Article
Pharmacology & Pharmacy
Yunqing Ren, Ling Wang, Huatuo Dai, Guiying Qiu, Jipeng Liu, Dianhe Yu, Jianjun Liu, Cheng-Zhi Lyu, Lunfei Liu, Min Zheng
Summary: By conducting a genome-wide association study, we identified seven genetic biomarkers that are associated with the response to TNF-alpha inhibitors in Chinese psoriasis patients. These findings contribute to our understanding of the variability in treatment response and may serve as potential markers for personalized therapy.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Clinical Neurology
Amit Kumar, Ganesh Chauhan, Shriram Sharma, Surekha Dabla, P. N. Sylaja, Neera Chaudhary, Salil Gupta, Chandra Sekhar Agrawal, Kuljeet Singh Anand, Achal Kumar Srivastava, Deepti Vibha, Ram Sagar, Ritesh Raj, Ankita Maheshwari, Subbiah Vivekanandhan, Bhavna Kaul, Samudrala Raghavan, Sankar Prasad Gorthi, Dheeraj Mohania, Samander Kaushik, Rohtas Kanwar Yadav, Anjali Hazarika, Pankaj Sharma, Kameshwar Prasad
Summary: The GWAS study in an Indian population identified novel loci for stroke and replicated previously known loci. The study showed that modifiable risk factors such as hypertension, smoking, and alcohol consumption have the highest effect on stroke.
Article
Immunology
William T. Connell, Julie Hong, Wilson Liao
Summary: Genetic factors, including rs35569429 and HLA-C*06:02, are associated with the response to ustekinumab therapy in psoriasis. The presence of the deletion allele of rs35569429 and being HLA-C*06:02 negative are associated with a lower treatment response rate.
FRONTIERS IN IMMUNOLOGY
(2022)
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
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
Biochemistry & Molecular Biology
Dongli Zhu, Shi Yao, Hao Wu, Xin Ke, Xiaorong Zhou, Songmei Geng, Shanshan Dong, Hao Chen, Tielin Yang, Ying Cheng, Yan Guo
Summary: A transcriptome-wide association study identified multiple novel candidate genes associated with psoriasis, which were further validated through public databases and knockout mice models. These genes were found to be enriched in known GO terms related to skin development, providing valuable insights into the genetic mechanism of psoriasis.
HUMAN MOLECULAR GENETICS
(2022)
Article
Multidisciplinary Sciences
Peitao Wu, Biqi Wang, Steven A. Lubitz, Emelia J. Benjamin, James B. Meigs, Josee Dupuis
Summary: This study proposes an approximate conditional phenotype analysis method based on GWAS summary statistics, covariance between traits, and variant minor allele frequency. The method shows high consistency and accuracy in estimating genetic effect size compared to individual level data analysis, providing an efficient way to perform conditional analysis using large-scale GWAS summary statistics.
SCIENTIFIC REPORTS
(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
Immunology
Ning Gao, Minjian Kong, Xuebiao Li, Xian Zhu, Dongdong Wei, Ming Ni, Yifan Wang, Ze Hong, Aiqiang Dong
Summary: This study used Mendelian randomization to evaluate the potential causal relationship between psoriasis and cardiovascular disease. The results showed that psoriasis is associated with heart failure, atrial fibrillation, myocardial infarction, valvular heart disease, and large artery stroke, but not with cardioembolic stroke and small vessel stroke.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Multidisciplinary Sciences
Abbas Dehghan, Rui Climaco Pinto, Ibrahim Karaman, Jian Huang, Brenan R. Durainayagam, Mohsen Ghanbari, Areesha Nazeer, Qi Zhong, Sonia Liggi, Luke Whiley, Rima Mustafa, Miia Kivipelto, Alina Solomon, Tiia Ngandu, Takahisa Kanekiyo, Tomonori Aikawa, Carola I. Radulescu, Samuel J. Barnes, Goncalo Graca, Elena Chekmeneva, Stephane Camuzeaux, Matthew R. Lewis, Manuja R. Kaluarachchi, M. Arfan Ikram, Elaine Holmes, Ioanna Tzoulaki, Paul M. Matthews, Julian L. Griffin, Paul Elliott
Summary: Genome-wide association studies have identified genetic loci associated with the risk of Alzheimer's disease (AD). In this study, we used metabolomics to investigate the molecular mechanisms underlying these associations. We found an association between lactosylceramides and AD-related single-nucleotide polymorphisms in the ABCA7 gene. We also observed altered concentrations of certain lipids in brain tissue from knockout mice, suggesting that these lipid abnormalities may contribute to the risk of AD.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Biochemistry & Molecular Biology
