Article
Gastroenterology & Hepatology
Connor A. Emdin, Mary Haas, Veeral Ajmera, Tracey G. Simon, Julian Homburger, Cynthia Neben, Lan Jiang, Wei-Qi Wei, Qiping Feng, Alicia Zhou, Joshua Denny, Kathleen Corey, Rohit Loomba, Sekar Kathiresan, Amit Khera
Summary: This study identified 12 independent genetic variants, including 7 newly identified ones, that confer risk for cirrhosis. A polygenic score based on these variants can identify a subset of the population at substantially increased risk, particularly those susceptible to the hepatotoxic effects of excess alcohol consumption or obesity.
Article
Genetics & Heredity
Lingling Liu, Yunting Zhang, Haiyu Ma, Hang Cao, Wujun Liu
Summary: This study investigated the genome-wide DNA methylation profiles of Kazakh horse blood, identifying differential methylated regions and genes involved in regulating milk production in horses.
Article
Medicine, General & Internal
Yusuke Ebana, Lian Liu, Kensuke Ihara, Keiko Abe, Chikashi Terao, Yoichiro Kamatani, Tetsuo Sasano, Tetsushi Furukawa
Summary: This study aimed to explore novel ischemic stroke risk variants in patients with a history of atrial fibrillation (AF), and to investigate their associations with CHADS2 and CHA2DS2-VASc scores. By conducting an association study on 8181 AF cases, we identified eight genetic loci that were potentially associated with the risk of ischemic stroke. Further analysis showed that these associations were independent of CHADS2 or CHA2DS2-VASc scores.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Biochemistry & Molecular Biology
Yu Mori, Kazuko Ueno, Daisuke Chiba, Ko Hashimoto, Yosuke Kawai, Kazuyoshi Baba, Hidetatsu Tanaka, Takashi Aki, Masanori Ogasawara, Naoto Shibasaki, Katsushi Tokunaga, Toshimi Aizawa, Masao Nagasaki
Summary: This study investigated the association between developmental dysplasia of the hip (DDH) and disease-associated loci in a Japanese cohort. GWAS was performed on 238 Japanese DDH patients and 2044 healthy individuals, with a replicate GWAS conducted on UK Biobank data. Gene set enrichment analyses (GSEAs) of both genetics and transcriptome revealed the ferroptosis signaling pathway to be significantly associated with DDH. This suggests that the ferroptosis signaling pathway may play a role in the pathogenesis of DDH.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biotechnology & Applied Microbiology
Jie Gao, Xin Hu, Chunyan Gao, Guang Chen, Hui Feng, Zhen Jia, Peimin Zhao, Haiyang Yu, Huaiwen Li, Zedong Geng, Jingbo Fu, Jun Zhang, Yikeng Cheng, Bo Yang, Zhanghan Pang, Daoquan Xiang, Jizeng Jia, Handong Su, Hailiang Mao, Caixia Lan, Wei Chen, Wenhao Yan, Lifeng Gao, Wanneng Yang, Qiang Li
Summary: This study used a non-invasive and high-throughput phenotyping platform to monitor a diverse wheat panel and investigate the genetic controls of growth and yield-related traits. By conducting whole genome re-sequencing and a genome-wide association analysis, the study identified numerous marker-trait associations and quantitative trait loci (QTLs) that contribute to wheat growth and yield production. The temporal dynamics of these QTLs were also revealed. This research provides insights into optimizing wheat growth and yield, and offers the potential for high-throughput early selection to accelerate breeding.
PLANT BIOTECHNOLOGY JOURNAL
(2023)
Article
Multidisciplinary Sciences
Ruth Chia, Sara Saez-Atienzar, Natalie Murphy, Adriano Chio, Cornelis Blauwendraat, Ricardo H. Roda, Pentti J. Tienari, Henry J. Kaminski, Roberta Ricciardi, Melania Guida, Anna De Rosa, Loredana Petrucci, Amelia Evoli, Carlo Provenzano, Daniel B. Drachman, Bryan J. Traynor
Summary: This study identified genetic risk loci associated with myasthenia gravis through a genome-wide association study and demonstrated different genetic risk factors between early-onset and late-onset cases. Genetic correlation analysis also revealed a genetic link between myasthenia gravis and other autoimmune diseases.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Review
Cell Biology
Carina Mauersberger, Heribert Schunkert, Hendrik B. Sager
Summary: While the importance of inflammation in atherosclerosis is recognized, the exact molecular processes remain unclear. Modern genetics, specifically genome-wide association studies, have revealed many loci related to inflammatory processes in coronary artery disease, but translating these findings into specific molecular mechanisms is still challenging.
