Review
Cardiac & Cardiovascular Systems
Tejas P. Singh, Matt A. Field, Matthew J. Bown, Gregory T. Jones, Jonathan Golledge
Summary: This study systematically reviewed previous AAA GWAS and identified 33 SNPs associated with AAA diagnosis at genome-wide significance. However, the association between SNPs and AAA growth was not adequately examined. Previous GWAS have various design limitations, such as inconsistent case and control ascertainment and limited phenotyping of the AAAs.
Article
Oncology
Daniel L. Hertz, Julie A. Douglas, Robert M. Miller, Kelley M. Kidwell, Christina L. Gersch, Zeruesenay Desta, Anna Maria Storniolo, Vered Stearns, Todd C. Skaar, Daniel F. Hayes, N. Lynn Henry, James M. Rae
Summary: This study identified candidate genetic variants associated with discontinuation of AI therapy due to AIMSS and successfully replicated associations for candidate variants previously reported to be associated with AIMSS risk. Replication of these associations in independent cohorts is needed before translating them into clinical practice for improving treatment outcomes in HR + breast cancer patients.
SUPPORTIVE CARE IN CANCER
(2022)
Article
Multidisciplinary Sciences
Daniel McGuire, Yu Jiang, Mengzhen Liu, J. Dylan Weissenkampen, Scott Eckert, Lina Yang, Fang Chen, Arthur Berg, Scott Vrieze, Bibo Jiang, Qunhua Li, Dajiang J. Liu
Summary: The study introduces a method called MAMBA, which assesses the posterior-probability-of-replicability for identified associations by leveraging the strength and consistency of association signals between contributing studies. Simulation results demonstrate that MAMBA is more powerful and robust than existing methods, and produces more accurate genetic effects estimates.
NATURE COMMUNICATIONS
(2021)
Review
Endocrinology & Metabolism
Satoshi Narumi
Summary: This article summarizes key findings from genome-wide association study (GWAS) for thyroid physiology and diseases and highlights how GWAS serves as a powerful research tool in elucidating the molecular mechanisms of these diseases.
Review
Endocrinology & Metabolism
Satoshi Narumi
Summary: Before 2000, methods for identifying genetic factors were limited. The development of genome-wide association study (GWAS) in the 2000s has provided a powerful research tool for elucidating molecular mechanisms of diseases. GWAS has yielded valuable information on disease risks and pathogenesis for various diseases, including endocrine disorders.
Article
Medicine, General & Internal
Lloyd J. W. Tack, Anne-Francoise Spinoit, Piet Hoebeke, Stefan Riedl, Alexander Springer, Ursula Tonnhofer, Manuela Hiess, Julia Weninger, Ahmed Mahmoud, Kelly Tilleman, Erik Van Laecke, Anders Juul, Jakob Albrethsen, Elfride De Baere, Julie Van de Velde, Hannah Verdin, Martine Cools
Summary: This study investigated the endocrine and reproductive outcomes in men with non-syndromic hypospadias (NSH). The findings revealed that spermatogenesis is significantly compromised in NSH men, especially in those born small for gestational age or with complex NSH. Additionally, poor catch-up growth may be associated with NSH men born small for gestational age.
Article
Clinical Neurology
Christine Strippel, Marisol Herrera-Rivero, Mareike Wendorff, Anja K. Tietz, Frauke Degenhardt, Anika Witten, Christina Schroeter, Christopher Nelke, Kristin S. Golombeck, Marie Madlener, Theodor Rueber, Leon Ernst, Attila Racz, Tobias Baumgartner, Guido Widman, Kathrin Doppler, Franziska Thaler, Kai Siebenbrodt, Andre Dik, Constanze Kerin, Saskia Rauber, Marco Gallus, Stjepana Kovac, Oliver M. Grauer, Alexander Grimm, Harald Pruess, Jonathan Wickel, Christian Geis, Jan Lewerenz, Norbert Goebels, Marius Ringelstein, Til Menge, Bjoern Tackenberg, Christoph Kellinghaus, Christian G. Bien, Andrea Kraft, Uwe Zettl, Fatme Seval Ismail, Ilya Ayzenberg, Christian Urbanek, Kurt-Wolfram Suhs, Simone C. Tauber, Sigrid Mues, Peter Kortvelyessy, Robert Markewitz, Asterios Paliantonis, Christian E. Elger, Rainer Surges, Claudia Sommer, Tania Kumpfel, Catharina C. Gross, Holger Lerche, Jorg Wellmer, Carlos M. Quesada, Florian Then Bergh, Klaus-Peter Wandinger, Albert J. Becker, Wolfram S. Kunz, Gerd Meyer zu Hoerste, Michael P. Malter, Felix Rosenow, Heinz Wiendl, Gregor Kuhlenbaumer, Frank Leypoldt, Wolfgang Lieb, Andre Franke, Sven G. Meuth, Monika Stoll, Nico Melzer
Summary: This study identified susceptibility loci for anti-GAD65 AINS, suggesting a strong genetic predisposition with functional implications for immunity and neural function.