Anna Kisielnicka, Marta Sobalska-Kwapis, Dorota Purzycka-Bohdan, Boguslaw Nedoszytko, Monika Zablotna, Michal Seweryn, Dominik Strapagiel, Roman J. Nowicki, Adam Reich, Dominik Samotij, Justyna Szczech, Dorota Krasowska, Joanna Bartosinska, Joanna Narbutt, Aleksandra Lesiak, Paulina Barasinska, Agnieszka Owczarczyk-Saczonek, Joanna Czerwinska, Jacek C. Szepietowski, Aleksandra Batycka-Baran, Rafal Czajkowski, Magdalena Gorecka-Sokolowska, Lidia Rudnicka, Joanna Czuwara, Aneta Szczerkowska-Dobosz
Summary: This study used a Genome-Wide Association Study (GWAS) to compare the genetic background related to obesity among psoriatic patients and healthy controls. The results identified several genetic signals associated with BMI in psoriatic patients and provided insights into the understanding of the pathogenesis of obesity among this group.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Fisheries
Wenchao Yu, Shihai Gong, Yisha Lu, Yawei Shen, Junyu Liu, Zekun Huang, Xuan Luo, Weiwei You, Caihuan Ke
Summary: In this study, a genome-wide association study (GWAS) was conducted to explore the genetic basis of feed efficiency (FE) traits in Pacific abalone. Significant SNPs associated with feed efficiency ratio (FER) and residual feed intake (RFI) were identified, and candidate genes involved in biological processes related to FER and RFI were identified. Furthermore, an overlapped gene associated with RFI was identified through comparative transcriptomic analyses. This study provides valuable insights into the genetics of abalone FE and offers potential SNPs for molecular marker selection and breeding.
Article
Plant Sciences
Caroline Ariyoshi, Gustavo Cesar Sant'ana, Mariane Silva Felicio, Gustavo Hiroshi Sera, Livia Maria Nogueira, Lucas Mateus Rivero Rodrigues, Rafaelle Vecchia Ferreira, Bruna Silvestre Rodrigues da Silva, Mario Lucio Vilela de Resende, Suzete Aparecida Lanza Destefano, Douglas Silva Domingues, Luiz Filipe Protasio Pereira
Summary: Bacteria halo blight, caused by Pseudomonas syringae pv. garcae, is a significant disease in coffee plants, particularly in mountain regions and mild climate areas. This study focused on identifying genetic factors associated with resistance to this disease in Ethiopian accessions of Coffea arabica. The research utilized population structure analysis and genome-wide association study (GWAS) to identify quantitative trait nucleotides (QTNs) linked to resistance. The findings provide valuable insights into the genetic control of resistance to bacteria halo blight in Coffea arabica and contribute to the understanding of the domestication history of this species.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Plant Sciences
Xiongwei Li, Jiabo Wang, Mingshen Su, Jingyi Zhou, Minghao Zhang, Jihong Du, Huijuan Zhou, Kexin Gan, Jing Jin, Xianan Zhang, Ke Cao, Weichao Fang, Lirong Wang, Huijuan Jia, Zhongshan Gao, Zhengwen Ye
Summary: In this study, a comprehensive approach of genome-wide association study (GWAS) and comparative transcriptome was used to investigate the genetic architecture associated with peach gummosis disease. By studying 195 accessions and 145,456 SNPs, it was found that 5 SNPs were significantly associated with disease resistance and 6 candidate genes were identified. Additionally, two highly resistant accessions were identified as potential sources for breeding.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Clinical Neurology
Yan Sun, Chengchen Li, Qin Hui, Yunfeng Huang, Richard Barbano, Ramon Rodriguez, Irene A. Malaty, Stephen Reich, Kimberly Bambarger, Katie Holmes, Joseph Jankovic, Neepa J. Patel, Emmanuel Roze, Marie Vidailhet, Brian D. Berman, Mark S. LeDoux, Alberto J. Espay, Pinky Agarwal, Sarah Pirio-Richardson, Samuel A. Frank, William G. Ondo, Rachel Saunders-Pullman, Sylvain Chouinard, Stover Natividad, Alfredo Berardelli, Alexander Y. Pantelyat, Allison Brashear, Susan H. Fox, Meike Kasten, Ulrike M. Kraemer, Miriam Neis, Tobias Baeumer, Sebastian Loens, Max Borsche, Simone Zittel, Antonia Maurer, Mathias Gelderblom, Jens Volkmann, Thorsten Odorfer, Andrea A. Kuehn, Friederike Borngraeber, Inke R. Koenig, Carlos Cruchaga, Adam C. Cotton, Gamze Kilic-Berkmen, Alan Freeman, Stewart A. Factor, Laura Scorr, J. Douglas Bremner, Viola Vaccarino, Arshed A. Quyyumi, Christine Klein, Joel S. Perlmutter, Katja Lohmann, Hyder A. Jinnah
Summary: The study identified a significant genetic variant associated with cervical dystonia and a gene significantly associated with the disorder. However, the genetic basis of cervical dystonia is complex and may involve multiple variants of small effect sizes, suggesting that larger sample sizes are needed for a more comprehensive understanding of the condition's genetic underpinnings.
