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https://www.readbyqxmd.com/read/28727628/replication-confirms-the-association-of-loci-in-foxe1-pde8b-capzb-and-pde10a-with-thyroid-traits-a-genetics-of-diabetes-audit-and-research-tayside-study
#1
Enrique Soto-Pedre, Moneeza K Siddiqui, Alex S Doney, Colin N A Palmer, Ewan R Pearson, Graham P Leese
OBJECTIVE: Replication of associations in genome-wide association studies is desirable to ensure that such signals are potentially clinically meaningful. This study aimed to replicate associations of selected single-nucleotide polymorphisms (SNPs) with hypothyroidism and serum thyroid-stimulating hormone (TSH) using electronic medical records (EMRs). PATIENTS AND METHODS: A cross-sectional study was carried out among patients of European Caucasian ethnicity from the Genetics of Diabetes Audit and Research Tayside recruited in Tayside (Scotland, UK)...
July 19, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28723925/immunologic-response-to-vaccine-challenge-in-pregnant-ptpn22-r620w-carriers-and-non-carriers
#2
Shelly H Tien, Juliet N Crabtree, Heather L Gray, Erik J Peterson
OBJECTIVES: Influenza infection is a significant cause of respiratory morbidity among pregnant women. Seasonal influenza vaccination engages innate immune receptors to promote protective immunity. A coding polymorphism (R620W) in PTPN22 imparts elevated risk for human infection and autoimmune disease, predisposes to diminished innate immune responses, and associates with reduced immunization responses. We sought to quantify the effects of PTPN22-R620W on humoral and cell-mediated immune responses to the inactivated influenza vaccine among healthy pregnant women...
2017: PloS One
https://www.readbyqxmd.com/read/28702029/inflammation-related-gene-polymorphisms-associated-with-primary-immune-thrombocytopenia
#3
Ju Li, Sai Ma, Linlin Shao, Chunhong Ma, Chengjiang Gao, Xiao-Hui Zhang, Ming Hou, Jun Peng
Primary immune thrombocytopenia (ITP) is an acquired autoimmune disease characterized by a reduced platelet count and an increased risk of bleeding. Although immense research has improved our understanding of ITP, the pathogenesis remains unclear. Here, we investigated the involvement of 25 single-nucleotide polymorphisms (SNPs) of the inflammation-related genes, including CD24, CD226, FCRL3, IL2, IRF5, ITGAM, NLRP3, CARD8, PTPN22, SH2B2, STAT4, TNFAIP3, and TRAF1, in the pathogenesis and treatment response of ITP...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28695611/prediction-of-type-1-diabetes-using-a-genetic-risk-model-in-the-diabetes-autoimmunity-study-in-the-young
#4
Brigitte I Frohnert, Michael Laimighofer, Jan Krumsiek, Fabian J Theis, Christiane Winkler, Jill M Norris, Anette-Gabriele Ziegler, Marian J Rewers, Andrea K Steck
BACKGROUND: Genetic predisposition for type 1 diabetes (T1D) is largely determined by human leukocyte antigen (HLA) genes; however, over 50 other genetic regions confer susceptibility. We evaluated a previously reported 10-factor weighted model derived from the Type 1 Diabetes Genetics Consortium to predict the development of diabetes in the Diabetes Autoimmunity Study in the Young (DAISY) prospective cohort. Performance of the model, derived from individuals with first-degree relatives (FDR) with T1D, was evaluated in DAISY general population (GP) participants as well as FDR subjects...
July 11, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28686204/metabolic-and-blood-pressure-effects-of-walnut-supplementation-in-a-mouse-model-of-the-metabolic-syndrome
#5
Nicola J A Scott, Leigh J Ellmers, Anna P Pilbrow, Lotte Thomsen, Arthur Mark Richards, Chris M Frampton, Vicky A Cameron
There is extensive evidence that walnut consumption is protective against cardiovascular disease and diabetes in the healthy population, but the beneficial effects of walnut consumption in individuals with the metabolic syndrome (MetS) remain uncertain. We compared a range of cardio-metabolic traits and related tissue gene expression associated with 21 weeks of dietary walnut supplementation in a mouse model of MetS (MetS-Tg) and wild-type (WT) mice (n = 10 per genotype per diet, equal males and females). Compared to standard diet, walnuts did not significantly alter food consumption or body weight trajectory of either MetS-Tg or WT mice...
