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Genetic lupus

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https://www.readbyqxmd.com/read/28302420/a-cryptic-mitochondrial-dna-link-between-north-european-and-west-african-dogs
#1
Adeniyi C Adeola, Sheila C Ommeh, Jiao-Jiao Song, S Charles Olaogun, Oscar J Sanke, Ting-Ting Yin, Guo-Dong Wang, Shi-Fang Wu, Zhong-Yin Zhou, Jacqueline K Lichoti, Bernard R Agwanda, Philip M Dawuda, Robert W Murphy, Min-Sheng Peng, Ya-Ping Zhang
Domestic dogs have an ancient origin and a long history in Africa. Nevertheless, the timing and sources of their introduction into Africa remain enigmatic. Herein, we analyse variation in mitochondrial DNA (mtDNA) D-loop sequences from 345 Nigerian and 37 Kenyan village dogs plus 1530 published sequences of dogs from other parts of Africa, Europe and West Asia. All Kenyan dogs can be assigned to one of three haplogroups (matrilines; clades): A, B, and C, while Nigerian dogs can be assigned to one of four haplogroups A, B, C, and D...
November 24, 2016: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28298568/comparison-of-disease-characteristics-organ-damage-and-survival-in-patients-with-juvenile-onset-and-adult-onset-systemic-lupus-erythematosus-in-a-combined-cohort-from-2-tertiary-centers-in-turkey
#2
Bahar Artim-Esen, Sezgin Şahin, Erhan Çene, Yasemin Şahinkaya, Kenan Barut, Amra Adrovic, Yasemin Özlük, Işın Kılıçaslan, Ahmet Omma, Ahmet Gül, Lale Öcal, Özgür Kasapçopur, Murat İnanç
OBJECTIVE: Age at onset has been shown to affect the clinical course and outcome of systemic lupus erythematosus (SLE). Herein, we aimed to define the differences in clinical characteristics, organ damage, and survival between patients with juvenile-onset (jSLE) and adult-onset SLE (aSLE). METHODS: For the study, 719 patients (76.9%) with aSLE and 216 (23.1%) with jSLE were examined. Comparisons between the groups were made for demographic characteristics, clinical features, autoantibody profiles, damage, and survival rates...
March 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28296250/different-genetic-alteration-of-a20-in-a-s%C3%A3-zary-syndrome-case-with-v%C3%AE-2-j%C3%AE-22-t-cell-clone
#3
Lingling Zhou, Haitao Zheng, Xin Huang, Lihua Zhu, Suijing Wu, Chengwu Zeng, Lijian Yang, Shaohua Chen, Gengxin Luo, Xin Du, Yangqiu Li
BACKGROUND: The comprehensive genetic alterations underlying the pathogenesis of Sézary syndrome (SS) remains largely unknown. Previous studies showed that alterations of tumor necrosis factor-α-induced protein 3 gene (TNFAIP3; A20) are frequent in SS. In this study, we characterized the mutation and polymorphisms of A20 in a case with SS and compared with the genetic feature of A20 in T-cell acute lymphoblastic leukemia (T-ALL). METHODS: Using a novel approach based on the combination of fine-tiling array comparative genomic hybridization ( and ligation-mediated polymerase chain reaction (LM-PCR) to identify SS clone, the polymorphisms in the A20 gene (promoter, exons 2-9 [coding region] and 3'UTR) were detected by PCR and sequencing...
March 14, 2017: Asia-Pacific Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28289923/tocilizumab-reverses-cerebral-vasculopathy-in-a-patient-with-homozygous-samhd1-mutation
#4
REVIEW
Michael Henrickson, Heng Wang
An auto-inflammatory syndrome consequent to SAMHD1 mutations involves cerebral vasculopathy characterized by multifocal stenosis and aneurysms within large arteries, moyamoya, chronic ischemia, and early-onset strokes (SAMS). While this condition involves the innate immune system, additional clinical features mimic systemic lupus erythematosus. Mutations in this gene can also cause a subset of the rare genetic condition Aicardi-Goutières syndrome. To date, no established therapy successfully prevents disease progression...
March 13, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28278279/toll-like-receptor-9-suppresses-lupus-disease-in-fas-sufficient-mrl-mice
#5
Kevin M Nickerson, Yujuan Wang, Sheldon Bastacky, Mark J Shlomchik
Genetic deficiency in TLR9 accelerates pathogenesis in the spontaneous polygenic MRL.Faslpr murine model of systemic lupus erythematosus, despite the absence of anti-nucleosome autoantibodies. However, it could be argued that this result was dependent on Fas-deficiency rather than lupus-promoting genes in the MRL genetic background. Here we report the effects of TLR9 deficiency on autoimmune disease independent of the lpr mutation in Fas by characterizing Tlr9-/- and Tlr9+/+ mice on the Fas-intact MRL/+ genetic background...
