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Genes and Immunity

Kyle Gettler, Mamta Giri, Ephraim Kenigsberg, Jerome Martin, Ling-Shiang Chuang, Nai-Yun Hsu, Lee A Denson, Jeffrey S Hyams, Anne Griffiths, Joshua D Noe, Wallace V Crandall, David R Mack, Richard Kellermayer, Clara Abraham, Gabriel Hoffman, Subra Kugathasan, Judy H Cho
Genome-wide association studies have identified ~170 loci associated with Crohn's disease (CD) and defining which genes drive these association signals is a major challenge. The primary aim of this study was to define which CD locus genes are most likely to be disease related. We developed a gene prioritization regression model (GPRM) by integrating complementary mRNA expression datasets, including bulk RNA-Seq from the terminal ileum of 302 newly diagnosed, untreated CD patients and controls, and in stimulated monocytes...
January 29, 2019: Genes and Immunity
Truong San Phan, Verena M Merk, Thomas Brunner
Epithelial barriers play an important role in the exchange of nutrients, gases, and other signals between our body and the outside world. However, they protect it also from invasion by potential pathogens. Defective epithelial barriers and associated overshooting immune responses are the basis of many different inflammatory disorders of the skin, the lung, and the intestinal mucosa. The anti-inflammatory activity of glucocorticoids has been efficiently used for the treatment of these diseases. Interestingly, epithelia in these tissues are also a rich source of endogenous glucocorticoids, suggesting that local glucocorticoid synthesis is part of a tissue-specific regulatory circuit...
January 29, 2019: Genes and Immunity
M Eugenia Delgado, Thomas Brunner
The intestinal epithelium represents an exquisite complex combination of specialized cellular components, structural organization, as well as fine-tuned maintenance and renewal mechanisms that ensure its barrier and absorptive function. Defects in one or more of these components can lead to devastating consequences for the organisms, and when chronic, even develop into inflammatory diseases, such as Crohn's disease or ulcerative colitis. In these scenarios, the cytokine TNF (Tumor Necrosis Factor α) appears to be a major inflammation-promoting and tissue damage-promoting effector molecule...
January 28, 2019: Genes and Immunity
Asma Ahmed, Juliane Schwaderer, Annika Hantusch, Kaija-Leena Kolho, Thomas Brunner
Inflammatory bowel disease (IBD), such as Crohn's disease and ulcerative colitis are devastating chronic immunopathologies of the intestinal mucosa, which are frequently treated by immunosuppressive glucocorticoids. Endogenous glucocorticoids are not only produced by the adrenal glands, but also by the intestinal epithelium. Local glucocorticoid synthesis critically contributes to the immune homeostasis of the intestinal mucosa. As defective intestinal glucocorticoid synthesis has been associated with the development of IBD, we investigated the expression of steroidogenic enzymes and the key transcriptional regulator Liver Receptor Homolog-1 (LRH-1/NR5A2) in ileal and colonic biopsies human pediatric IBD and control patients...
January 28, 2019: Genes and Immunity
Giovanna I Cruz, Xiaorong Shao, Hong Quach, Diana Quach, Kimberly A Ho, Kirsten Sterba, Janelle A Noble, Nikolaos A Patsopoulos, Michael P Busch, Darrell J Triulzi, Nektarios Ladas, Rainer Blasczyk, Wendy S W Wong, Benjamin D Solomon, John E Niederhuber, Lindsey A Criswell, Lisa F Barcellos
The study objective was to test the hypothesis that having histocompatible children increases the risk of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), possibly by contributing to the persistence of fetal cells acquired during pregnancy. We conducted a case control study using data from the UC San Francisco Mother Child Immunogenetic Study and studies at the Inova Translational Medicine Institute. We imputed human leukocyte antigen (HLA) alleles and minor histocompatibility antigens (mHags)...
January 12, 2019: Genes and Immunity
Francesca Pentimalli, Sandro Grelli, Nicola Di Daniele, Gerry Melino, Ivano Amelio
Alterations in the molecular mechanisms of cell death are a common feature of cancer. These alterations enable malignant cells to survive intrinsic death signalling leading to accumulation of genetic aberrations and helping them to cope with adverse conditions. Regulated cell death has historically been exclusively associated with classical apoptosis; however, increasing evidence indicates that several alternative mechanisms orchestrate multiple death pathways, such as ferroptosis, entosis, necroptosis and immunogenic cell death, each with distinct underlying molecular mechanisms...
