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Recent advances in elucidating the genetics of Common Variable Immunodeficiency

Vaishali Aggarwal, Aaqib Zaffar Banday, Ankur Kumar Jindal, Jhumki Das, Amit Rawat
2019 Genes and Diseases  
A multi-omics approach integrating the DNA sequencing along with RNA sequencing, proteomics, epigenetic and metabolomics profile is the need of the hour to unravel specific CVID associated disease pathways  ...  In this review, we elaborate various techniques that have helped in understanding the genetics of CVID.  ...  Acknowledgments The authors would like to acknowledge Department of Pediatrics, Advanced Pediatrics Center, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh for providing  ... 
doi:10.1016/j.gendis.2019.10.002 pmid:32181273 pmcid:PMC7063417 fatcat:6gj27bttnfbvpk72dj2uvxldtm

Pharmacometabolomics-aided Pharmacogenomics in Autoimmune Disease

Theodora Katsila, Evangelia Konstantinou, Ioanna Lavda, Harilaos Malakis, Ioanna Papantoni, Lamprini Skondra, George P. Patrinos
2016 EBioMedicine  
Herein, we outline the paradigm of "pharmacometabolomics-aided pharmacogenomics" in autoimmune diseases.  ...  Inter-individual variability has been a major hurdle to optimize disease management. Precision medicine holds promise for improving health and healthcare via tailor-made therapeutic strategies.  ...  The Paradigm of Autoimmune Disease Autoimmune disease results from the incapacity of the immune system to discern endogenous substances from xenobiotics and affects 5% of the population in Western countries  ... 
doi:10.1016/j.ebiom.2016.02.001 pmid:27077110 pmcid:PMC4816847 fatcat:ksjntz6ikvapvcqw4ecn4anlai

Using GWAS to identify genetic predisposition in hepatic autoimmunity

G.J. Webb, G.M. Hirschfield
2016 Journal of Autoimmunity  
Finally we describe deficiencies in GWAS to date and consider future study of genetics in hepatic autoimmunity.  ...  Twin studies, family studies, population studies and an inter-relationship with other autoimmune phenomena suggest a genetic component to risk for each disease.  ...  The views expressed are those of the authors(s) and not necessarily those of the National Health System, the National Institute for Health Research, or the Department of Health.  ... 
doi:10.1016/j.jaut.2015.08.016 pmid:26347073 fatcat:bfib4bvjbrfqjjfzwqzbovemnu

Nature plus nurture: the triggering of multiple sclerosis

H Wekerle
2015 Swiss Medical Weekly  
A large number of risk genes favour an autoimmune response against the body's own brain matter.  ...  Recent clinical and experimental studies indicate that multiple sclerosis develops as consequence of a failed interplay between genetic ("nature") and environmental ("nurture") factors.  ...  Nature -genetics, epidemiology MS is often viewed as a disease of the temperate zones, a "White Man's disease". Indeed the disease is not evenly distributed over all continents and ethnicities.  ... 
doi:10.4414/smw.2015.14189 pmid:26430854 fatcat:2ufplght3be47hz2a3td2qggpu

Milestones in Personalized Medicine in Pemphigus and Pemphigoid

Katja Bieber, Khalaf Kridin, Shirin Emtenani, Katharina Boch, Enno Schmidt, Ralf J. Ludwig
2021 Frontiers in Immunology  
Pemphigus and pemphigoid diseases are autoimmune bullous diseases characterized and caused by autoantibodies targeting adhesion molecules in the skin and/or mucous membranes.  ...  Overall, we hereby aim to attract more researchers and clinicians to this highly interesting and dynamic field of research.  ...  All authors contributed to the article and approved the submitted version.  ... 
doi:10.3389/fimmu.2020.591971 pmid:33505392 pmcid:PMC7829330 fatcat:fp45w2toovgsdanp3amwm2yw6a