2017: PloS One
https://www.readbyqxmd.com/read/28273134/gene-set-meta-analysis-of-lung-cancer-identifies-pathway-related-to-systemic-lupus-erythematosus
#6
Albert Rosenberger, Melanie Sohns, Stefanie Friedrichs, Rayjean J Hung, Gord Fehringer, John McLaughlin, Christopher I Amos, Paul Brennan, Angela Risch, Irene Brüske, Neil E Caporaso, Maria Teresa Landi, David C Christiani, Yongyue Wei, Heike Bickeböller
INTRODUCTION: Gene-set analysis (GSA) is an approach using the results of single-marker genome-wide association studies when investigating pathways as a whole with respect to the genetic basis of a disease. METHODS: We performed a meta-analysis of seven GSAs for lung cancer, applying the method META-GSA. Overall, the information taken from 11,365 cases and 22,505 controls from within the TRICL/ILCCO consortia was used to investigate a total of 234 pathways from the Kyoto Encyclopedia of Genes and Genomes (KEGG) database...
2017: PloS One
https://www.readbyqxmd.com/read/28270202/rheumatology-in-africa-challenges-and-opportunities
#7
EDITORIAL
Girish M Mody
Africa faces many health challenges despite sustained growth and development over the past decade. Contributory factors are the lack of financial resources, an inadequate health professional workforce, a high burden of communicable diseases, and an increasing burden of non-communicable diseases. Rheumatology services are limited or non-existent in many parts of sub-Saharan Africa. Over the past decade, partnerships with international academic institutions have resulted in some progress in the training of rheumatologists and health professionals and development of rheumatology services in countries such as Kenya, Nigeria, and Zambia...
March 7, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28263189/cd11b-activation-suppresses-tlr-dependent-inflammation-and-autoimmunity-in-systemic-lupus-erythematosus
#8
Mohd Hafeez Faridi, Samia Q Khan, Wenpu Zhao, Ha Won Lee, Mehmet M Altintas, Kun Zhang, Vinay Kumar, Andrew R Armstrong, Carmelo Carmona-Rivera, Jessica M Dorschner, Abigail M Schnaith, Xiaobo Li, Yogita Ghodke-Puranik, Erica Moore, Monica Purmalek, Jorge Irizarry-Caro, Tingting Zhang, Rachael Day, Darren Stoub, Victoria Hoffmann, Shehryar Jehangir Khaliqdina, Prachal Bhargava, Ana M Santander, Marta Torroella-Kouri, Biju Issac, David J Cimbaluk, Andrew Zloza, Rajeev Prabhakar, Shashank Deep, Meenakshi Jolly, Kwi Hye Koh, Jonathan S Reichner, Elizabeth M Bradshaw, JianFeng Chen, Luis F Moita, Peter S Yuen, Wanxia Li Tsai, Bhupinder Singh, Jochen Reiser, Swapan K Nath, Timothy B Niewold, Roberto I Vazquez-Padron, Mariana J Kaplan, Vineet Gupta
Genetic variations in the ITGAM gene (encoding CD11b) strongly associate with risk for systemic lupus erythematosus (SLE). Here we have shown that 3 nonsynonymous ITGAM variants that produce defective CD11b associate with elevated levels of type I interferon (IFN-I) in lupus, suggesting a direct link between reduced CD11b activity and the chronically increased inflammatory status in patients. Treatment with the small-molecule CD11b agonist LA1 led to partial integrin activation, reduced IFN-I responses in WT but not CD11b-deficient mice, and protected lupus-prone MRL/Lpr mice from end-organ injury...
March 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28246883/novel-linkage-disequilibrium-clustering-algorithm-identifies-new-lupus-genes-on-meta-analysis-of-gwas-datasets
#9
Mohammad Saeed
Systemic lupus erythematosus (SLE) is a complex disorder. Genetic association studies of complex disorders suffer from the following three major issues: phenotypic heterogeneity, false positive (type I error), and false negative (type II error) results. Hence, genes with low to moderate effects are missed in standard analyses, especially after statistical corrections. OASIS is a novel linkage disequilibrium clustering algorithm that can potentially address false positives and negatives in genome-wide association studies (GWAS) of complex disorders such as SLE...