July 7, 2017: Nutrients
https://www.readbyqxmd.com/read/28653215/nlrp1-ptpn22-and-padi4-gene-polymorphisms-and-rheumatoid-arthritis-in-acpa-positive-singaporean-chinese
#6
Liuh Ling Goh, Mei Yun Yong, Wei Qiang See, Edward Yu Wing Chee, Pei Qi Lim, Ee Tzun Koh, Khai Pang Leong
Studies have shown that the genetic risk factors for rheumatoid arthritis (RA) differ substantially between Asian and Caucasian populations. Even among Asian populations, the genetic contributions of NLRP1, PTPN22 and PADI4 have been controversial. Consequently, we sought to address these separate findings and determine whether any of these proposed risk variants are associated with RA susceptibility, onset, DAS activity and erosion in a Singaporean Chinese cohort. We genotyped five SNPs within NLRP1 (rs878329 and rs6502867), PTPN22 (rs2488457 and rs6665194), and PADI4 (rs2240340) in 500 anti-cyclic citrullinated peptide antibody-positive (ACPA) patients with RA and 500 healthy controls using TaqMan assays...
June 26, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28646072/genetic-and-environmental-interactions-modify-the-risk-of-diabetes-related-autoimmunity-by-6-years-of-age-the-teddy-study
#7
Jeffrey P Krischer, Kristian F Lynch, Åke Lernmark, William A Hagopian, Marian J Rewers, Jin-Xiong She, Jorma Toppari, Anette-G Ziegler, Beena Akolkar
OBJECTIVE: We tested the associations between genetic background and selected environmental exposures with respect to islet autoantibodies and type 1 diabetes. RESEARCH DESIGN AND METHODS: Infants with HLA-DR high-risk genotypes were prospectively followed for diabetes-related autoantibodies. SNPs came from the Illumina ImmunoChip and environmental exposure data were by parental report. Children were followed to age 6 years. RESULTS: Insulin autoantibodies occurred earlier than GAD antibody (GADA) and then declined, while GADA incidence rose and remained constant (significant in HLA-DR4 but not in the DR3/3 children)...
June 23, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28627089/analysis-of-ptpn22-zfat-and-myo9b-polymorphisms-in-turner-syndrome-and-risk-of-autoimmune-disease
#8
E Villanueva-Ortega, B Ahedo, M A Fonseca-Sánchez, J Pérez-Durán, N Garibay-Nieto, M T Macías-Galavíz, Y Trujillo-Cabrera, E García-Latorre, G Queipo
Turner syndrome (TS) is one of the most common sexual chromosome abnormalities and is clearly associated with an increased risk of autoimmune diseases, particularly thyroid disease and coeliac disease (CD). Single-nucleotide polymorphism analyses have been shown to provide correlative evidence that specific genes are associated with autoimmune disease. Our aim was to study the functional polymorphic variants of PTPN22 and ZFAT in relation to thyroid disease and those of MYO9B in relation to CD. A cross-sectional comparative analysis was performed on Mexican mestizo patients with TS and age-matched healthy females...
June 18, 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28619073/genome-wide-pathway-analysis-identifies-vegf-pathway-association-with-oral-ulceration-in-systemic-lupus-erythematosus
#9
Adrià Aterido, Antonio Julià, Patricia Carreira, Ricardo Blanco, José Javier López-Longo, José Javier Pérez Venegas, Àlex Olivé, José Luís Andreu, Maria Ángeles Aguirre-Zamorano, Paloma Vela, Joan M Nolla, José Luís Marenco-de la Fuente, Antonio Zea, José María Pego, Mercedes Freire, Elvira Díez, María López-Lasanta, Mireia López-Corbeto, Núria Palau, Raül Tortosa, Josep Lluís Gelpí, Devin Absher, Richard M Myers, Antonio Fernández-Nebro, Sara Marsal
BACKGROUND: Systemic lupus erythematosus (SLE) is a genetically complex rheumatic disease characterized by heterogeneous clinical manifestations of unknown etiology. Recent studies have suggested the existence of a genetic basis for SLE heterogeneity. The objective of the present study was to identify new genetic variation associated with the clinically relevant phenotypes in SLE. METHODS: A two-stage pathway-based approach was used to identify the genetic variation associated with the main clinical phenotypes in SLE...
June 15, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28615512/hdac10-promotes-angiogenesis-in-endothelial-cells-through-the-ptpn22-erk-axis
#10
Baoyu Duan, Dan Ye, Songcheng Zhu, Wenwen Jia, Chenqi Lu, Guiying Wang, Xudong Guo, Yangyang Yu, Chuanyue Wu, Jiuhong Kang
Angiogenesis is crucially involved in many physiological and pathological processes including tumor growth, but the molecular mechanisms regulating angiogenesis are incompletely understood. In this study, we investigated the functions and mechanism of histone deacetylase 10 (HDAC10), a member of the HDAC II family, in regulation of angiogenesis. HDAC10 overexpression in human umbilical vein endothelial cells (HUVECs) promoted tube formation, whereas depletion of HDAC10 from HUVECs inhibited tube formation in vitro and in vivo...