Systemic Lupus Erythematosus: Considerations for a Genetic Approach

John B. Harley, Peter Sheldon, Barbara Neas, Steve Murphy, Daniel J. Wallace, R. Hal Scofield, Timothy S. Shaver, Kathy L. Moser
1994 Journal of Investigative Dermatology  
Perhaps none of these disorders has consumed as much attention as systemic lupus erythematosus, the classic prototype of a systemic autoimmune disease.  ...  Disease clustering, however, has not been re ported. Even diet is relevant. L-canavanine, which is an analog of arginine and found in alfalfa induces systemic lupus erythematosus in primates [3, 4] .  ...  Disease clustering, however, has not been re ported. Even diet is relevant.  ... 
doi:10.1111/1523-1747.ep12399472 pmid:7963678 fatcat:cyx2n7ebgjg3hnr5m3jbvux5pu

Systemic Lupus Erythematosus: Considerations for a Genetic Approach

John B Harley, Peter Sheldon, Barbara Neas, Steve Murphy, R Hal Scofield, Timothy S Shaver, Kathy L Moser, Daniel J Wallace
1994 Journal of Investigative Dermatology  
Perhaps none of these disorders has consumed as much attention as systemic lupus erythematosus, the classic prototype of a systemic autoimmune disease.  ...  Disease clustering, however, has not been re ported. Even diet is relevant. L-canavanine, which is an analog of arginine and found in alfalfa induces systemic lupus erythematosus in primates [3, 4] .  ...  Disease clustering, however, has not been re ported. Even diet is relevant.  ... 
doi:10.1038/jid.1994.27 fatcat:5qbzvprwozhnhjl5g6gu27hzje

Deep Resequencing of 9 Candidate Genes Identifies a Role for ARAP1 and IGF2BP2 in Modulating Insulin Secretion Adjusted for Insulin Resistance in Obese Southern Europeans

Diego Bailetti, Federica Sentinelli, Sabrina Prudente, Flavia Agata Cimini, Ilaria Barchetta, Maria Totaro, Alessia Di Costanzo, Arcangelo Barbonetti, Frida Leonetti, Maria Gisella Cavallo, Marco Giorgio Baroni
2022 International Journal of Molecular Sciences  
Carriers of genetic risk model variants had higher probability to be normoglycemic, also after adjustment (OR = 2.411, 95% CI = 1.136–5.116, p = 0.022).  ...  Constructing a genetic risk model combining the effects of the three variants, only carriers of the ARAP1 and IGF2BP2 variants were significantly associated with a reduced probability to be in the lower  ...  This analysis comprises an unbiased cluster allocation using common variables such as autoimmunity, age at diagnosis, BMI, glycemic control and homeostasis model estimates of β-cell function and insulin  ... 
doi:10.3390/ijms23031221 pmid:35163144 pmcid:PMC8835579 fatcat:ngus3ivstjg2bdaravav2pjoey

The Translational Bridge between Inflammation and Hepatocarcinogenesis

Sabine Gufler, Rita Seeboeck, Christoph Schatz, Johannes Haybaeck
2022 Cells  
Here, we identified a lack of knowledge regarding the roles of single eIF proteins. A closer investigation will help to understand and treat HCC as well as the antecedent diseases.  ...  These include external factors such as alcohol misuse, viral infection and supernutrition, as well as intrinsic parameters such as genetic disposition and failure, in immune tolerance.  ...  disposition, are supposed to promote the development of autoimmune hepatitis.  ... 
doi:10.3390/cells11030533 pmid:35159342 pmcid:PMC8834218 fatcat:mx6kiok42ngezeemvwc6nnujmu

Genetics of Gestational Diabetes Mellitus and Type 2 Diabetes

R. M. Watanabe, M. H. Black, A. H. Xiang, H. Allayee, J. M. Lawrence, T. A. Buchanan
2007 Diabetes Care  
GENETICS OF GDM Familial clustering So what about GDM? Is there a genetic basis for GDM? Surprisingly, there has been relatively little research in the area of GDM genetics per se.  ...  An essential first step in genetics research has been the determination of evidence for a genetic basis for the disease.  ... 
doi:10.2337/dc07-s205 pmid:17596461 pmcid:PMC2925642 fatcat:axcwdgeqezco7misevlttmwbpy

