Article
Clinical Neurology
Hang-Rai Kim, Sang-Hyuk Jung, Jaeho Kim, Hyemin Jang, Sung Hoon Kang, Song Hwangbo, Jun Pyo Kim, So Yeon Kim, Beomsu Kim, Soyeon Kim, Jee Hyang Jeong, Soo Jin Yoon, Kyung Won Park, Eun-Joo Kim, Bora Yoon, Jae-Won Jang, Jin Yong Hong, Seong Hye Choi, Young Noh, Ko Woon Kim, Si Eun Kim, Jin San Lee, Na-Yeon Jung, Juyoun Lee, Byeong C. Kim, Sang Joon Son, Chang Hyung Hong, Duk L. Na, Sang Won Seo, Hong-Hee Won, Hee Jin Kim
Summary: This study identified novel genetic variants associated with a decreased risk of A beta positivity in the Korean population, providing a potential therapeutic target for AD and emphasizing the importance of genetic studies in diverse populations.
ALZHEIMERS RESEARCH & THERAPY
(2021)
Article
Multidisciplinary Sciences
Abbas Saad Alatrany, Wasiq Khan, Abir Hussain, Dhiya Al-Jumeily
Summary: The increasing incidence of Alzheimer's disease (AD) poses socioeconomic challenges. In this study, a hybrid feature selection approach and neural network models are used to predict AD. The approach outperformed existing methods with 99% accuracy and f1-score, providing impactful outcomes for other chronic diseases.
Article
Mathematical & Computational Biology
An Zeng, Huabin Rong, Dan Pan, Longfei Jia, Yiqun Zhang, Fengyi Zhao, Shaoliang Peng
Summary: This study advocates for a data-driven approach by integrating CNN and EL with GA, proposing the CNN-EL-GA method to identify potential neuroimaging and genetic biomarkers for Alzheimer's disease and other brain disorders. This method overcomes limitations related to subjective factors and dependence on prior knowledge, adaptively achieving more robust and effective candidate biomarkers.
INTERDISCIPLINARY SCIENCES-COMPUTATIONAL LIFE SCIENCES
(2021)
Article
Genetics & Heredity
Adrian I. Campos, Shinichi Namba, Shu-Chin Lin, Kisung Nam, Julia Sidorenko, Huanwei Wang, Yoichiro Kamatani, Ling-Hua Wang, Seunggeun Lee, Yen-Feng Lin, Yen-Chen Anne Feng, Yukinori Okada, Peter M. Visscher, Loic Yengo
Summary: Simulations and applications to real data show that adjustment of genome-wide association analyses for polygenic scores increases the statistical power for discovery across all ancestries, suggesting an analytical strategy for future studies in underrepresented populations.
Article
Clinical Neurology
Longfei Jia, Fangyu Li, Cuibai Wei, Min Zhu, Qiumin Qu, Wei Qin, Yi Tang, Luxi Shen, Yanjiang Wang, Lu Shen, Honglei Li, Dantao Peng, Lan Tan, Benyan Luo, Qihao Guo, Muni Tang, Yifeng Du, Jiewen Zhang, Junjian Zhang, Jihui Lyu, Ying Li, Aihong Zhou, Fen Wang, Changbiao Chu, Haiqing Song, Liyong Wu, Xiumei Zuo, Yue Han, Junhua Liang, Qi Wang, Hongmei Jin, Wei Wang, Yang Lu, Fang Li, Yuying Zhou, Wei Zhang, Zhengluan Liao, Qiongqiong Qiu, Yan Li, Chaojun Kong, Haishan Jiao, Jie Lu, Jianping Jia
Summary: This study validated predictive models based on genome-wide association studies for assessing the risk of Alzheimer's disease onset in a large Chinese population. These models effectively predicted Alzheimer's disease onset in individuals carrying risk variants, confirming the contribution of these identified variants to disease pathogenesis.
Article
Multidisciplinary Sciences
Ming-Yue Zhang, Cheng Xue, Hongju Hu, Jiaming Li, Yongsong Xue, Runze Wang, Jing Fan, Cheng Zou, Shutian Tao, Mengfan Qin, Bing Bai, Xiaolong Li, Chao Gu, Shan Wu, Xu Chen, Guangyan Yang, Yueyuan Liu, Manyi Sun, Zhangjun Fei, Shaoling Zhang, Jun Wu
Summary: This study conducted genome-wide association studies to identify loci associated with fruit quality and phenological traits in pear, revealing continuous selection pressure on important traits during breeding. The candidate gene PbrSTONE was functionally verified to play a key role in regulating stone cell formation, a critical fruit quality trait in pear.
