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Bernice M Benoit, Neha Jariwala, Geraldine O'Connor, Landon K Oetjen, Timothy M Whelan, Adrienne Werth, Andrea B Troxel, Hélène Sicard, Lisa Zhu, Christopher Miller, Junko Takeshita, Daniel W McVicar, Brian S Kim, Alain H Rook, Maria Wysocka
Sézary syndrome (SS), a leukemic variant of cutaneous T-cell lymphoma (CTCL), is associated with a significantly shorter life expectancy compared to skin-restricted mycosis fungoides. Early diagnosis of SS is, therefore, key to achieving enhanced therapeutic responses. However, the lack of a biomarker(s) highly specific for malignant CD4(+) T cells in SS patients has been a serious obstacle in making an early diagnosis. We recently demonstrated the high expression of CD164 on CD4(+) T cells from Sézary syndrome patients with a wide range of circulating tumor burdens...
October 20, 2016: Archives of Dermatological Research
Małgorzata Pawłowicz, Rafał Filipów, Grzegorz Krzykowski, Anna Stanisławska-Sachadyn, Lucyna Morzuch, Julia Kulczycka, Anna Balcerska, Janusz Limon
BACKGROUND: Genotype-phenotype studies in type 1 diabetes (T1DM) patients are needed for further development of therapy strategies. OBJECTIVE: Our aims were to investigate the distribution of selected PTPN22 and FCRL3 gene polymorphisms and their associations with clinical course of disease in children with newly diagnosed T1DM from the Pomeranian region of Poland. SUBJECTS/METHODS: The prospective, longitudinal study of 147 children with newly diagnosed T1DM-autoimmune subtype was conducted...
September 12, 2016: Pediatric Diabetes
Alberto Falorni, Annalisa Brozzetti, Roberto Perniola
Autoimmune Addison's disease (AAD) is a complex disease that results from the interaction of a predisposing genetic background with still unknown environmental factors. Pathogenic variants in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrine syndrome type 1, of which AAD is a major disease component. Among the genetic factors for isolated AAD and autoimmune polyendocrine syndrome type 2, a key role is played by HLA class II genes: HLA-DRB1*0301-DQA1*0501-DQB1*0201 and DRB1*04-DQA1*0301-DQB1*0302 are positively, and DRB1*0403 is negatively, associated with genetic risk for AAD...
2016: Frontiers of Hormone Research
Ingvild S M Gabrielsen, Silja Svanstrøm Amundsen, Hanna Helgeland, Siri Tennebø Flåm, Nimo Hatinoor, Kristian Holm, Marte K Viken, Benedicte A Lie
Genome-wide association studies (GWAS) have boosted our knowledge of genetic risk variants in autoimmune diseases (AIDs). Most risk variants are located within or near genes with immunological functions, and the majority is found to be non-coding, pointing towards a regulatory role. In this study, we performed a cis expression quantitative trait locus (eQTL) screen restricted to 353 AID associated risk variants selected from the GWAS catalog to investigate whether these single nucleotide polymorphisms (SNPs) influence gene expression in thymus...
May 19, 2016: Human Molecular Genetics
Ana Karen Rodríguez-Elías, Karina Maldonado-Murillo, Luis Fernando López-Mendoza, Julián Ramírez-Bello
Rheumatoid arthritis is a chronic inflammatory autoimmune disease that affects approximately 0.5-1% of the general population and leads to chronic synovial inflammation, destruction of cartilage and bone, and disability. The heritability of rheumatoid arthritis has been estimated to be about 60%, while the contribution of HLA to heritability has been estimated to be 11-37%. Other genes, such as PTPN22, STAT4, CTLA4, TRAF1, PADI4, IRF5, FCRL3, TNFIP3, TNF-α, miRNAs, CD28, CD40, TYK2, etc., have been associated with susceptibility, severity, activity, and treatment response of rheumatoid arthritis...