December 19, 2018: Genes and Immunity
Ria Lassaunière, Maria Paximadis, Osman Ebrahim, Richard E Chaisson, Neil A Martinson, Caroline T Tiemessen
In the HIV-1 Thai RV144 vaccine trial-the only trial to demonstrate any vaccine efficacy to date-a three-variant haplotype within the Fc gamma receptor 2C gene (FCGR2C) modified the risk of HIV-1 acquisition. A similar vaccine regimen is currently being evaluated in South Africa in the HVTN702 trial, where the predominant population is polymorphic for only a single variant in the haplotype, c.134-96C>T. To investigate the significance of c.134-96C>T in HIV-specific immunity in South Africans, this study assessed its role in HIV-1 disease progression...
December 19, 2018: Genes and Immunity
Taryn O Hall, Ian B Stanaway, David S Carrell, Robert J Carroll, Joshua C Denny, Hakon Hakonarson, Eric B Larson, Frank D Mentch, Peggy L Peissig, Sarah A Pendergrass, Elisabeth A Rosenthal, Gail P Jarvik, David R Crosslin
Resting-state white blood cell (WBC) count is a marker of inflammation and immune system health. There is evidence that WBC count is not fixed over time and there is heterogeneity in WBC trajectory that is associated with morbidity and mortality. Latent class mixed modeling (LCMM) is a method that can identify unobserved heterogeneity in longitudinal data and attempts to classify individuals into groups based on a linear model of repeated measurements. We applied LCMM to repeated WBC count measures derived from electronic medical records of participants of the National Human Genetics Research Institute (NHRGI) electronic MEdical Record and GEnomics (eMERGE) network study, revealing two WBC count trajectory phenotypes...
November 21, 2018: Genes and Immunity
Hongwei Li, Guochao Wang, Huanhu Zhang, Xin Song, Jianzhong Cao, Xiaqin Zhang, Ruiqi Xue, Weili Wang, Sufang Jia, Zhengran Li
The prognostic value of the systemic immune-inflammation index (SII) has been shown in various types of cancers. We aimed to evaluate the predictive values in brain metastases from lung adenocarcinoma with status of EGFR mutations. We, retrospectively, examined 310 patients with brain metastases from lung adenocarcinoma with status of EGFR mutations. SII was calculated using P * N/L, where P, N, and L, respectively refer to peripheral blood lymphocyte, neutrophil, and platelet counts. The cut-off value of SII was assessed by area under the curve (AUC)...
November 9, 2018: Genes and Immunity
Christian Lundtoft, Anthony Afum-Adjei Awuah, Alptekin Güler, Kirstin Harling, Heiner Schaal, Ertan Mayatepek, Richard O Phillips, Norman Nausch, Ellis Owusu-Dabo, Marc Jacobsen
Functional interleukin-7 receptor α-chain (IL-7Rα) genetic variants, which affect alternative splicing and expression of the soluble IL-7Rα, are associated with susceptibility to autoimmunity. We previously described aberrant IL-7Rα expression and impaired IL-7-mediated T-cell functions in tuberculosis patients. In the present study, we investigated a possible role of IL7RA gene variants. Six exonic IL7RA polymorphisms were genotyped and two minor alleles were found at lower frequencies in tuberculosis patients as compared to healthy contacts from Ghana (rs11567764, p = 0...
October 31, 2018: Genes and Immunity
Giuseppe Raschellà, Gerry Melino, Alessandra Gambacurta
Tumors constitute a large class of diseases that affect different organs and cell lineages. The molecular characterization of cancers of a given type has revealed an extraordinary heterogeneity in terms of genetic alterations and DNA mutations; heterogeneity that is further highlighted by single-cell DNA sequencing of individual patients. To address these issues, drugs that specifically target genes or altered pathways in cancer cells are continuously developed. Indeed, the genetic fingerprint of individual tumors can direct the modern therapeutic approaches to selectively hit the tumor cells while sparing the healthy ones...
October 19, 2018: Genes and Immunity
Paola Giglio, Mara Gagliardi, Roberta Bernardini, Maurizio Mattei, Diego Cotella, Claudio Santoro, Mauro Piacentini, Marco Corazzari
Skin melanoma remains one of the most aggressive and difficult to treat human malignancy, with an increasing incidence every year. Although surgical resection represents the best therapeutic approach, this is only feasible in cases of early diagnosis. Furthermore, the established malignancy is resistant to all therapeutic strategies employed so far, resulting in an unacceptable patient survival rate. Although the immune-mediated therapeutic approaches, based on anti-PD1 or anti-CTLA4, are very promising and under clinical trial experimentation, they could conceal not yet fully emerged pitfalls such as the development of autoimmune diseases...