Review
Cell Biology
Danli Li, Hongyan Ping, Ke Li, Junjie Lin, Xuewu Jiang, Xuan Zhang
Summary: This review summarizes the attention given to environmental oestrogens (EEs) as environmental pollutants due to their impact on congenital malformation of the male genitourinary system. The mechanisms by which EEs exposure disrupts testicular descent, a highly orchestrated process essential to human reproduction and survival, are discussed. Identification of the components of the intricate cellular and molecular networks involved in testicular descent provides opportunities for preventing and treating EEs induced male reproductive dysfunction.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2023)
Article
Multidisciplinary Sciences
Natalie Ella Miller, Andrew Steptoe
Summary: Depressive symptoms are associated with increased risk for cardiovascular disease in men, and pericardial fat and inflammation may contribute to this relationship. No significant associations were found between depressive symptoms and pericardial fat in women.
SCIENTIFIC REPORTS
(2022)
Article
Obstetrics & Gynecology
F. L. Nassan, L. Priskorn, A. Salas-Huetos, T. Halldorsson, T. K. Jensen, N. Jorgensen, J. E. Chavarro
Summary: A study found that intake of sugar-sweetened beverages (SSBs) was associated with lower sperm concentration, total sperm count, and a lower ratio of serum inhibin-B/FSH in young men, potentially affecting fertility.
HUMAN REPRODUCTION
(2021)
Article
Biochemistry & Molecular Biology
Monika Mokrzycka, Stefan Stojalowski, Miroslaw Tyrka, Przemyslaw Matysik, Barbara Zmijewska, Rafal Marcinkowski, Urszula Wozna-Pawlak, Roza Martofel, Michal Rokicki, Monika Rakoczy-Trojanowska, Pawel Krajewski
Summary: This study identified markers associated with wheat agronomic traits using genome-wide association analysis. The study also investigated the effects of markers on heterosis and their linkage disequilibrium grouping. The results revealed a large number of single nucleotide polymorphisms with significant effects, predominantly influencing protein translation modification. These findings provide valuable insights for developing new wheat varieties with desirable properties.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemical Research Methods
Zhiyu Hao, Jin Gao, Yuxin Song, Runqing Yang, Di Liu
Summary: In this study, a hierarchical mixed model (Hi-LMM) was proposed to estimate genomic breeding values and infer the association between genotypes and phenotypes, effectively correcting confounding factors and improving the statistical power of association analysis.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Obstetrics & Gynecology
Marta Camacho, Camil Castelo-Branco
Summary: This study reports a rare phenotype of Kallmann syndrome in two sisters, characterized by reproductive disorders as well as a variety of nonreproductive disorders and neurological issues. These cases illustrate the heterogeneity of the clinical presentation of Kallmann syndrome and the difficulties in diagnosis.
REPRODUCTIVE SCIENCES
(2022)
Article
Genetics & Heredity
Xiangguang Meng, Yali Nie, Keke Wang, Chen Fan, Juntao Zhao, Yiqiang Yuan
Summary: This study successfully identified novel biomarkers associated with atrial fibrillation (AF) and discovered two new AF-associated genes (ERBB2 and MYPN) through integrative genetic analysis approaches, combining GWAS with expression profile data. These findings provide preliminary data for further understanding the occurrence and development of AF.
