated the impact of rare variants on severe non-alcoholic fatty liver disease, and found that loss-of-function variants in the ATG7 gene promote the progression of NAFLD.
JOURNAL OF HEPATOLOGY
(2022)
Review
Immunology
Matteo Vecellio, Vivien Xanath Hake, Connor Davidson, Maria Cristina Carena, B. Paul Wordsworth, Carlo Selmi
Summary: Psoriatic arthritis (PsA) is a chronic inflammatory disease associated with psoriasis, with genetic predisposition playing a key role in its development. The IL-23/IL-17 axis is highlighted as important in the immunopathogenesis of PsA.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Biology
Johara Al-Mutawa
Summary: This study investigated the effects of -656 T > G and 1349 T > G single nucleotide polymorphisms (SNPs) in the APE1 gene on polycystic ovarian syndrome (PCOS) in Saudi women. The results showed that the 1349 T > G SNP was associated with PCOS, while the -656 SNP had no favorable effect on the APE1 gene.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2023)
Article
Immunology
Christina-Maria Flessa, Evangelia Zampeli, Maria-Eleftheria Evangelopoulos, Vasilis Natsis, Iris L. A. Bodewes, Erika Huijser, Marjan A. Versnel, Haralampos M. Moutsopoulos, Clio P. Mavragani
Summary: This study found that the TT genotype of the rs9514828 SNP in the BAFF gene reduces the likelihood of fatigue development in primary Sjogren's Syndrome patients. Further research is needed to validate these findings.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Endocrinology & Metabolism
Rieneke van Der Meer, Siham A. Mohamed, Valerie M. Monpellier, Ronald S. L. Liem, Eric J. Hazebroek, Paul W. Franks, Timothy M. Frayling, Ignace M. C. Janssen, Mireille J. Serlie
Summary: Limited evidence exists for the role of specific genetic variants in surgical outcomes after bariatric surgery, based on a review of current research on the association between genetic variations and weight loss and metabolic changes post-surgery.
Article
Genetics & Heredity
Mateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Piotr Buda, Edyta Budzynska, Jennifer Castaneda, Tatiana Chilarska, Elzbieta Czyzyk, Anna Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, Dorota Gieruszczak-Bialek, Ewelina Glodek-Brzozowska, Alicja Goszczanska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, Barbara Gurda, Anna Jakubiuk-Tomaszuk, Ewa Jamroz, Magdalena Janeczko, Dominika Jedlinska-Pijanowska, Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, Malgorzata Krajewska-Walasek, Katarzyna Kufel, Anna Kutkowska-Kazmierczak, Agata Lipiec, Dorota Maksym-Gasiorek, Anna Materna-Kiryluk, Hanna Mazurkiewicz, Michal Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, Renata Posmyk, Antoni Pyrkosz, Mariola Rudzka-Dybala, Ryszard Slezak, Marzena Wisniewska, Zofia Zalewska-Miszkurka, Elzbieta Szczepanik, Ewa Obersztyn, Monika Bekiesinska-Figatowska, Pawel Gawlinski, Wojciech Wiszniewski
Summary: Congenital microcephaly is a complex disorder with genetic and environmental factors causing smaller head circumference and often accompanying neurodevelopmental disorders. Research has identified various candidate genes contributing to microcephaly.
Article
Cell Biology
Lekshmy Srinivas, Neetha N. Vellichirammal, Indu Nair, Chandrasekharan M. Nair, Moinak Banerjee
Summary: The immune system plays a significant role in the development of schizophrenia, with the MHC complex and cytokines being important factors. In this study, a strong association was found between rs3815087 and schizophrenia in a South Indian population. Interestingly, none of the previously reported GWAS hits were replicated in this population, suggesting ethnic-specific gene-environment interactions.
Article
Environmental Sciences
D. Martin-Way, I. Puche-Sanz, J. M. Cozar, A. Zafra-Gomez, M. D. C. Gomez-Regalado, C. M. Morales-Alvarez, A. F. Hernandez, L. J. Martinez-Gonzalez, M. J. Alvarez-Cubero
Summary: Bladder cancer is one of the most common tumors globally, and this study aims to identify molecular markers and risk factors associated with it. The study found several genes associated with bladder cancer risk, as well as environmental exposures and dietary chemicals that contribute to the disease. The study also identified specific miRNA expression patterns that are elevated in bladder cancer cases. These findings suggest the potential use of non-invasive biomarkers and personalized medicine for bladder cancer management.
