Article
Biochemistry & Molecular Biology
Chanwoo Kim, Young Jin Kim, Wanson Choi, Hye-Mi Jang, Mi Yeong Hwang, Sunwoo Jung, Hyunjoon Lim, Sang Bin Hong, Kyungheon Yoon, Bong-Jo Kim, Hyun-Young Park, Buhm Han
Summary: This study conducted research on human leukocyte antigen (HLA) gene variants in the major histocompatibility complex (MHC) region in the Korean population. By analyzing the associations between genetic variants and phenotypes, new association signals were discovered, and the heritability explained by MHC variants and genetic correlations among phenotypes were analyzed.
HUMAN MOLECULAR GENETICS
(2022)
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
Allergy
Kyung Won Kim, Dong Yun Kim, Dankyu Yoon, Ka-Kyung Kim, Haerin Jang, Nathan Schoettler, Eun Gyul Kim, Mi Na Kim, Jung Yeon Hong, Jeom-Kyu Lee, Sangwoo Kim, Carole Ober, Heon Yung Gee, Myung Hyun Sohn
Summary: This study identified a new susceptibility gene, TNFSF15, and replicated associations at the 17q12-21 locus for childhood-onset asthma in Korean children with persistent asthma. The novel association may be mediated by reduced expression of serum TNFSF15 and loss of suppression of angiogenesis.
Article
Biochemistry & Molecular Biology
Zhen-Fei Chao, Yuan-Yuan Chen, Chen Ji, Ya-Ling Wang, Xing Huang, Chu-Ying Zhang, Jun Yang, Tao Song, Jia-Chen Wu, Liang-Xing Guo, Chu-Bin Liu, Mei-Ling Han, Yong-Rui Wu, Jianbing Yan, Dai-Yin Chao
Summary: Through a genome-wide association study, researchers have identified the gene ZmYSL2 responsible for loading zinc to maize kernels, and found that it plays a key role in the natural variation of zinc concentration in maize kernels.
Article
Allergy
Janet K. Jackman, Amy Stockwell, David F. Choy, Markus M. Xie, Peipei Lu, Guiquan Jia, Hong Li, Alexander R. Abbas, Paola G. Bronson, Wei-Yu Lin, Cecilia P. C. Chiu, Henry R. Maun, Merone Roose-Girma, Lucinda Tam, Juan Zhang, Zora Modrusan, Robert R. Graham, Timothy W. Behrens, Steven R. White, Ted Naureckas, Carole Ober, Manuel Ferreira, Radislav Sedlacek, Jiansheng Wu, Wyne P. Lee, Robert A. Lazarus, James T. Koerber, Joseph R. Arron, Brian L. Yaspan, Tangsheng Yi
Summary: This study identified a novel gene, KLK5, associated with T2-low asthma, and discovered its role in disease development through unbiased genome-wide association analysis and biological analysis.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Microbiology
Na Pei, Wanying Sun, Jingxuan He, Yanming Li, Xia Chen, Tianzhu Liang, Karsten Kristiansen, Wenen Liu, Junhua Li
Summary: The study identified potential marker genes and SNPs associated with carbapenem resistance in Klebsiella pneumoniae, highlighting the complex mechanisms involved such as biofilm formation, efflux pump, and DNA repair. Further investigation of CRKP-related factors is necessary to better understand their contributions to carbapenem resistance. These identified biomarkers could provide targets for future drug interventions or treatments.
FRONTIERS IN MICROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Pirro G. Hysi, Massimo Mangino, Paraskevi Christofidou, Mario Falchi, Edward D. Karoly, Robert P. Mohney, Ana M. Valdes, Tim D. Spector, Cristina Menni
Summary: This study conducted a genome-wide association study on the levels of circulating metabolites in European subjects, identifying 202 unique genomic regions associated with 478 different metabolites. The replication study confirmed the robustness of these associations and discovered 74 novel genomic regions not previously associated with any metabolites.
Article
Plant Sciences
Changwei Ge, Li Wang, Yongfei Yang, Ruihua Liu, Shaodong Liu, Jing Chen, Qian Shen, Huijuan Ma, Li Yang, Siping Zhang, Chaoyou Pang
Summary: GhSAD1 regulates cold stress responses in cotton by modulating the activity of C-repeat binding factors, regulating COLD-REGULATED genes and ABA signaling. Overexpression of GhSAD1 increases cold tolerance and ABA content, while silencing of GhSAD1 decreases ABA content. GhSAD1 also induces the expression of COLD-REGULATED genes and increases metabolites associated with cold stress tolerance. These findings contribute to our understanding of the molecular mechanisms underlying cold stress responses in cotton mediated by GhSAD1.