October 4, 2018: Genes and Immunity
Jun-Min Lu, Yuan-Cheng Chen, Zeng-Xin Ao, Jie Shen, Chun-Ping Zeng, Xu Lin, Lin-Ping Peng, Rou Zhou, Xia-Fang Wang, Cheng Peng, Hong-Mei Xiao, Kun Zhang, Hong-Wen Deng
Genome-wide association studies (GWASs) have discovered >50 risk loci for type 1 diabetes (T1D). However, those variations only have modest effects on the genetic risk of T1D. In recent years, accumulated studies have suggested that gene-gene interactions might explain part of the missing heritability. The purpose of our research was to identify potential and novel risk genes for T1D by systematically considering the gene-gene interactions through network analyses. We carried out a novel system network analysis of summary GWAS statistics jointly with transcriptomic gene expression data to identify some of the missing heritability for T1D using weighted gene co-expression network analysis (WGCNA)...
September 24, 2018: Genes and Immunity
Bing Liu, Lisa A Maier, Nabeel Hamzeh, Kristyn MacPhail, Margaret M Mroz, Hongbo Liu, Li Li
Previously we showed that alveolar macrophages (AMs) from patients with chronic beryllium disease (CBD) and beryllium sensitization (BeS) demonstrated significantly greater cell surface CD16 (encoded by the FCGR3A gene) than controls. We hypothesized that these differences were related to polymorphisms in the FCGR3A gene. This study was to determine the association between FCGR3A polymorphisms in CBD, BeS versus controls as well as clinical data, providing potential information about disease pathogenesis, risk, and activity...
September 24, 2018: Genes and Immunity
Brigitte Glanzmann, Caitlin Uren, Nikola de Villiers, Ansia van Coller, Richard H Glashoff, Michael Urban, Eileen G Hoal, Monika M Esser, Marlo Möller, Craig J Kinnear
While individual primary immunodeficiency diseases (PIDs) are rare, collectively they represent a significant burden of disease. Recent estimates show that about one million people in Africa suffer from a PID. However, data from African PID registries reflect only a small percentage of the estimated prevalence. This disparity is partly due to the lack of PID awareness and the masking of PIDs by the endemic pathogens. Over three million tuberculosis (TB) cases were reported in Africa in 2016, with many of these from southern Africa...
September 6, 2018: Genes and Immunity
Marie Fechtenbaum, Judith Desoutter, Gauthier Delvallez, Etienne Brochot, Nicolas Guillaume, Vincent Goëb
The major histocompatibility complex class I polypeptide-related sequence A (MICA) glycoprotein mediates the activation of the natural killer group 2D receptor (NKG2D) expressed on NK and CD8+ T cells. A methionine or valine at position 129 in exon 3 results in strong (MICA129 met) or weak (MICA129 val) binding to NKG2D. The MICA A5.1 allele causes a premature stop codon. Various NKG2D polymorphisms are associated with low (NKC3 C/C and NKC4 C/C) or high (NKC3 G/G and NKC4 T/T) levels of NK cell cytotoxic activity...
September 4, 2018: Genes and Immunity
Ming-Liang Zhang, Dong-Ming Zhang, Cai-E Wang, Xiao-Long Chen, Fang-Zhou Liu, Jian-Xue Yang
Emerging evidence revealed that thyroglobulin (TG) contributes to the development of autoimmune disease, and the relationship between TG and autoimmune thyroid disease (AITD) is still controversial. The aim of this study was to quantify the association between rs2076740, rs853326, rs180223, and rs2069550 TG polymorphisms and risk of AITD using a meta-analysis approach. We identified all studies that assessed the association between TG polymorphisms and AITD from PubMed, Embase, and Web of Science databases...
August 24, 2018: Genes and Immunity
Thomas Brunner, Marie-Lise Gougeon
No abstract text is available yet for this article.
August 17, 2018: Genes and Immunity
Robert P Igo, Noémi B Hall, LaShaunda L Malone, Jacob B Hall, Barbara Truitt, Feiyou Qiu, Li Tao, Ezekiel Mupere, Audrey Schnell, Thomas R Hawn, William S Bush, Moses Joloba, W Henry Boom, Catherine M Stein
Tuberculosis (TB) is a major public health burden worldwide, and more effective treatment is sorely needed. Consequently, uncovering causes of resistance to Mycobacterium tuberculosis (Mtb) infection is of special importance for vaccine design. Resistance to Mtb infection can be defined by a persistently negative tuberculin skin test (PTST-) despite living in close and sustained exposure to an active TB case. While susceptibility to Mtb is, in part, genetically determined, relatively little work has been done to uncover genetic factors underlying resistance to Mtb infection...
August 13, 2018: Genes and Immunity
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