Article
Rheumatology
Chien-Yu Lin, Ya-Sian Chang, Ting-Yuan Liu, Chung-Ming Huang, Chin-Chun Chung, Yu-Chia Chen, Fuu-Jen Tsai, Jan-Gowth Chang, Shun-Jen Chang
Summary: This study identified genetic variants and polygenic risk scores related to female gout and asymptomatic hyperuricaemia (AH) through a genome-wide association study (GWAS). The variants in the SLC2A9 gene were found to be the major genetic factors associated with gout in females aged >= 50, while variants in the SLC2A9, ZNF518B, PKD2, and ABCG2 genes were significantly related to AH in both age groups. The polygenic risk score provided a more accurate prediction of gout and AH.
Article
Cardiac & Cardiovascular Systems
Carolina Roselli, Mengyao Yu, Victor Nauffal, Adrien Georges, Qiong Yang, Katie Love, Lu-Chen Weng, Francesca N. Delling, Svetlana R. Maurya, Maren Schrolkamp, Jacob Tfelt-Hansen, Albert Hagege, Xavier Jeunemaitre, Stephanie Debette, Philippe Amouyel, Wyliena Guan, Jochen D. Muehlschlegel, Simon C. Body, Svati Shah, Zainab Samad, Sergiy Kyryachenko, Carol Haynes, Michiel Rienstra, Thierry Le Tourneau, Vincent Probst, Ronan Roussel, Inez J. Wijdh-Den Hamer, Joylene E. Siland, Kirk U. Knowlton, Jean Jacques Schott, Robert A. Levine, Emelia J. Benjamin, Ramachandran S. Vasan, Benjamin D. Horne, Joseph B. Muhlestein, Giovanni Benfari, Maurice Enriquez-Sarano, Andrea Natale, Sanghamitra Mohanty, Chintan Trivedi, Moore B. Shoemaker, Zachary T. Yoneda, Quinn S. Wells, Michael T. Baker, Eric Farber-Eger, Hector Michelena, Alicia Lundby, Russell A. Norris, Susan A. Slaugenhaupt, Christian Dina, Steven A. Lubitz, Nabila Bouatia-Naji, Patrick T. Ellinor, David J. Milan
Summary: We conducted a meta-analysis of six genome-wide association studies and identified 14 loci associated with mitral valve prolapse (MVP). Integration of epigenetic, transcriptional, and proteomic data revealed potential candidate genes for MVP. Additionally, we developed a polygenic risk score (PRS) for MVP that improved risk prediction beyond traditional clinical factors.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Tatsuhiko Naito, Kosuke Inoue, Kyuto Sonehara, Ryuta Baba, Takaya Kodama, Yu Otagaki, Akira Okada, Kiyotaka Itcho, Kazuhiro Kobuke, Shinji Kishimoto, Kenichi Yamamoto, Takayuki Morisaki, Yukihito Higashi, Nobuyuki Hinata, Koji Arihiro, Noboru Hattori, Yukinori Okada, Kenji Oki
Summary: This study identified 10 loci associated with the risk of primary aldosteronism (PA) in the Japanese population, and 5 significantly associated loci in a cross-ancestry meta-analysis. The strongest association was found with a variant of the WNT2B gene, highlighting the involvement of the Wnt/beta-catenin pathway in PA pathogenesis.
Article
Multidisciplinary Sciences
Wei-Yu Lin, Sarah E. Fordham, Nicola Sunter, Claire Elstob, Thahira Rahman, Elaine Willmore, Colin Shepherd, Gordon Strathdee, Tryfonia Mainou-Fowler, Rachel Piddock, Hannah Mearns, Timothy Barrow, Richard S. Houlston, Helen Marr, Jonathan Wallis, Geoffrey Summerfield, Scott Marshall, Andrew Pettitt, Christopher Pepper, Christopher Fegan, Francesco Forconi, Martin J. S. Dyer, Sandrine Jayne, April Sellors, Anna Schuh, Pauline Robbe, David Oscier, James Bailey, Syed Rais, Alison Bentley, Lynn Cawkwell, Paul Evans, Peter Hillmen, Guy Pratt, David J. Allsup, James M. Allan
Summary: Prognostication in CLL patients is challenging due to its heterogeneous clinical course. This study identifies two genomic locations associated with disease progression, highlighting the impact of constitutional genetic variation on CLL prognosis. Additionally, functional genes implicated in modulating key pathways in CLL pathogenesis are identified.