JOURNAL OF EXPERIMENTAL BOTANY
(2022)
Review
Biochemistry & Molecular Biology
Yin Huang, Dan Li, Lu Qiao, Yu Liu, Qianqian Peng, Sijie Wu, Manfei Zhang, Yajun Yang, Jingze Tan, Shuhua Xu, Li Jin, Sijia Wang, Kun Tang, Stefan Grunewald
Summary: This study conducted a genome-wide association study on the genetic basis of facial morphology in the Han Chinese population, identifying significant associations between multiple facial features and different genomic regions. These findings contribute to a more comprehensive understanding of the genetic factors underlying variation in human facial morphology.
JOURNAL OF GENETICS AND GENOMICS
(2021)
Article
Cardiac & Cardiovascular Systems
Ling Li, Zhifen Chen, Moritz von Scheidt, Shuangyue Li, Andrea Steiner, Ulrich Gueldener, Simon Koplev, Angela Ma, Ke Hao, Calvin Pan, Aldons J. Lusis, Shichao Pang, Thorsten Kessler, Raili Ermel, Katyayani Sukhavasi, Arno Ruusalepp, Julien Gagneur, Jeanette Erdmann, Jason C. Kovacic, Johan L. M. Bjorkegren, Heribert Schunkert
Summary: This study systematically identified susceptibility genes for coronary artery disease (CAD) using transcriptome-wide association studies (TWAS). The study prioritized candidate causal genes at known GWAS loci, identified 18 novel genes associated with CAD, and suggested potential tissues and pathways of action for these TWAS CAD genes.
BASIC RESEARCH IN CARDIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Bryce Rowland, Sanan Venkatesh, Manuel Tardaguila, Jia Wen, Jonathan D. Rosen, Amanda L. Tapia, Quan Sun, Mariaelisa Graff, Dragana Vuckovic, Guillaume Lettre, Vijay G. Sankaran, Georgios Voloudakis, Panos Roussos, Jennifer E. Huffman, Alexander P. Reiner, Nicole Soranzo, Laura M. Raffield, Yun Li
Summary: Using transcriptome-wide association study, this research identified numerous gene-trait associations related to hematological traits and assigned these variants to putative target genes.
HUMAN MOLECULAR GENETICS
(2022)
Article
Multidisciplinary Sciences
Qingqin S. Li, Randall L. Morrison, Gustavo Turecki, Wayne C. Drevets
Summary: Epigenetic mechanisms play a significant role in the etiology of major depressive disorder (MDD), as indicated by a meta-analysis study. The study identified differentially methylated positions (DMPs) and differentially methylated regions (DMRs) associated with MDD, highlighting the involvement of pathways related to neuronal synaptic plasticity, calcium signaling, and inflammation.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, General & Internal
Soo Yeon Kim, Eun Gyul Kim, Mina Kim, Jung Yeon Hong, Ga Eun Kim, Jae Hwa Jung, Mireu Park, Min Jung Kim, Yoon Hee Kim, Myung Hyun Sohn, Kyung Won Kim
Summary: Through a genome-wide association study, genetic variants of BTNL2 were found to be associated with atopic moderate to severe persistent asthma in Korean children, as well as with the risk of allergic sensitization and bronchial hyperresponsiveness.
Article
Cardiac & Cardiovascular Systems
Aeron M. Small, Gina M. Peloso, Jason Linefsky, Jayashri Aragam, Ashley Galloway, Vidisha Tanukonda, Lu-Chen Wang, Zhi Yu, Margaret Sunitha H. Selvaraj, Eric H. T. Farber-Eger, Michael T. Baker, Shefali Setia-Verma, Simon S. K. Lee, Michael D. Preuss, Marylyn D. M. Ritchie, Scott M. J. Damrauer, Daniel J. S. Rader, Quinn S. Wells, Ruth A. Loos, Steven A. Lubitz, George Thanassoulis, Kelly Cho, Peter W. F. Wilson, Pradeep J. Natarajan, Christopher J. O'Donnell
Summary: This study conducted a genome-wide association study and identified 23 significant genetic variants associated with calcific aortic stenosis (CAS). The study also revealed the involvement of lipid metabolism, inflammation, cellular senescence, and obesity in the pathobiology of CAS. Furthermore, it compared the genetic architecture of CAS with atherosclerotic cardiovascular diseases.
Article
Biotechnology & Applied Microbiology
Charlotte E. Vollenbrock, Delnaz Roshandel, Melanie M. van der Klauw, Bruce H. R. Wolffenbuttel, Andrew D. Paterson
Summary: This study found that skin autofluorescence (SAF) has a high heritability and identified genetic variants associated with SAF through genome-wide association studies (GWAS). Further investigating the genetic architecture of SAF can improve its utility as a tool for screening and early detection of diseases.