FRONTIERS IN GENETICS
(2021)
Article
Clinical Neurology
Shogo Dofuku, Kyuto Sonehara, Satoru Miyawaki, Saori Sakaue, Hideaki Imai, Masahiro Shimizu, Hiroki Hongo, Yuki Shinya, Kenta Ohara, Yu Teranishi, Atsushi Okano, Hideaki Ono, Hirofumi Nakatomi, Akira Teraoka, Kenichi Yamamoto, Yuichi Maeda, Takuro Nii, Toshihiro Kishikawa, Ken Suzuki, Jun Hirata, Meiko Takahashi, Koichi Matsuda, Atsushi Kumanogoh, Fumihiko Matsuda, Yukinori Okada, Nobuhito Saito
Summary: This study conducted the first genome-wide association study (GWAS) of intracranial artery stenosis (ICAS) in a Japanese population. They identified a functional variant of RNF2J3, rs112735431, that was significantly associated with ICAS. Furthermore, they found that this variant was also associated with high blood pressure and angina.
TRANSLATIONAL STROKE RESEARCH
(2023)
Article
Psychology, Clinical
Wisteria Deng, Jean Addington, Carrie E. Bearden, Kristin S. Cadenhead, Barbara A. Cornblatt, Daniel H. Mathalon, Diana O. Perkins, Larry J. Seidman, Ming T. Tsuang, Scott W. Woods, Elaine F. Walker, Tyrone D. Cannon
Summary: This study found that there are different covariant trajectories of social anxiety and positive symptoms over time in individuals at clinical high-risk for psychosis. One subgroup showed sustained social anxiety despite moderate recovery in positive symptoms, while the other two subgroups showed recovery in both social anxiety and positive symptoms. The subgroup with sustained social anxiety had poorer long-term functional outcomes and higher levels of genetic and environmental risk factors for psychosis.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Andrology
Nina Morup, Ailsa Maria Main, Niels Jorgensen, Gedske Daugaard, Anders Juul, Kristian Almstrup
Summary: This study is the first to report the identification of microbiome species in the seminal plasma of men with TGCT and GCNIS-only, and has found some species differences that may be involved in the pathogenesis of TGCTs. Further studies are needed to confirm these findings.
Article
Endocrinology & Metabolism
Anders Juul, Philippe Backeljauw, Marco Cappa, Alberto Pietropoli, Nicky Kelepouris, Agnes Linglart, Roland Pfaeffle, Mitchell Geffner
Summary: This study aimed to assess the impact of patient age at growth hormone (GH) therapy initiation on long-term growth outcomes and safety in short children born small for gestational age (SGA).
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Oncology
P. L. Jorgensen, M. Kreiberg, N. Jorgensen, A. Juul, P. S. Oturai, C. Dehlendorff, J. Lauritsen, T. Wagner, J. Rosenvilde, G. Daugaard, C. R. Medici, N. R. Jorgensen, M. Bandak
Summary: The aim of this study was to evaluate the metabolic profile and bone mineral density (BMD) changes in testicular cancer survivors with mild Leydig cell insufficiency after 12 months of testosterone replacement therapy (TRT). The results showed that TRT did not significantly affect BMD, but it resulted in a small increase in N-terminal propeptide of type 1 procollagen (P1NP), which had little clinical significance.
Article
Medicine, General & Internal
Rune Holt, Sam Kafai Yahyavi, Ireen Kooij, Christine Hjorth Andreassen, Anna-Maria Andersson, Anders Juul, Niels Jorgensen, Martin Blomberg Jensen
Summary: This study investigated the role of circulating AMH in men and found that low serum AMH is associated with severely impaired gonadal function. Vitamin D supplementation had no effect on serum AMH.
Article
Obstetrics & Gynecology
Ann-Kristin Dicke, Jakob Albrethsen, Bradley L. Hoare, Margot J. Wyrwoll, Alexander S. Busch, Daniela Fietz, Adrian Pilatz, Clara Buehlmann, Anders Juul, Sabine Kliesch, Joerg Gromoll, Ross A. D. Bathgate, Frank Tuettelmann, Birgit Stallmeyer
Summary: This study reveals that bi-allelic loss-of-function variants in the INSL3 and RXFP2 genes are associated with bilateral cryptorchidism and male infertility, while heterozygous variant carriers are unaffected phenotypically. These findings have diagnostic value for patients with familial/bilateral cryptorchidism and shed light on the importance of INSL3 and RXFP2 in testicular descent and fertility.