NATURE COMMUNICATIONS
(2021)
Article
Ophthalmology
Hao-Kai Chuang, Ai-Ru Hsieh, Tien-Yap Ang, Szu-Wen Chen, Yi-Ping Yang, Hung-Juei Huang, Shih-Hwa Chiou, Tai -Chi Lin, Shih-Jen Chen, Chih-Chien Hsu, De-Kuang Hwang
Summary: This study identified TMEM132D and VIPR2 as genetic candidates linked to RD in Han Chinese populations, and developed a PRS that effectively predicts the risk of RD.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Clinical Neurology
Chunyu Li, Ruwei Ou, Yongping Chen, Xiaojing Gu, Qianqian Wei, Bei Cao, Lingyu Zhang, Yanbing Hou, Kuncheng Liu, Xueping Chen, Wei Song, Bi Zhao, Ying Wu, Tao Li, Xianjun Dong, Huifang Shang
Summary: This study identified a novel significant intergenic locus that could delay the onset age of Parkinson's disease and suggested a positive selection in the East Asian population. Cross-ethnic meta-analysis also identified a significant locus related to the age at onset of PD in different ethnic groups. These findings contribute to a better understanding of the genetic etiology of AAO of PD and provide new targets for further research and potential therapeutic options.
MOVEMENT DISORDERS
(2021)
Article
Gastroenterology & Hepatology
Tae-Hwi Schwantes-An, Rebecca Darlay, Philippe Mathurin, Steven Masson, Suthat Liangpunsakul, Sebastian Mueller, Guruprasad P. Aithal, Florian Eyer, Dermot Gleeson, Andrew Thompson, Beat Muellhaupt, Felix Stickel, Michael Soyka, David Goldman, Tiebing Liang, Lawrence Lumeng, Munir Pirmohamed, Bertrand Nalpas, Jean-Marc Jacquet, Romain Moirand, Pierre Nahon, Sylvie Naveau, Pascal Perney, Greg Botwin, Paul S. Haber, Helmut K. Seitz, Christopher P. Day, Tatiana M. Foroud, Ann K. Daly, Heather J. Cordell, John B. Whitfield, Timothy R. Morgan, Devanshi Seth
Summary: The study identified several genetic variants associated with the risk of alcohol-associated cirrhosis, including PNPLA3, HSD17B13, and FAF2. Through GWAS and meta-analysis, these genetic variants were confirmed to be related to the risk of cirrhosis. For heavy drinkers, the FAF2 gene may be associated with a reduced risk of ALC.
Article
Endocrinology & Metabolism
Min Wang, Kun Mei, Ce Chao, Dongmei Di, Yongxiang Qian, Bin Wang, Xiaoying Zhang
Summary: Mendelian randomization analysis clarified the potential association between rheumatoid arthritis (RA) and heart failure (HF), indicating that genetic susceptibility to RA may increase the risk of HF.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Agriculture, Dairy & Animal Science
H. Rockwell, M. Mack, T. Famula, L. Sandmeyer, B. Bauer, A. Dwyer, M. Lassaline, S. Beeson, S. Archer, M. McCue, R. R. Bellone
Editorial Material
Agriculture, Dairy & Animal Science
S. K. Beeson, J. R. Mickelson, M. E. McCue
Correction
Multidisciplinary Sciences
C. E. T. Araujo, C. M. C. Oliveira, J. D. Barbosa, J. P. Oliveira-Filho, L. A. L. Resende, P. R. Badial, J. P. Araujo-Junior, M. E. Mccue, A. S. Borges
SCIENTIFIC REPORTS
(2020)
Article
Agriculture, Dairy & Animal Science
Samantha L. Van Buren, James R. Mickelson, Katie M. Minor
Article
Biotechnology & Applied Microbiology
E. A. Hisey, H. Hermans, Z. T. Lounsberry, F. Avila, R. A. Grahn, K. E. Knickelbein, S. A. Duward-Akhurst, M. E. McCue, T. S. Kalbfleisch, M. E. Lassaline, W. Back, R. R. Bellone
Article
Cell Biology
James R. Mickelson, Katie M. Minor, Ling T. Guo, Steven G. Friedenberg, Jonah N. Cullen, Amanda Ciavarella, Lydia E. Hambrook, Karen M. Brenner, Sarah E. Helmond, Stanley L. Marks, G. Diane Shelton
Summary: A cohort of related miniature dachshund dogs with a rare myopathy characterized by exercise intolerance, stiff gait, dysphagia, and myoglobinuria was studied using a combination of muscle biopsy histopathology, immunofluorescence microscopy, Western blotting, genetic mapping, and whole genome sequencing. A premature stop codon mutation in the SGCA gene was identified as the genetic basis of the myopathy, confirming affected dachshunds on multiple continents and adding to the literature on genetic bases of canine muscular dystrophies.