May 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28603863/identification-of-ptpn22-st6gal1-and-jazf1-as-psoriasis-risk-genes-demonstrates-shared-pathogenesis-between-psoriasis-and-diabetes
#11
Honglei Wang, Zhenzhen Wang, Parimi Leela Rani, Xi'an Fu, Wenjun Yu, Fangfang Bao, Gongqi Yu, Jianke Li, Lulu Li, Lele Sun, Zhenhua Yue, Qing Zhao, Qing Pan, Jing Cao, Chuan Wang, Xiaojun Chi, Yaru Wang, Qing Yang, Zihao Mi, Hong Liu, Furen Zhang
The biological connections between psoriasis and diabetes have been suggested by epidemiological, immunological and genetic studies. To identify additional shared susceptibility loci and investigate shared pathogenesis between these two diseases, we genotyped 89 reported diabetes susceptibility loci in 4,456 psoriasis cases and 6,027 controls of Chinese population using the MassARRAY system from Sequenom. We discovered three significant associations at rs6679677 on 1p13.2 (P = 6.15 × 10(-5) , OR = 5.07), rs16861329 on 3q27...
June 12, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28568286/rnaset2-gpr174-and-ptpn22-gene-polymorphisms-are-related-to-the-risk-of-liver-damage-associated-with-the-hyperthyroidism-in-patients-with-graves-disease
#12
Qing Zhang, Shaozheng Liu, Yanxing Guan, Qingjie Chen, Qing Zhang, Xiang Min
OBJECTIVES: This study was designed to unveil the association of GPR174 rs3827440, PTPN22 rs3789604, and RNASET2 rs9355610 with the onset of liver damage (LD) among the Graves' disease (GD) patients. METHODS: A total of 120 GD patients were divided into the none-LD and LD groups. Several indicators were detected for assessing liver functions, and genotypes of single nucleotide polymorphisms (SNPs) were identified. Logistic regression was introduced for investigating the relationship between risk SNPs and LD-associated hyperthyroidism in GD patients...
May 31, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28555069/association-between-protein-tyrosine-phosphatase-non-receptor-type-22-ptpn22-polymorphisms-and-risk-of-ankylosing-spondylitis-a-meta-analysis
#13
Weiming Wang, Xiantao Meng, Yupeng Liu, Xiaojun Ma, Qian Zhang, Chunhui Li, Chenye Li, Liubao Ren
BACKGROUND Ankylosing spondylitis (AS) is a chronic autoimmune disease that involves the imbalance of peripheral tolerance possibly caused by the negative signal of activated T cells. The polymorphisms in the human protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene have been pointed out to be related to the pathogenesis of AS, but conclusions over this issue remain contradictory. We attempted to give a more precise conclusion about the effects of PTPN22 polymorphisms on AS risk by means of a meta-analysis...
May 30, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28545409/genetic-variation-and-expression-levels-of-tight-junction-genes-identifies-association-between-magi3-and-inflammatory-bowel-disease
#14
Elisabeth Norén, Sven Almer, Jan Söderman
BACKGROUND: Inflammatory bowel disease (IBD) is associated with increased intestinal permeability, which involves paracellular passage regulated through tight junctions (TJ). The aim of the study was to investigate single nucleotide polymorphisms (SNP) located in genes encoding interacting TJ proteins and corresponding expressions, in relation to IBD. METHODS: Allelic associations between TJ-related genes (F11R, MAGI1, MAGI2, MAGI3, PARD3, PTEN, and TJP1) and IBD, Crohn's disease (CD), or ulcerative colitis (UC) were investigated...
May 25, 2017: BMC Gastroenterology
https://www.readbyqxmd.com/read/28537236/-allelic-variants-of-immune-response-genes-in-children-with-infectious-complications-during-the-treatment-of-acute-leukemia
#15
M A Avdonina, I S Abramov, Y I Ammour, T V Nasedkina
Infectious complications that arise during the treatment of children with acute leukemia with chemotherapeutic agents at high doses represent a serious problem in oncohematology. To find genetic conditions that may lead to the development of postchemotherapy infections, the genomes of 12 children with acute leukemia who had severe infectious complications during therapy were examined. At the same time, the coding regions of 17 genes involved in the regulation of the immune response were determined by massive parallel sequencing...