NATURE COMMUNICATIONS
(2021)
Article
Computer Science, Artificial Intelligence
Meiyan Huang, Haoran Lai, Yuwei Yu, Xiumei Chen, Tao Wang, Qianjin Feng
Summary: A novel GWAS method was proposed to accurately detect relevant biomarkers and establish a link between AD and genetic data to detect potential AD biomarkers.
MEDICAL IMAGE ANALYSIS
(2021)
Article
Health Care Sciences & Services
Zulfan Zazuli, Corine de Jong, Wei Xu, Susanne J. H. Vijverberg, Rosalinde Masereeuw, Devalben Patel, Maryam Mirshams, Khaleeq Khan, Dangxiao Cheng, Bayardo Ordonez-Perez, Shao Hui Huang, Anna Spreafico, Aaron R. Hansen, David P. Goldstein, John R. de Almeida, Scott V. Bratman, Andrew Hope, Jennifer J. Knox, Rebecca K. S. Wong, Gail E. Darling, Abhijat Kitchlu, Simone W. A. van Haarlem, Femke van der Meer, Anne S. R. van Lindert, Alexandra ten Heuvel, Jan Brouwer, Colin J. D. Ross, Bruce C. Carleton, Toine C. G. Egberts, Gerarda J. M. Herder, Vera H. M. Deneer, Anke H. Maitland-van der Zee, Geoffrey Liu
Summary: This study identified a specific variant of the BACH2 gene that may play an important role in cisplatin-induced nephrotoxicity, suggesting opportunities for mechanistic research, tailored therapy, and preventive strategies related to this pathology.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Agriculture, Dairy & Animal Science
G. Sahana, Z. Cai, M. P. Sanchez, A. C. Bouwman, D. Boichard
Summary: Genotype data from dairy cattle selection programs greatly facilitate GWAS to identify variants related to economic traits. Results can enhance the accuracy of genomic prediction, analyze more complex models, elucidate the genetic architecture of a trait, and decipher the underlying biology of traits.
JOURNAL OF DAIRY SCIENCE
(2023)
Article
Genetics & Heredity
Hye-Won Cho, Hyun-Seok Jin, Yong-Bin Eom
Summary: Most previous GWAS studies on anthropometric traits focused on European populations, while this study involving Korean individuals identified new genetic factors associated with these traits. Comparisons with previous studies revealed novel loci and unique genetic variants specific to the Asian population. These findings contribute to a better understanding of the genetic effects on anthropometric phenotypes in East Asians.
FRONTIERS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Declan Bennett, Donal O'Shea, John Ferguson, Derek Morris, Cathal Seoighe
Summary: With the ongoing expansion of human genotype and phenotype collections, there is potential for enhanced comprehension of the genetics underlying complex diseases, as well as the ability to predict complex traits and genetic disease risk from genotype data. Advances in phenotype prediction can boost the effectiveness of genome-wide association studies by improving control of background genetic effects, resulting in more precise identification and prediction of trait-associated variants.
SCIENTIFIC REPORTS
(2021)
Article
Statistics & Probability
Bingxin Zhao, Hongtu Zhu
Summary: The study investigates and addresses the bias phenomenon of cross-trait PRS in numerous GWAS applications and proposes a consistent estimator to correct the bias. Results show that the bias-corrected estimators uncover a moderate degree of genetic overlap between cognitive function and human brain structures.
JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION
(2022)
Article
Medicine, General & Internal
Hyun-Ju An, Jae-Hwa Kim, Siyeong Yoon, Junwon Choi, Jeongmo Koo, Soonchul Lee
Summary: This study aimed to identify specific genes or genetic variants associated with rotator cuff tears through a genome-wide association study. More than 20 significantly associated SNPs were found. However, the study was limited by the small sample size and requires further validation. Nevertheless, the identification of potential genetic variants related to rotator cuff injury would aid in the early detection of individuals at risk and provide insight into future gene therapies.