Article
Genetics & Heredity
N. B. Kingsley, Natasha A. Hamilton, Gabriella Lindgren, Ludovic Orlando, Ernie Bailey, Samantha Brooks, Molly McCue, T. S. Kalbfleisch, James N. MacLeod, Jessica L. Petersen, Carrie J. Finno, Rebecca R. Bellone
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Elaine M. Norton, Katie M. Minor, Susan M. Taylor, Molly E. McCue, James R. Mickelson
Summary: Border collie collapse (BCC) is a moderately- to highly-heritable complex polygenetic disease triggered by strenuous exercise, with 49-61% heritability. The genetic architecture shows contributions from 2003 SNPs of small effect, 349 SNPs of moderate effect, and 56 SNPs of large effect. GWA analyses identified significant loci on chromosomes 1, 6, 11, 20, and 28, explaining around 5% of the total BCC heritability.
Article
Genetics & Heredity
S. A. Durward-Akhurst, R. J. Schaefer, B. Grantham, W. K. Carey, J. R. Mickelson, M. E. McCue
Summary: This study established the largest catalog of genetic variation for horses using whole genome sequencing of 534 horses, examining the distribution of variations within horse populations, the allele frequencies across breeds, and unique breed-specific variants. The research also investigated potentially embryonic lethal variants and regions of the genome with errors or poor annotation.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
G. Diane Shelton, Katie M. Minor, Ling T. Guo, Alison Thomas-Hollands, Koranda A. Walsh, Steven G. Friedenberg, Jonah N. Cullen, James R. Mickelson
Summary: This report describes a novel genetic basis for congenital dyserythropoietic anemia and polymyopathy in Labrador Retriever littermates. A nonsense variant in the EHBP1L1 gene was identified in a homozygous form in the affected dogs, leading to a premature stop codon and deletion of approximately 90% of the protein. The EHBP1L1 gene is critical to actin cytoskeletal organization and apical-directed transport in polarized epithelial cells, and its connection to BIN1 and DMN2 functions is particularly interesting.
Article
Agriculture, Dairy & Animal Science
Nicole B. Kingsley, Lynne Sandmeyer, Elaine M. Norton, Doug Speed, Ann Dwyer, Mary Lassaline, Molly McCue, Rebecca R. Bellone
Summary: This study aimed to determine the heritability of insidious uveitis in the Appaloosa horse breed. By analyzing genotype data, it was found that insidious uveitis has a high heritability among Appaloosas, and there are additional genetic loci outside of the known coat pattern gene that contribute to the genetic risk for this disease.
Article
Genetics & Heredity
Kari J. Ekenstedt, Katie M. Minor, G. Diane Shelton, James J. Hammond, Andrew D. Miller, Susan M. Taylor, Yanyun Huang, James R. Mickelson
Summary: ARSACS is a human neurological disorder characterized by progressive cerebellar ataxia and peripheral neuropathy. A similar disorder was recently identified in Great Pyrenees dogs, showing widespread central nervous system degeneration leading to progressive cerebellar ataxia and spasticity, combined with peripheral neuropathy. The disease follows an autosomal recessive inheritance pattern and is associated with mutations in the SACS gene.
Article
Genetics & Heredity
G. Diane Shelton, Katie M. Minor, Steven G. Friedenberg, Jonah N. Cullen, Ling T. Guo, James R. Mickelson
Summary: The spectrum of canine muscular dystrophies has expanded rapidly with the identification of more affected breeds and associated mutations. Gene defects in the sarcolemma and the extracellular matrix have been found to be responsible for various forms of muscular dystrophies. Whole genome sequencing and whole exome sequencing have helped to discover new causative mutations. In this report, new forms of X-linked muscular dystrophy in Brittany spaniels and a French bulldog are described.
Article
Agriculture, Dairy & Animal Science
Anna Letko, Katie M. Minor, Vidhya Jagannathan, Franz R. Seefried, James R. Mickelson, Pieter Oliehoek, Cord Droegemueller
GENETICS SELECTION EVOLUTION
(2020)