SCIENCE OF THE TOTAL ENVIRONMENT
(2022)
Article
Sport Sciences
Kevin Boldt, Venus Joumaa, Jeannine Turnbull, Paul W. M. Fedak, Walter Herzog
Summary: Aerobic and resistance exercise training have distinct effects on cardiac structure; combining aerobic and resistance training may lead to greater benefits for cardiac health and performance.
MEDICINE AND SCIENCE IN SPORTS AND EXERCISE
(2021)
Article
Fisheries
D. Maschette, S. Wotherspoon, A. Polanowski, B. Deagle, D. Welsford, P. Ziegler
Summary: A population genetic study on Antarctic toothfish using over 11,000 nuclear single nucleotide polymorphisms from 715 fish collected revealed that the species has very low genetic diversity, with only 0.1% of genetic variability associated with geographic location. Multiple clustering methods showed no distinct breeding populations, consistent with current theories of egg and larval dispersal by the predominant Antarctic currents.
REVIEWS IN FISH BIOLOGY AND FISHERIES
(2023)
Review
Biology
D. R. Rahul, R. Joseph Ponniah
Summary: There is limited knowledge about the genes and their polymorphisms associated with dyslexia in the Indian population. This systematic literature review suggests that the polymorphisms of the DYX1C1 and KIAA0319 genes may be worthy of attention for further replication studies to gain insight into the genetic etiology of dyslexia in India.
JOURNAL OF BIOSCIENCES
(2022)
Editorial Material
Orthopedics
Danielle Hiam, Patrice Jones, Yannis Pitsiladis, Nir Eynon
CLINICAL JOURNAL OF SPORT MEDICINE
(2023)
Article
Sport Sciences
Javier Alvarez-Romero, Mary-Jessica N. Laguette, Kirsten Seale, Macsue Jacques, Sarah Voisin, Danielle Hiam, Julian A. Feller, Oren Tirosh, Eri Miyamoto-Mikami, Hiroshi Kumagai, Naoki Kikuchi, Nobuhiro Kamiya, Noriyuki Fuku, Malcolm Collins, Alison September, Nir Eynon
Summary: This study aims to investigate the association between the COL5A1 gene and anterior cruciate ligament (ACL) injury risk. The results suggest that a specific locus of the COL5A1 gene may be associated with ACL injury risk. However, further studies with larger cohorts are needed to validate these findings and explore the functional relevance to ligament and joint biomechanics.
EUROPEAN JOURNAL OF SPORT SCIENCE
(2023)
Article
Endocrinology & Metabolism
Mary N. Woessner, Danielle Hiam, Cassandra Smith, Xuzhu Lin, Navabeh Zarekookandeh, Alexander Tacey, Lewan Parker, Shanie Landen, Macsue Jacques, Joshua R. Lewis, Tara Brennan-Speranza, Sarah Voisin, Gustavo Duque, Nir Eynon, Itamar Levinger
Summary: The study found that osteoglycin levels had a U-shaped relationship with age across both sexes, with men having higher levels than women. Higher levels of osteoglycin were associated with higher aerobic capacity and glucose concentration, suggesting a potential association between osteoglycin, aerobic fitness, and glucose regulation.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Neurosciences
Shanie Landen, Danielle Hiam, Sarah Voisin, Macsue Jacques, Severine Lamon, Nir Eynon
Summary: Sex differences in exercise physiology are underpinned by biological factors such as hormones and genetics. Although there is a lack of female participants in exercise research, existing studies have identified sex differences in physiological and molecular responses to exercise training. These differences are influenced by sex chromosomes, hormones, epigenome, and transcriptome. Future research should include both sexes, control for menstrual cycle factors, conduct large-scale and ethnically diverse studies, and integrate findings from different studies.
JOURNAL OF PHYSIOLOGY-LONDON
(2023)
Article
Sport Sciences
Macsue Jacques, Shanie Landen, Javier Alvarez Romero, Xu Yan, Danielle Hiam, Patrice Jones, Brendon Gurd, Nir Eynon, Sarah Voisin
Summary: This study compares different statistical methods to estimate individual responses to exercise training and finds that repeated testing during a 12-week intervention is effective in capturing individual responses. The reliability trial should not be used to study individual responses, but rather to classify participants.