HUMAN REPRODUCTION
(2023)
Article
Environmental Sciences
Frederik Damsgaard Hojsager, Annika Sigvaldsen, Marianne Skovsager Andersen, Anders Juul, Flemming Nielsen, Soren Moller, Henrik Boye Thybo Christesen, Anders Grontved, Philippe Grandjean, Tina Kold Jensen
Summary: This study found that prenatal and early postnatal exposure to perfluoroalkyl substances (PFAS) is associated with lower bone mineral density (BMD) at age 7. The association is stronger for exposure at 18 months than prenatal exposure.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Oncology
Astrid L. Beck, Cecilie S. Uldbjerg, Youn-Hee Lim, Brent A. Coull, Karina M. Sorensen, Magdalena M. Utko, Bartlomiej Wilkowski, Panu Rantakokko, Marie Bengtsson, Christian Lindh, Jorgen H. Petersen, Niels E. Skakkebaek, Russ Hauser, Anders Juul, Elvira V. Brauner
Summary: Maternal smoking during pregnancy does not appear to be significantly associated with the risk of testicular germ cell cancer (TGCC) in offspring, based on a study using cotinine measurements as a biomarker for tobacco exposure. The study found comparable cotinine levels in maternal serum and amniotic fluid, but no significant association between active tobacco use and TGCC risk. However, different risks were observed for different types of TGCC, although they were not statistically significant.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Andrology
Rune Holt, Sam Kafai Yahyavi, Ireen Kooij, Nadia Nicholine Poulsen, Anders Juul, Niels Jorgensen, Martin Blomberg Jensen
Summary: This study aimed to investigate whether vitamin D supplementation has an impact on sex steroid production in infertile men with vitamin D insufficiency. The results showed that vitamin D supplementation did not alter sex steroid production in infertile men overall, but in men with vitamin D insufficiency, it significantly increased testosterone/luteinizing hormone ratio.
Article
Andrology
Mette Petri Lauritsen, Thomas Leineweber Kristensen, Christine Bo Hansen, Uffe Vest Schneider, Anna Lando Talbot, Anne-Bine Skytte, Jorgen Holm Petersen, Trine Holm Johannsen, Anne Zedeler, Jakob Albrethsen, Anders Juul, Laerke Priskorn, Niels Jorgensen, Henrik Westh, Nina la Cour Freiesleben, Henriette Svarre Nielsen
Summary: This study assessed the impact of mild COVID-19 infection on testicular function and found lower reproductive hormone levels and semen parameters during acute infection, with improvement at follow-up. The study also showed a low risk of SARS-CoV-2 transmission through semen.
Article
Oncology
Sara L. Garcia, Jakob Lauritsen, Bernadette K. Christiansen, Ida F. Hansen, Mikkel Bandak, Marlene D. Dalgaard, Gedske Daugaard, Ramneek Gupta
Summary: This study incorporates genetics and clinical factors in a machine learning setup to predict hearing loss in testicular cancer patients. It identifies genetic variants in SOD2 and MGST3 that are associated with cisplatin-induced hearing loss. The models in this study focus on individual patient benefit and quality of life measures. The results of the study can help with the early detection and prevention of hearing loss.
Article
Endocrinology & Metabolism
Mette Falkenberg Krantz, Hanne Frederiksen, Carsten Hjorth, Anne S. Ondergaard, Julie Marie Brandt, Sinnika Birkehoj Rohd, Lotte Veddum, Nanna Lawaetz Steffensen, Christina Bruun Knudsen, Anna Krogh Andreasen, Nicoline Hemager, Birgitte Klee Burton, Maja Gregersen, Aja Neergaard Greve, Jessica Ohland, Vibeke Bliksted, Ole Mors, Anne A. E. Thorup, Anders Juul, Merete Nordentoft
Summary: Pubertal timing does not differ between children of parents with severe mental illness and controls, but placement out of home may be associated with accelerated pubertal timing among these children.
COMPREHENSIVE PSYCHONEUROENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Jim Clauwaert, Zahra McVey, Ramneek Gupta, Gerben Menschaert
Summary: The correct mapping of the proteome is crucial for understanding biological systems and advancing drug discovery and disease understanding. In this study, we propose TIS Transformer, a deep learning model that accurately determines translation start sites using only sequence information. Our method outperforms previous approaches and can detect key features of the translation process and multiple coding sequences on a transcript, including micropeptides encoded by short Open Reading Frames. We demonstrated the application of our method by remapping the full human proteome.
NAR GENOMICS AND BIOINFORMATICS
(2023)