February 28, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28246264/sex-differential-association-of-dermatomyositis-with-sj%C3%A3-gren-syndrome
#10
Chia-Chun Tseng, Shun-Jen Chang, Wen-Chan Tsai, Tsan-Teng Ou, Cheng-Chin Wu, Wan-Yu Sung, Ming-Chia Hsieh, Jeng-Hsien Yen
BACKGROUND: Although dermatomyositis and Sjögren syndrome share serologic autoantibodies and genetic polymorphisms, population data about the incidence of Sjögren syndrome in patients with dermatomyositis is unavailable. We performed a nationwide cohort study to explore the potential relation between dermatomyositis and Sjögren syndrome and, if an association exists, to elucidate whether it varies by sex. METHODS: We identified all patients with newly diagnosed dermatomyositis from the Registry of Catastrophic Illness Database in Taiwan between Jan...
February 6, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28244652/association-of-leptin-and-leptin-receptor-gene-polymorphisms-with-systemic-lupus-erythematosus-in-a-chinese-population
#11
Hong-Miao Li, Tian-Ping Zhang, Rui-Xue Leng, Xiang-Pei Li, De-Guang Wang, Xiao-Mei Li, Dong-Qing Ye, Hai-Feng Pan
To explore the association of LEP and leptin receptor (LEPR) gene single-nucleotide polymorphisms (SNPs) with susceptibility to systemic lupus erythematosus (SLE) in a Chinese population. Four LEP SNPs (rs11761556, rs12706832, rs2071045 and rs2167270) and nine LEPR SNPs (rs10749754, rs1137100, rs1137101, rs13306519, rs8179183, rs1805096, rs3790434, rs3806318 and rs7518632) were genotyped in a cohort of 633 patients with SLE and 559 healthy controls. Genotyping of SNPs was performed with improved multiple ligase detection reaction (iMLDR)...
February 28, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28239687/protein-phosphatase-5-contributes-to-the-overexpression-of-epigenetically-regulated-t-lymphocyte-genes-in-patients-with-lupus
#12
D Patel, G Gorelik, B Richardson
OBJECTIVE: Lupus develops when genetically predisposed people encounter certain drugs or environmental agents causing oxidative stress such as infections and sun exposure, and then typically follows a chronic relapsing course with flares triggered by the exogenous stressors. Current evidence indicates that these environmental agents can trigger lupus flares by inhibiting the replication of DNA methylation patterns during mitosis in CD4(+) T cells, altering the expression of genes suppressed by this mechanism that convert normal "helper" cells into auto reactive cells which promote lupus flares...
December 2016: Lupus (Los Angel)
https://www.readbyqxmd.com/read/28229285/topics-on-vitamin-d-in-systemic-lupus-erythematosus-analysis-of-evidence-and-critical-literature-review
#13
António Marinho, Mariana Taveira, Carlos Vasconcelos
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with multiorgan inflammation, linked to the loss of immune tolerance to self-antigens and the production of a diversity of autoantibodies. The phenotype and progression of SLE have been linked to a combination of environmental, genetic, and hormonal factors. One such environmental factor is vitamin D, a vital hormone with well-established effects on mineral metabolism, skeletal health, and effects on cardiovascular system. The purpose of this article is to make the analysis of evidence and literature review of the pleomorphic effects of Vitamin D in SLE...
February 22, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28216098/potential-influences-of-complement-factor-h-in-autoimmune-inflammatory-and-thrombotic-disorders
#14
Janez Ferluga, Lubna Kouser, Valarmathy Murugaiah, Robert B Sim, Uday Kishore
Complement system homeostasis is important for host self-protection and anti-microbial immune surveillance, and recent research indicates roles in tissue development and remodelling. Complement also appears to have several points of interaction with the blood coagulation system. Deficiency and altered function due to gene mutations and polymorphisms in complement effectors and regulators, including Factor H, have been associated with familial and sporadic autoimmune inflammatory - thrombotic disorders, in which autoantibodies play a part...