Review
Ophthalmology
Satheesh Kumar, Lewis E. Fry, Jiang-Hui Wang, Keith R. Martin, Alex W. Hewitt, Fred K. Chen, Guei-Sheung Liu
Summary: Genetic medicine provides hope for previously untreatable diseases, and the eye is at the forefront of these advances. Luxturna(R) is an example of a gene therapy that gained US FDA approval for the treatment of inherited blindness, and other gene therapy clinical trials for eye diseases are ongoing. RNA-targeting systems, such as antisense oligonucleotides (ASO) and RNA interference (RNAi), as well as CRISPR-Cas systems, are emerging as promising strategies for developing therapeutics.
PROGRESS IN RETINAL AND EYE RESEARCH
(2023)
Article
Clinical Neurology
Lina Gomez, Santiago Diaz-Torres, Lucia Colodro-Conde, Luis M. Garcia-Marin, Chloe X. Yap, Enda M. Byrne, Loic Yengo, Penelope A. Lind, Naomi R. Wray, Sarah E. Medland, Ian B. Hickie, Michelle K. Lupton, Miguel E. Renteria, Nicholas G. Martin, Adrian Campos
Summary: The study finds that samples used in genetic research may be subject to ascertainment and attrition biases. The Australian Genetics of Depression Study reveals that older, male participants with higher education are more likely to donate saliva samples, while self-reported mental disorders are associated with lower odds of sample donation. Furthermore, male and younger participants are more likely to agree to record linkage, and participants with higher neuroticism scores and a history of bipolar disorder are also more likely to agree, whereas those with a diagnosis of anorexia are less likely to agree.
EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE
(2023)
Article
Multidisciplinary Sciences
Kaile Zhou, Yi-Ju Li, Erik J. Soderblom, Alexander Reed, Vaibhav Jain, Shuming Sun, M. Arthur Moseley, Virginia Byers Kraus
Summary: This study aimed to identify blood markers for predicting clinically relevant knee osteoarthritis (OA) progression over 48 months. A set of 15 serum proteomic markers corresponding to 13 proteins showed a high accuracy (73% AUC) in differentiating progressors from nonprogressors in a cohort of 596 knee OA patients. The predictive power of these blood markers was superior to traditional methods and the current best-in-class biomarker for OA progression. The findings were also confirmed in a second cohort of 86 individuals, further validating the generalizability of the marker set.
Letter
Ophthalmology
Louis Stevenson, Magdalena Blaszkowska, Angus Turner, David A. Mackey
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2023)
Letter
Ophthalmology
Samantha S. Y. Lee, Nigel McArdle, Bhajan Singh, David A. Mackey
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2023)
Article
Obstetrics & Gynecology
Isabelle M. McGrath, Grant W. Montgomery, Sally Mortlock
Summary: The relationship between endometriosis and other traits has been assessed through genetic studies using Mendelian randomization and genetic correlation analysis. The findings suggest a genetic overlap between endometriosis and multiple traits, indicating the involvement of various biological mechanisms. These studies provide insight into risk factors for diagnosis and treatment improvement.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Obstetrics & Gynecology
Fiona L. Cousins, Brett D. McKinnon, Sally Mortlock, Harriet C. Fitzgerald, Chenyu Zhang, Grant W. Montgomery, Caroline E. Gargett
Summary: Endometriosis is a serious and chronic condition where tissue similar to the lining of the uterus grows outside of it, leading to severe pelvic pain and infertility. It affects 11% of women and has multiple causes, with retrograde menstruation being a major factor. There is a genetic component to endometriosis, with over 40 genetic risk factors identified, although their specific mechanisms are still being understood.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH
(2023)
Correction
Genetics & Heredity
Catherine B. Doust, Pierre P. Fontanillas, Else F. Eising, Scott R. Gordon, Zhengjun K. Wang, Goekberk G. Alagoz, Barbara C. Molz, Beate D. St Pourcain, Clyde J. Francks, Riccardo E. G. Marioni, Jinging Zhao, Silvia C. Paracchini, Joel B. E. Talcott, Anthony P. Monaco, John DeFries, Bruce Pennington, Shelley Smith, Margaret Wright, Nicholas Martin, Timothy Bates, Simon Fisher, Michelle Luciano
Article
Medicine, General & Internal
Rosie Clark, Samantha Sze-Yee Lee, Ran Du, Yining Wang, Sander C. M. Kneepkens, Jason Charng, Yu Huang, Michael L. Hunter, Chen Jiang, J. Willem L. Tideman, Ronald B. Melles, Caroline C. W. Klaver, David A. Mackey, Cathy Williams, Helene Choquet, Kyoko Ohno-Matsui, Jeremy A. Guggenheim
Summary: This study aimed to predict the risk of high myopia (HM) through an improved polygenic score (PGS) and test if the PGS is predictive of myopic macular degeneration (MMD) after considering refractive error. The study found that PGS can predict the risk of HM in Europeans, but its predictive ability is weaker in other populations.