March 2017: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/28528372/associations-between-ptpn22-and-tlr9-polymorphisms-and-systemic-lupus-erythematosus-a-comprehensive-meta-analysis
#16
Li-Ya Hu, Zhi Cheng, Bo Zhang, Qiong Yin, Xiao-Wei Zhu, Pian-Pian Zhao, Ming-Yu Han, Xiao-Bo Wang, Hou-Feng Zheng
Previous studies have explored the relationship of PTPN22 and TLR9 polymorphisms with systemic lupus erythematosus (SLE). In consideration of the population stratification, conflicting results and updating data, we conducted a comprehensive meta-analysis, which consists of a total of 17 research articles (9120 cases and 11,724 controls) for PTPN22 and 20 articles (including up to 2808 cases and 3386 controls) for TLR9. Significant association was verified between PTPN22 rs2476601 and SLE in the overall population (OR = 1...
August 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28527290/association-of-polymorphic-variants-of-ptpn22-tnf-and-vdr-genes-in-children-with-lupus-nephritis-a-study-in-colombian-family-triads
#17
Gloria Garavito, Eduardo Egea, Luis Fang, Clara Malagón, Carlos Olmos, Luz González, Pilar Guarnizo, Gustavo Aroca, Guillermo López, Antonio Iglesias
INTRODUCTION: Systemic lupus erythematosus is an autoimmune disease in which the severity varies according to race, sex and age of onset. This variation is also observed in the genetic markers associated with the disease, including PTPN22, VDR and TNF genes. The genetic stratification in different populations worldwide can influence the variability. OBJECTIVE: To analyze the heritability of PTPN22, VDR and TNF genetic variants and their association with pediatric lupus nephritis in Colombian families...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28522807/traf3-enhances-tcr-signaling-by-regulating-the-inhibitors-csk-and-ptpn22
#18
Alicia M Wallis, Ellie C Wallace, Bruce S Hostager, Zuoan Yi, Jon C D Houtman, Gail A Bishop
The adaptor protein TNF receptor associated factor (TRAF) 3 is required for effective TCR signaling and normal T cell effector functions, and associates with the CD3/CD28 complex upon activation. To determine how TRAF3 promotes proximal TCR signaling, we studied TRAF3-deficient mouse and human T cells, which showed a marked reduction in activating phosphorylation of the TCR-associated kinase Lck. The impact of TRAF3 on this very early signaling event led to the hypothesis that TRAF3 restrains one or both of two known inhibitors of Lck, C-terminal Src kinase (Csk) and protein tyrosine phosphatase N22 (PTPN22)...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28504962/association-of-stat4-and-ptpn22-polymorphisms-and-their-interactions-with-type-1-autoimmune-hepatitis-susceptibility-in-chinese-han-children
#19
Xiaofeng Li, Huiqin Chen, Yun Cai, Pingping Zhang, Zhuanggui Chen
AIMS: To investigate the impact of signal transducer and activator of transcription 4 (STAT4) and the protein tyrosine phosphatase N22 (PTPN22) gene single nucleotide polymorphisms (SNPs), gene- gene interactions and haplotype on type-1 Autoimmune Hepatitis (AIH) risk. RESULTS: Logistic regression analysis showed that type 1 AIH was significantly higher in carriers of T allele of rs7574865 than those with GG genotype (P- value less than 0.001), higher in carriers of C allele of rs7582694 than those with GG genotype (P- value < 0...
April 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28500376/the-ptpn22-r263q-polymorphism-confers-protection-against-systemic-lupus-erythematosus-and-rheumatoid-arthritis-while-ptpn22-r620w-confers-susceptibility-to-graves-disease-in-a-mexican-population
#20
Daniela Josabeth López-Cano, Daniel Cadena-Sandoval, Olga Beltrán-Ramírez, Rosa Elda Barbosa-Cobos, Fausto Sánchez-Muñoz, Luis Manuel Amezcua-Guerra, Yaneli Juárez-Vicuña, María Concepción Aguilera-Cartas, José Moreno, Jesús Bautista-Olvera, Guillermo Valencia-Pacheco, Ricardo F López-Villanueva, Julian Ramírez-Bello
OBJECTIVE: The functional PTPN22 R620W polymorphism (rs2476601) is clearly associated with susceptibility to several autoimmune diseases (ADs). However, the PTPN22 R263Q polymorphism (rs33996649) has been scarcely explored in different ADs. Here we aimed to examine the associations of the PTPN22 R620W and R263Q polymorphisms with susceptibility to or protection against rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and Graves' disease (GD) among Mexican patients. METHODS: We conducted a case-control study including 876 patients (405 with SLE, 388 with RA, and 83 with GD) and 336 healthy control individuals...
May 12, 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
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