Genetics of Gestational Diabetes Mellitus and Type 2 Diabetes [chapter]

Richard M. Watanabe
2010 Gestational Diabetes During and After Pregnancy  
GENETICS OF GDM Familial clustering So what about GDM? Is there a genetic basis for GDM? Surprisingly, there has been relatively little research in the area of GDM genetics per se.  ...  An essential first step in genetics research has been the determination of evidence for a genetic basis for the disease.  ... 
doi:10.1007/978-1-84882-120-0_13 fatcat:hmydj2ub4favnmg6iyrpoiqjpa

Genetics of Type 2 Diabetes—Pitfalls and Possibilities

Rashmi Prasad, Leif Groop
2015 Genes  
Type 2 diabetes (T2D) is a complex disease that is caused by a complex interplay between genetic, epigenetic and environmental factors.  ...  In this review, we address the possibilities to elucidate the genetic landscape of T2D as well as discuss pitfalls with current strategies to identify the elusive unknown heritability including the possibility  ...  Studies have been performed to address this question but included controls that, despite a clustering of risk factors for T2D, have escaped the disease.  ... 
doi:10.3390/genes6010087 pmid:25774817 pmcid:PMC4377835 fatcat:5pbwwa4jpnew7iegjesv5ijo7e

The β Cell in Diabetes: Integrating Biomarkers with Functional Measures

Steven E Kahn, Yi-Chun Chen, Nathalie Esser, Austin J Taylor, Daniël H van Raalte, Sakeneh Zraika, C Bruce Verchere
2021 Endocrine reviews  
who are at increased risk of developing the disease.  ...  disease.  ...  While the reference list for this article is extensive, we recognize that we have not been able to cite all the relevant literature and apologize to those whose work we may not have included.  ... 
doi:10.1210/endrev/bnab021 pmid:34180979 pmcid:PMC9115372 fatcat:fhnf35eg4fgfvpgwtyktwpx5se

The ontology of genetic susceptibility factors (OGSF) and its application in modeling genetic susceptibility to vaccine adverse events

Yu Lin, Yongqun He
2014 Journal of Biomedical Semantics  
Based on our previous work on ontological modeling of genetic susceptibility to disease, we developed an Ontology of Genetic Susceptibility Factors (OGSF), a biomedical ontology in the domain of genetic  ...  The 'genetic susceptibility to pathological bodily process' is a subclasses of 'genetic susceptibility'. A VAE is a type of pathological bodily process.  ...  Acknowledgements This work has been supported by grant R01AI081062 from the National Institute of Allergy and Infectious Diseases. We also appreciate the editorial review of this manuscript by Dr.  ... 
doi:10.1186/2041-1480-5-19 pmid:24963371 pmcid:PMC4068904 fatcat:bglnw4bebrhlrp6ervabhhjc2a

The changing face of diabetes in youth: lessons learned from studies of type 2 diabetes

Tamara S. Hannon, Silva A. Arslanian
2015 Annals of the New York Academy of Sciences  
risk factors for T2D in youth during middle school via a school-based intervention targeting 15 nutrition, physical education, changing behaviors, and social marketing to increase visibility of 16 the  ...  Whether or not the more 10 aggressive nature of youth T2D is driven by genetic heterogeneity or by physiology/metabolic 11 maladaptation is yet unknown.  ...  available commercial assays are not always sufficiently sensitive to 11 detect low antibody titers yielding negative results when in fact the patient may have 12 autoimmune diabetes.  ... 
doi:10.1111/nyas.12939 pmid:26448515 fatcat:mf7n4dtjyfbqffccnkjfi37v3y
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