March 2016: Gaceta Médica de México
Wenwen Yan, Haoming Song, Jinfa Jiang, Wenjun Xu, Zhu Gong, Qianglin Duan, Chuangrong Li, Yuan Xie, Lemin Wang
The current study aimed to identify differentially expressed B cell‑associated genes in peripheral blood mononuclear cells and observe the changes in B cell activation at different stages of coronary artery disease. Groups of patients with acute myocardial infarction (AMI) and stable angina (SA), as well as healthy volunteers, were recruited into the study (n=20 per group). Whole human genome microarray analysis was performed to examine the expression of B cell‑associated genes among these three groups...
May 2016: Molecular Medicine Reports
Katarzyna Wojciechowska-Durczynska, Kinga Krawczyk-Rusiecka, Arkadiusz Zygmunt, Renata Stawerska, Andrzej Lewinski
BACKGROUND: Numerous genetic studies revealed several susceptibility genes of autoimmune thyroid diseases (AITD), including CTLA4, PTPN22 and FCRL3. These immune-modulating genes are involved in genetic background of AITD among children and adult patients. However, possible age-related differences in overexpression of these genes remain unclear. PURPOSE: The goal of this single centre cohort study was evaluation of expression levels of three (3) genes CTLA4, PTPN22 and FCRL3 in adult patients and children with autoimmune thyroiditis...
2016: Neuro Endocrinology Letters
Daniel J Hodson, Arthur L Shaffer, Wenming Xiao, George W Wright, Roland Schmitz, James D Phelan, Yandan Yang, Daniel E Webster, Lixin Rui, Holger Kohlhammer, Masao Nakagawa, Thomas A Waldmann, Louis M Staudt
The requirement for the B-cell transcription factor OCT2 (octamer-binding protein 2, encoded by Pou2f2) in germinal center B cells has proved controversial. Here, we report that germinal center B cells are formed normally after depletion of OCT2 in a conditional knockout mouse, but their proliferation is reduced and in vivo differentiation to antibody-secreting plasma cells is blocked. This finding led us to examine the role of OCT2 in germinal center-derived lymphomas. shRNA knockdown showed that almost all diffuse large B-cell lymphoma (DLBCL) cell lines are addicted to the expression of OCT2 and its coactivator OCA-B...
April 5, 2016: Proceedings of the National Academy of Sciences of the United States of America
Jan P Nicolay, Moritz Felcht, Kai Schledzewski, Sergij Goerdt, Cyrill Géraud
Das Sézary-Syndrom, die leukämische Variante des kutanen T-Zell-Lymphoms, stellt immer noch eine Erkrankung mit vielen ungelösten Fragen sowie einer sehr ungünstigen Prognose dar. In jüngeren Forschungsarbeiten wurde jedoch eine Vielzahl an fehlregulierten molekularen Signalwegen identifiziert, die zur malignen Transformation und Therapieresistenz von Sézary-Zellen (SC) beitragen. Im Hinblick auf die T-Zell-Entwicklung repräsentieren SC entweder naive T-Zellen, T-Effektor-Gedächtniszellen oder zentrale T-Gedächtniszellen...
March 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Jan P Nicolay, Moritz Felcht, Kai Schledzewski, Sergij Goerdt, Cyrill Géraud
Sézary syndrome, the leukemic variant of cutaneous T-cell lymphoma, is still an enigmatic disease with a fatal prognosis. Recent research, however, has identified a multitude of dysregulated molecular pathways that contribute to malignant transformation and therapy resistance of Sézary cells (SC). With respect to T-cell development, SC either represent naive T cells, T effector memory or T central memory cells. Functionally, SC may differentiate into Th2, Treg, or even Th17 cells. Despite their plasticity, SC express characteristic diagnostic marker proteins including CD158k, CD164, FcRL3, and PD-1 as well as skin-homing receptors such as CLA and CCR4...