MOVEMENT DISORDERS
(2021)
Article
Rheumatology
Young Ho Lee Md, Gwan Gyu Song
Summary: This study aimed to compare the relative efficacy and safety of infliximab and its biosimilars in patients with active rheumatoid arthritis (RA) who showed an inadequate response to methotrexate (MTX). A Bayesian network meta-analysis was conducted, combining direct and indirect evidence from randomized controlled trials (RCTs) to compare the efficacy and safety of infliximab biosimilars and the originator product in this patient population. The results showed that there were no significant differences in ACR20 response rates and serious adverse events (SAEs) between infliximab biosimilars and the originator.
ZEITSCHRIFT FUR RHEUMATOLOGIE
(2023)
Article
Rheumatology
Young Ho Lee, Gwan Gyu Song
Summary: This study compared the effectiveness and safety of voclosporin + MMF, tacrolimus + MMF, and monotherapy for induction treatment in lupus nephritis patients. The results showed that tacrolimus + MMF and voclosporin + MMF were more effective than monotherapy, with tacrolimus + MMF being the most effective. However, tacrolimus + MMF had a higher risk of serious adverse events compared to monotherapy.
ZEITSCHRIFT FUR RHEUMATOLOGIE
(2023)
Article
Rheumatology
Yoon-Kyoung Sung, Young Ho Lee
Summary: This study evaluated the frequency and magnitude of placebo and nocebo responses in patients with rheumatoid arthritis (RA) who had an insufficient response to tumor necrosis factor (TNF) inhibitors and were treated with non-TNF biologics and Janus kinase (JAK) inhibitors. The results showed that JAK inhibitors had higher placebo effects and less nocebo effects compared to non-TNF inhibitors in this group of patients. The study also found a positive correlation between placebo response and treatment response, and a negative correlation between placebo response and adverse effects.
ZEITSCHRIFT FUR RHEUMATOLOGIE
(2023)
Article
Rheumatology
Yoon-Kyoung Sung, Young Ho Lee
Summary: This study examined the impact of negative expectations associated with receiving a placebo (the lessebo effect) on efficacy outcomes in randomized clinical trials (RCTs) of rituximab in patients with rheumatoid arthritis (RA). The results demonstrated that the use of a placebo was associated with a clinically significant reduction in the magnitude of change of the ACR20, 50, 70 response rates in rituximab RCTs for RA. This has potential implications for the development of new treatments and appraisal of current treatment options for RA.
ZEITSCHRIFT FUR RHEUMATOLOGIE
(2023)
Review
Pharmacology & Pharmacy
Young Ho Lee, Gwan Gyu Song
Summary: This study assessed the relative efficacy and safety of various biological agents used in induction therapy for lupus nephritis. The results showed that low-dose IL-2, obinutuzumab, rituximab, and belimumab had higher complete remission rates and lower risk of serious adverse events compared to the control, indicating their superiority as treatments for lupus nephritis.