Article
Medicine, General & Internal
Santiago Diaz-Torres, Weixiong He, Jackson Thorp, Sahba Seddighi, Sean Mullany, Pirro G. IGGC Int Glaucoma Genetics Consortium, Christopher J. Hammond, Pirro G. Hysi, Louis R. Pasquale, Anthony P. Khawaja, Alex W. Hewitt, Jamie E. Craig, David A. Mackey, Janey L. Wiggs, Cornelia van Duijn, Michelle K. Lupton, Jue-Sheng Ong, Stuart MacGregor, Puya Gharahkhani
Summary: This study reveals a genetic overlap and causal relationship between primary open-angle glaucoma (POAG) and neurodegenerative disorders, but does not find strong evidence of a causal association between these traits. It also identifies some genetic overlaps and shared risk loci, suggesting a potential shared genetic risk between glaucoma and neurodegenerative disorders. Despite some similarities at the genetic level, the neurodegenerative process of glaucoma appears to be distinct from that of neurodegenerative diseases.
Article
Ophthalmology
Rajya L. Gurung, Liesel M. FitzGerald, Ebony Liu, Bennet J. McComish, Georgia Kaidonis, Bronwyn Ridge, Alex W. Hewitt, Brendan J. Vote, Nitin Verma, Jamie E. Craig, Kathryn P. Burdon
Summary: This study aimed to identify factors influencing the outcomes of intravitreal anti-vascular endothelial growth factor (anti-VEGF) treatment for diabetic macular edema (DME) in real-world practice. The study found that higher baseline best corrected visual acuity (BCVA) and longer duration of diabetic retinopathy were negative predictors for BCVA response, while Aflibercept treatment and a positive early functional response were positive predictors. Higher baseline central macular thickness (CMT) and early anatomical response were predictors for greater reduction in CMT. Overall, the variables could only predict 23% of BCVA response and 52% of CMT response.
INTERNATIONAL JOURNAL OF RETINA AND VITREOUS
(2023)
Article
Ophthalmology
Danit G. Saks, Angela Schulz, Ayub Qassim, Henry Marshall, Alex W. Hewitt, Stuart Macgregor, Jamie E. Craig, Stuart L. Graham
Summary: Individuals with a higher genetic risk of glaucoma are more likely to have retinal vascular defects and structural glaucomatous loss, but this is not related to systemic cardiovascular risk.
ACTA OPHTHALMOLOGICA
(2023)
Article
Dermatology
Nirmala Pandeya, Jean Claude Dusingize, Catherine M. Olsen, Stuart Macgregor, Rachel E. Neale, Matthew H. Law, David C. Whiteman
Summary: Genetic risk is weakly associated with melanoma incidence and screening behavior, but it does not explain the higher rate of melanoma detection between screened and unscreened individuals.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Multidisciplinary Sciences
Mark M. Hassall, Shari Javadiyan, Sonja Klebe, Mona S. Awadalla, Shiwani Sharma, Ayub Qassim, Melissa White, Paul Q. Thomas, Jamie E. Craig, Owen M. Siggs
Summary: Nanophthalmos is characterized by shorter eye segments, high hyperopia, and glaucoma. Variants in TMEM98 have been linked to the condition, and a study using mice with the same variant found ocular phenotypes and retinal abnormalities. The study suggests that TMEM98 may play a primary role in the structure and integrity of the retina and sclera in nanophthalmos.
SCIENTIFIC REPORTS
(2023)
Article
Medicine, General & Internal
Puya Gharahkhani, Weixiong He, Santiago Diaz Torres, Yeda Wu, Nathan Ingold, Regina Yu, Mathias Seviiri, Jue-Sheng Ong, Matthew H. Law, Jamie E. Craig, David A. Mackey, Alex W. Hewitt, Stuart MacGregor
Summary: The Genetics of Glaucoma Study (GOGS) was established to identify disease genes, improve genetic prediction of glaucoma risk, and study the response to treatment. Over 5700 participants with glaucoma or a family history of glaucoma were recruited, providing medical history information and DNA samples for research.