March 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Xin Lin, Yi Zhang, Qinghe Chen
BACKGROUND: Rheumatoid arthritis (RA) is a common chronic systemic autoimmune disease. As a member of FCRLs clusters, Fc receptor-like 3 (FCRL3) has been recognized as a neoteric autoimmune activation factor for RA. The aim of our study is to evaluate the correlation between four single-nucleotide polymorphisms (SNPs) on FCRL3 and RA risk in a Chinese Han population. MATERIAL AND METHODS: The hospital-based case-control study included 630 RA patients together with 696 healthy individuals as the control group and all subjects are Chinese ancestry...
February 2016: Human Immunology
Shanshan Wu, Ting Cai, Feng Chen, Xuefei He, Zhihua Cui
BACKGROUND: Graves ophthalmopathy (GO) is a form of autoimmune thyroid disease commonly found in approximately 25-50% patients with Graves' disease. Both the thyroid-specific genes and immune-modulating genes are involved in susceptibility to GO. However, even though FCRL3 polymorphisms were also autoimmune-associated genes, no study has been performed regarding the association of FCRL3 with GO. Therefore, the objective of the current study was to conduct a basic case-control study in a Chinese population...
2015: International Journal of Clinical and Experimental Medicine
Kazuhiko Yamamoto, Yukinori Okada, Akari Suzuki, Yuta Kochi
Rheumatoid arthritis (RA) is a common autoimmune disease that results in significant morbidity. As with other complex disorders, genome-wide association studies (GWASs) have greatly contributed to the current understanding of RA etiology. In this review, we describe the genetic configuration of RA as revealed primarily through GWASs and their meta-analyses. In addition, we discuss the pathologic mechanisms of RA as suggested by the findings of genetic and functional studies of individual RA-associated genes, including HLA-DRB1, PADI4, PTPN22, CCR6 and FCRL3, and the potential use of genetic information for RA treatment in clinical practice...
2015: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
J F Mendoza Rincón, A K Rodríguez Elias, J M Fragoso, G Vargas Alarcón, K Maldonado Murillo, M L Rivas Jiménez, R E Barbosa Cobos, S Jimenez Morales, G Lugo Zamudio, C Tovilla Zárate, J Ramírez Bello
Rheumatoid arthritis (RA) is a multifactorial disease. A combination of genetic and environmental risk factors contributes to its etiology. Several genes have been reported to be associated with susceptibility to the development of RA. The MHC2TA and FCRL3 genes have been associated previously with RA in Swedish and Japanese populations, respectively. In two recent reports, we show an association between FCRL3 and juvenile rheumatoid arthritis (JRA), and MHC2TA and acute coronary syndrome (ACS) in Mexican population...
February 2016: Rheumatology International
Haiyan Zhang, Zhen Zhang, Guang Li, Surong Wang, Shiqian Zhang, Beibei Xie
The Fc receptor-like 3 (FCRL3) gene was reported to be linked to a variety of autoimmune diseases, including endometriosis-related infertility. However, this linkage has not been studied in Chinese population and there has been no meta-analysis on the interrelationship of FCRL3 gene and endometriosis-related infertility. The aim of the study was to investigate the association between FCRL3 genetic polymorphisms and the risk of endometriosis-related infertility in Han Chinese, and a further meta-analysis was conducted to confirm our results...
September 2015: Medicine (Baltimore)
Yi Fang, Yanyan Li, Jing Zeng, Jingjing Wang, Ran Liu, Cheng Cao
BACKGROUND: Graves' disease (GD) is recognized as a most frequent form of autoimmune thyroid disease, but the etiology underlying GD still remains unclear. Among the thyroid-specific and immune-modulating genes involved in susceptibility to GD, FCRL3 polymorphisms have been demonstrated to be associated with GD in independent studies. However, considering the limited sample size and statistical power of previous studies, there is no study analyzing this relationship systematically. Therefore, this investigation was aimed to perform a case-control study in a Chinese population and a meta-analysis including relevant studies was carried out to confirm a potential correlation between SNPs investigated and risk of GD...