Article
Dermatology
Young Ho Lee, Gwan Gyu Song
Summary: This study found a correlation between VDR ApaI and BsmI polymorphisms and vitiligo susceptibility in the Asian population, while no association was observed for TaqI and FokI polymorphisms in European, Asian, Arab, and Latin American populations.
JOURNAL OF COSMETIC DERMATOLOGY
(2023)
Article
Genetics & Heredity
Young Ho Lee, Gwan Gyu Song
Summary: This study aimed to determine the association between IL17 polymorphisms and susceptibility to asthma. Meta-analyses of studies reporting IL17 polymorphisms in patients with asthma and healthy controls were conducted. The results showed that the CC genotype of IL17A rs8193036 is associated with asthma susceptibility.
INTERNATIONAL JOURNAL OF IMMUNOGENETICS
(2023)
Article
Rheumatology
Young Ho Lee, Gwan Gyu Song
Summary: This study compared the efficacy and tolerability of IL-6 and JAK inhibitor therapies with adalimumab in patients with RA and inadequate responses to MTX. The results showed that IL-6 and JAK inhibitors were more effective in achieving ACR20 response rate compared to adalimumab. However, adalimumab was associated with lower risk of serious adverse events.
ZEITSCHRIFT FUR RHEUMATOLOGIE
(2023)
Article
Rheumatology
Young Ho Lee, Gwan Gyu Song
Summary: This study compared the efficacy and safety of tacrolimus and mycophenolate mofetil (MMF) as induction therapy for lupus nephritis (LN). The results showed that there was no difference between tacrolimus and MMF in terms of complete or partial remission rates. However, tacrolimus had a lower incidence of herpes zoster infection and a higher risk of serum creatinine elevation compared to MMF. Overall, 3 mg/d tacrolimus was proven to be an effective and safe treatment for LN.
ZEITSCHRIFT FUR RHEUMATOLOGIE
(2023)
Article
Rheumatology
Young Ho Lee, Gwan Gyu Song
Summary: This study aimed to investigate the association between TLR9 polymorphisms and susceptibility to SLE. The results showed that the rs187084 polymorphism was associated with SLE risk in the Asian population, while the rs352139, rs352140, and rs5743836 polymorphisms were associated with SLE risk in the Asian, European, and Latin American populations, respectively.
Review
Genetics & Heredity
Young Ho Lee, Gwan Gyu Song
Summary: This study investigated the association between the functional Fc gamma receptor 3A (FCGR3A) V158F and FCGR2A R131H polymorphisms and responsiveness to rituximab therapy in patients with autoimmune diseases. The meta-analysis revealed a significant association between the FCGR3A V allele and responsiveness to rituximab, while no association was found for FCGR2A R131H polymorphism.
PHARMACOGENOMICS JOURNAL
(2023)
Article
Rheumatology
Young Ho Lee, Gwan Gyu Song
Summary: This study investigated the association between leptin levels in the blood of individuals with rheumatoid arthritis (RA) and the severity of the disease. The results showed that RA patients had elevated leptin levels, which were correlated with the activity of RA. These findings suggest that leptin plays a significant role in the pathophysiology of RA.
JOURNAL OF RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Ahreum Kim, Sung Jae Choi, Gwan Gyu Song, Joo-Hang Kim, Jae Hyun Jung
Summary: This study aimed to identify differentially expressed genes (DEGs) of systemic lupus erythematosus (SLE) using gene expression-based computational methodologies. A total of 39 upregulated genes and 57 downregulated genes were identified in SLE patients compared to healthy controls. These DEGs were implicated in immune response pathways and were also associated with various virus infections. Additionally, certain genes were found to be closely associated with the quantities of immune cells.
CLINICAL RHEUMATOLOGY
(2023)
Article
Pharmacology & Pharmacy
Young Ho Lee, Gwan Gyu Song
Summary: This study compares the efficacy of different medications in treating rheumatoid arthritis, and finds that Upadacitinib has the highest likelihood of achieving remission and low disease activity in DMARD-naive patients. There are also differences in remission and LDA rates induced by different JAK inhibitors.
Article
Rheumatology
Young Ho Lee, Gwan Gyu Song
Summary: According to this meta-analysis, neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) can be regarded as general markers of inflammation. Behcet's disease (BD) patients have higher NLR and PLR compared to healthy controls.
ZEITSCHRIFT FUR RHEUMATOLOGIE
(2023)