EUROPEAN JOURNAL OF SPORT SCIENCE
(2023)
Article
Obstetrics & Gynecology
Rhiannon K. Patten, Luke C. McIlvenna, Itamar Levinger, Andrew P. Garnham, Soulmaz Shorakae, Alexandra G. Parker, Andrew J. McAinch, Raymond J. Rodgers, Danielle Hiam, Alba Moreno-Asso, Nigel K. Stepto
Summary: This study compares the effects of high-intensity interval training (HIIT) and standard moderate-intensity continuous training (MICT) on cardio-metabolic and reproductive outcomes in women with polycystic ovary syndrome (PCOS). The results show that HIIT leads to greater improvements in aerobic capacity, insulin sensitivity, menstrual cyclicity, and reductions in hyperandrogenism compared to MICT. The findings suggest that HIIT may be a more beneficial strategy for promoting health and reducing cardio-metabolic risk in overweight women with PCOS.
HUMAN REPRODUCTION
(2022)
Editorial Material
Neurosciences
Steven J. O'Bryan, Danielle Hiam
JOURNAL OF PHYSIOLOGY-LONDON
(2022)
Review
Genetics & Heredity
Kirsten Seale, Steve Horvath, Andrew Teschendorff, Nir Eynon, Sarah Voisin
Summary: This article reviews the changes in DNA methylation during aging and the statistical tools used to quantify them. It also explores the evidence linking DNA methylation to aging phenotypes and strategies for extending healthspan and lifespan. Finally, it discusses theories on the mechanistic causes of epigenetic aging.
NATURE REVIEWS GENETICS
(2022)
Article
Cell Biology
Sarah Voisin, Kirsten Seale, Macsue Jacques, Shanie Landen, Nicholas R. Harvey, Larisa M. Haupt, Lyn R. Griffiths, Kevin J. Ashton, Vernon G. Coffey, Jamie-Lee M. Thompson, Thomas M. Doering, Malene E. Lindholm, Colum Walsh, Gareth Davison, Rachelle Irwin, Catherine McBride, Ola Hansson, Olof Asplund, Aino E. Heikkinen, Paivi Piirila, Kirsi H. Pietilainen, Miina Ollikainen, Sara Blocquiaux, Martine Thomis, Coletta K. Dawn, Adam P. Sharples, Nir Eynon
Summary: Exercise training can prevent age-related decline in muscle function by targeting epigenetic aging. A meta-analysis of human skeletal muscle samples revealed that individuals with higher aerobic fitness have younger epigenetic and transcriptomic profiles. Exercise training can shift these profiles towards a younger state, while muscle disuse leads to aging of the transcriptome. This comprehensive analysis provides valuable insights for future studies on optimizing longevity through the combination of therapeutics and exercise regimes.
Article
Multidisciplinary Sciences
Rhiannon K. Patten, Luke C. McIlvenna, Alba Moreno-Asso, Danielle Hiam, Nigel K. Stepto, Simon Rosenbaum, Alexandra G. Parker
Summary: Women with PCOS have worse mental health and quality of life compared to those without PCOS. A study compared the effects of high-intensity interval training (HIIT) and moderate-intensity continuous training (MICT) on these outcomes in overweight women with PCOS. The results showed that HIIT was more effective in reducing symptoms of depression and anxiety, as well as improving quality of life, compared to MICT.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Macsue Jacques, Shanie Landen, Javier Alvarez Romero, Danielle Hiam, Ralf B. Schittenhelm, Iresha Hanchapola, Anup D. Shah, Sarah Voisin, Nir Eynon
Summary: Exercise has significant effects on both the epigenome and proteome in human muscle. A 12-week high-intensity interval training intervention was conducted on 16 healthy moderately trained males, and muscle biopsies were collected at baseline and after 4, 8, and 12 weeks. The study found significant changes in proteins and DNA methylation levels, with some proteins consistently changed across individuals and the discovery of two novel exercise-related proteins. These findings contribute to a better understanding of the impact of exercise on the human body.