Review
Immunology
Rochi Saurabh, Cesaire J. K. Fouodo, Inke R. R. Konig, Hauke Busch, Inken Wohlers
Summary: This paper reviews current publicly available GWAS and PGS data on autoimmune diseases, summarizes the diseases investigated and the respective studies conducted, and provides an overview of the genetic data and autoimmune disease patients in the UK Biobank. The study finds that only the more prevalent autoimmune diseases are covered by both GWAS and PGS catalogs in the UK Biobank.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Plant Sciences
Darlene L. Sanchez, Stanley Omar PB. Samonte, Lloyd T. Wilson
Summary: This study characterized the phenotypic variation of head rice and chalky grain percentages in a diverse collection of rice accessions and identified SNP markers and candidate genes associated with these traits. The study found significant variations in head rice and chalky grain percentages between rice accessions. Multiple SNPs were identified as significantly associated with head rice and chalky grain percentages in different chromosomes. The findings contribute to the understanding of the genetic basis of grain quality traits in rice.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Clinical Neurology
Tingting Wang, Kevin Huynh, Corey Giles, Natalie A. Mellett, Thy Duong, Anh Nguyen, Wei Ling Florence Lim, Alex A. T. Smith, Gavriel Olshansky, Gemma Cadby, Joseph Hung, Jennie Hui, John Beilby, Gerald F. Watts, Pratishtha Chatterjee, Ian Martins, Simon M. Laws, Ashley Bush, Christopher C. Rowe, Victor L. Villemagne, David Ames, Colin L. Masters, Kevin Taddei, Vincent Dore, Juergen Fripp, Matthias Arnold, Gabi Kastenmueller, Kwangsik Nho, Andrew J. Saykin, Rebecca Baillie, Xianlin Han, Ralph N. Martins, Eric K. Moses, Rima Kaddurah-Daouk, Peter J. Meikle
Summary: The APOE genotype is strongly associated with late-onset Alzheimer's disease, with specific lipid species mediating up to 30% and 10% of the treatment effect of APOE epsilon 2 and epsilon 4, respectively. Plasma lipid species represent a potential therapeutic target for Alzheimer's disease.
ALZHEIMERS & DEMENTIA
(2022)
Article
Clinical Neurology
Duygu Tosun, Zeynep Demir, Dallas P. Veitch, Daniel Weintraub, Paul Aisen, Clifford R. Jack, William J. Jagust, Ronald C. Petersen, Andrew J. Saykin, Leslie M. Shaw, John Q. Trojanowski, Michael W. Weiner
Summary: Aβ, tau, and neurodegeneration have significant impacts on cognitive impairment and cognitive decline, while AD risk factors also play an important role in affecting disease progression.
ALZHEIMERS & DEMENTIA
(2022)
Article
Clinical Neurology
Emrin Horgusluoglu, Ryan Neff, Won-Min Song, Minghui Wang, Qian Wang, Matthias Arnold, Jan Krumsiek, Beatriz Galindo-Prieto, Chen Ming, Kwangsik Nho, Gabi Kastenmueller, Xianlin Han, Rebecca Baillie, Qi Zeng, Shea Andrews, Haoxiang Cheng, Ke Hao, Alison Goate, David A. Bennett, Andrew J. Saykin, Rima Kaddurah-Daouk, Bin Zhang
Summary: This study aims to identify AD-specific metabolomic changes and their potential upstream genetic and transcriptional regulators through an integrative systems biology framework. The findings suggest that short-chain acylcarnitines/amino acids and medium/long-chain acylcarnitines are most associated with AD clinical outcomes. Integration of gene expression data reveals ABCA1 and CPT1A are involved in regulating acylcarnitines and amino acids in AD.
ALZHEIMERS & DEMENTIA
(2022)
Article
Oncology
Brent J. Small, Marie Lange, Wanting Zhai, Jaeil Ahn, Tim A. Ahles, Judith E. Carroll, Harvey J. Cohen, Deena Graham, Martine Extermann, Natacha Heutte, Heather S. L. Jim, Brenna C. McDonald, Sunita K. Patel, James C. Root, Andrew J. Saykin, Kathleen Van Dyk, Xingtao Zhou, Jeanne Mandelblatt, Florence Joly
Summary: Pooled individual-level data from two large prospective studies of older breast cancer survivors showed that older women who received taxane-based chemotherapy did not experience greater declines in cognitive performance or well-being compared to women receiving other chemotherapy regimens. Despite being at greater risk for negative outcomes, treatment with taxane-based chemotherapies did not exacerbate these health consequences for older cancer survivors.
BREAST CANCER RESEARCH AND TREATMENT
(2022)
Article
Endocrinology & Metabolism
Lincoln M. P. Shade, Yuriko Katsumata, Timothy J. Hohman, Kwangsik Nho, Andrew J. Saykin, Shubhabrata Mukherjee, Kevin L. Boehme, John S. K. Kauwe, Lindsay A. Farrer, Gerard D. Schellenberg, Jonathan L. Haines, Richard P. Mayeux, Julie A. Schneider, Peter T. Nelson, David W. Fardo
Summary: This study identified putative loci associated with the risk of brain arteriolosclerosis (B-ASC) through a genome-wide association study. The findings provide clues for further understanding the genetic mechanism of B-ASC.
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM
(2022)
Article
Peripheral Vascular Disease
Isabel J. Sible, Daniel A. Nation
Summary: This study found that blood pressure variability (BPV) in older adults is related to tau accumulation in brain regions vulnerable to Alzheimer's disease, independent of average blood pressure levels. The relationship is modified by APOE ε4 carrier status. BPV may serve as a marker of vascular dysfunction contributing to early-stage tau pathology in Alzheimer's disease.