January 2016: Immunobiology
Hong Liu, Zheng Gu, Hou-Yong Kang, Xia Ke, Yang Shen, Xiao-Qiang Wang, Guo-Hua Hu, Ji-Hong Zeng, Su-Ling Hong
Fc receptor-like 3 (FCRL3) has recently been associated with susceptibility to several immune-related diseases. In this study, we evaluated the potential association of FCRL3 polymorphisms with sudden sensorineural hearing loss (SSNHL) in a Chinese Han population. Five single-nucleotide polymorphisms (SNPs) in FCRL3-rs945635, rs3761959, rs7522061, rs10489678, and rs7528684-were genotyped in 630 patients with SSNHL and 600 healthy controls by using a PCR-restriction fragment length polymorphism assay. The allele, genotype, and haplotype frequencies in the patients and the controls were compared using a χ(2) test...
October 1, 2015: Gene
Chikashi Terao, Koichiro Ohmura, Yuta Kochi, Katsunori Ikari, Yukinori Okada, Masakazu Shimizu, Naoshi Nishina, Akari Suzuki, Keiko Myouzen, Takahisa Kawaguchi, Meiko Takahashi, Kiyoshi Takasugi, Akira Murasawa, Shinichi Mizuki, Mitsuhiro Iwahashi, Keiko Funahashi, Masamitsu Natsumeda, Moritoshi Furu, Motomu Hashimoto, Hiromu Ito, Takao Fujii, Kazuhiko Ezawa, Tsukasa Matsubara, Tsutomu Takeuchi, Michiaki Kubo, Ryo Yamada, Atsuo Taniguchi, Hisashi Yamanaka, Shigeki Momohara, Kazuhiko Yamamoto, Tsuneyo Mimori, Fumihiko Matsuda
INTRODUCTION: Although susceptibility genes for anti-citrullinated peptide/protein antibodies (ACPA)-positive rheumatoid arthritis (RA) have been successfully discovered by genome-wide association studies (GWAS), little is known about the genetic background of ACPA-negative RA. We intended to elucidate genetic background of ACPA-negative RA. METHOD: We performed a meta-analysis of GWAS comprising 670 ACPA-negative RA and 16,891 controls for 1,948,138 markers, followed by a replication study of the top 35 single nucleotide polymorphisms (SNPs) using 916 cases and 3,764 controls...
2015: Arthritis Research & Therapy
Menghui Yuan, Longxiao Wei, Runsuo Zhou, Qianrong Bai, Yixin Wei, Wei Zhang, Yong Huang
Multiple sclerosis (MS) is an autoimmune/inflammatory neurodegenerative disease which mainly affects the central nervous system in young adults. Fc-receptor-like-3 (FCRL3) gene, which involved in immune cell regulation, has drawn lots of attentions. This study aims to investigate the association between common polymorphisms of FCRL3 gene and MS risk in a Chinese Han population. Nine single nucleotide polymorphisms (SNPs) were genotyped in 120 patients and 240 healthy controls through PCR assay. t test and chi-square test was conducted to find a possible association between FCRL3 genetic mutations and risk of MS...
April 2016: Molecular Neurobiology
Caroline A Brorsson, Suna Onengut, Wei-Min Chen, Janet Wenzlau, Liping Yu, Peter Baker, Alistair J K Williams, Polly J Bingley, John C Hutton, George S Eisenbarth, Patrick Concannon, Stephen S Rich, Flemming Pociot
Islet autoantibodies detected at disease onset in patients with type 1 diabetes are signs of an autoimmune destruction of the insulin-producing β-cells. To further investigate the genetic determinants of autoantibody positivity, we performed dense immune-focused genotyping on the Immunochip array and tested for association with seven disease-specific autoantibodies in a large cross-sectional cohort of 6,160 type 1 diabetes-affected siblings. The genetic association with positivity for GAD autoantibodies (GADAs), IA2 antigen (IA-2A), zinc transporter 8, thyroid peroxidase, gastric parietal cells (PCAs), tissue transglutaminase, and 21-hydroxylase was tested using a linear mixed-model regression approach to simultaneously control for population structure and family relatedness...
August 2015: Diabetes
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