Article
Neurosciences
Jun Pyo Kim, Bo-Hyun Kim, Paula J. Bice, Sang Won Seo, David A. Bennett, Andrew J. Saykin, Kwangsik Nho
Summary: Through analysis of data from two independent cohorts, we found that DNA methylation alterations may be involved in Alzheimer's disease (AD), and identified 15 key CpG sites associated with AD pathology.
BIOLOGICAL PSYCHIATRY
(2023)
Review
Neuroimaging
Cecily G. Swinford, Shannon L. Risacher, Yu-Chien Wu, Liana G. Apostolova, Sujuan Gao, Paula J. Bice, Andrew J. Saykin
Summary: The prevalence of Alzheimer's disease in the U.S. is expected to reach 13 million by 2050. Currently, there are no treatments available to stop or reverse the progressive cognitive decline associated with the disease. Preventive treatment before significant cognitive decline occurs may be the solution, but there is a need for a reliable biomarker to identify older adults at highest risk. Quantitative cerebral blood flow shows promise as a potential early biomarker for Alzheimer's disease, but further research is needed to fully understand the patterns of altered blood flow.
BRAIN IMAGING AND BEHAVIOR
(2023)
Letter
Clinical Neurology
Jung-Min Pyun, Young Ho Park, Jiebiao Wang, Paula J. Bice, David A. Bennett, SangYun Kim, Andrew J. Saykin, Kwangsik Nho
ANNALS OF NEUROLOGY
(2023)
Article
Oncology
Kelly Nudelman, Kwangsik Nho, Michael Zhang, Brenna C. McDonald, Wanting Zhai, Brent J. Small, Claire E. Wegel, Paul B. Jacobsen, Heather S. L. Jim, Sunita K. Patel, Deena M. A. Graham, Tim A. Ahles, James C. Root, Tatiana Foroud, Elizabeth C. Breen, Judith E. Carroll, Jeanne S. Mandelblatt, Andrew J. Saykin
Summary: This study found that genetics may play an important role in modifying risk for cognitive decline in older female breast cancer survivors. Several genetic variants and genes were identified to be associated with differences in patterns of cognitive decline in cancer patients compared to controls. Further research and validation of these findings in other cancer populations is necessary to inform therapeutic research and evaluations of risk for cognitive decline in older cancer survivors.
Article
Cell Biology
Rafi Haque, Caroline M. Watson, Jiaqi Liu, E. Kathleen Carter, Duc M. Duong, James J. Lah, Aliza P. Wingo, Blaine R. Roberts, Erik C. B. Johnson, Andrew J. Saykin, Leslie M. Shaw, Nicholas T. Seyfried, Thomas S. Wingo, Allan I. Levey
Summary: This study developed a reliable and high-throughput mass spectrometry assay to detect 48 key proteins in cerebrospinal fluid (CSF), and found that this panel of proteins performed at least as well as existing biomarkers in predicting clinical diagnosis, brain imaging results, cognitive decline, and dementia severity in Alzheimer's disease. Combining this panel with existing biomarkers significantly improved diagnostic accuracy and prediction of disease progression.
SCIENCE TRANSLATIONAL MEDICINE
(2023)
Article
Genetics & Heredity
Thea J. Rosewood, Kwangsik Nho, Shannon L. Risacher, Sujuan Gao, Li Shen, Tatiana Foroud, Andrew J. Saykin
Summary: The genetic susceptibility for Alzheimer's disease (AD) is not fully understood. This study used an endophenotype approach to identify genetic associations and discovered novel genetic loci related to AD. These findings provide deeper insights into the genetic mechanisms underlying AD.
Article
Sport Sciences
Edward Simpson, Jill L. Reiter, Jie Ren, Zhiqi Zhang, Kelly N. Nudelman, Larry D. Riggen Jr, Michael D. Menser, Jaroslaw Harezlak, Tatiana M. Foroud, Andrew J. Saykin, Alison Brooks, Kenneth L. Cameron, Stefan M. Duma, Gerald Mcginty, Steven Rowson, Steven J. Svoboda, Steven P. Broglio, Michael A. McCrea, Paul F. Pasquina, Thomas W. Mcallister, Yunlong Liu, CARE Consortium Investigators
Summary: This study analyzed the gene expression changes in peripheral blood following concussion in collegiate athletes. The results showed immediate activation of cytokine and immune response signaling pathways, which later seemed to be suppressed. Additionally, the study found an increase in neutrophils and a decrease in natural killer cells in the blood following concussion.