February 16, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28215875/occurrence-and-molecular-genotyping-of-giardia-duodenalis-and-cryptosporidium-spp-in-wild-mesocarnivores-in-spain
#15
Marta Mateo, Marta Hernández de Mingo, Aida de Lucio, Lucía Morales, Ana Balseiro, Alberto Espí, Marta Barral, José Francisco Lima Barbero, Miguel Ángel Habela, José L Fernández-García, Rafael Calero Bernal, Pamela C Köster, Guillermo A Cardona, David Carmena
There is a surprisingly scarce amount of epidemiological and molecular data on the prevalence, frequency, and diversity of the intestinal protozoan parasites Giardia duodenalis and Cryptosporidium spp. in wildlife in general and mesocarnivore species in particular. Consequently, the extent of the cyst/oocyst environmental contamination attributable to these wild host species and their potential implications for public veterinary health remain largely unknown. In this molecular epidemiological survey a total of 193 individual faecal samples from badgers (Meles meles, n=70), ferrets (Mustela putorius furo, n=2), genets (Genetta genetta, n=6), Iberian lynxes (Lynx pardinus, n=6), beech martens (Martes foina, n=8), mongooses (Herpestes ichneumon, n=2), otters (Lutra lutra, n=2), polecats (Mustela putorius, n=2), red foxes (Vulpes vulpes, n=87), wildcats (Felis silvestris, n=2), and wolves (Canis lupus, n=6) were obtained from road-killed, hunted, and accidentally found carcasses, and from camera-trap surveys or animals entering rescue shelters, during the period December 2003-April 2016...
February 15, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28212922/organ-specific-biomarkers-in-lupus
#16
REVIEW
Haijing Wu, Jinrong Zeng, Jinghua Yin, Qiao Peng, Ming Zhao, Qianjin Lu
Systemic lupus erythematosus (SLE) is a complex and highly heterogeneous disease, which affects multiple organs, including joints, skin, kidneys, heart, hematopoietic system, and nerve system. While the etiopathogenesis of SLE still remains unclear, genetic susceptibilities and aberrant epigenetic modifications are believed to be involved. For precision therapy, it is necessary to assess accurately and objectively organ involvements and disease activity, which is difficult by current clinical laboratory tests...
February 14, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28198159/meta-analysis-of-associations-between-xrcc1-gene-polymorphisms-and-susceptibility-to-systemic-lupus-erythematosus-and-rheumatoid-arthritis
#17
Ming-Yue Zhang, Xiao-Ke Yang, Tian-Tian Lv, Jun Wu, Shu-Zhen Xu, Jie-Bing Wang, Hai-Feng Pan, Dong-Qing Ye
OBJECTIVE: To determine whether X-ray repair cross-complementing group 1 (XRCC1) gene polymorphisms confer susceptibility to systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). A meta-analysis was conducted to determine the associations between XRCC1 gene polymorphisms and susceptibility to SLE and RA. METHODS: A systematic literature search was conducted to identify all relevant studies. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the strength of the association...
February 15, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28196317/common-skin-conditions-in-children-noninfectious-rashes
#18
Brian Z Rayala, Dean S Morrell
Cutaneous adverse drug reactions are among the most common noninfectious rashes of childhood. Cutaneous adverse drug reactions are classified as morbilliform, urticarial, bullous, pustular, or psoriasiform. Atopic dermatitis is one of the most common inflammatory cutaneous eruptions, and is characterized by pruritus and flexural distribution. Emollients and topical corticosteroids are first-line therapies. Topical calcineurin inhibitors are second-line, steroid-sparing drugs for certain conditions, such as face and eyelid eczema...
February 2017: FP Essentials
https://www.readbyqxmd.com/read/28185859/association-of-irf5-polymorphisms-with-increased-risk-for-systemic-lupus-erythematosus-in-population-of-crete-a-southern-eastern-european-greek-island
#19
M I Zervou, J M Dorschner, Y Ghodke-Puranik, D T Boumpas, T B Niewold, G N Goulielmos
Interferon regulatory factor 5 (IRF5) regulates type I interferon (IFN)-responsive genes, and has been one of the most consistently associated genes with systemic lupus erythematosus (SLE). We sought to investigate whether IRF5 haplotypes are associated with risk for SLE in the genetically homogeneous Greek population of the island of Crete, as well as whether these haplotypes are associated with increased type I IFN. 322 SLE patients and 247 healthy controls from Crete were genotyped for rs2004640, rs3807306, rs10488631 and rs2280714 SNPs of IRF5 gene by using Taqman primer-probe sets...
April 30, 2017: Gene
https://www.readbyqxmd.com/read/28178208/effector-mechanisms-of-neutrophils-within-the-innate-immune-system-in-response-to-mycobacterium-tuberculosis-infection
#20
REVIEW
Eric Warren, Garrett Teskey, Vishwanath Venketaraman
Neutrophils have a significant yet controversial role in the innate immune response to Mycobacterium tuberculosis (M. tb) infection, which is not yet fully understood. In addition to neutrophils' well-known effector mechanisms, they may also help control infection of M. tb through the formation of neutrophil extracellular traps (NETs), which are thought to further promote the killing of M. tb by resident alveolar macrophages. Cytokines such as IFN-γ have now been shown to serve an immunomodulatory role in neutrophil functioning in conjunction to its pro-inflammatory function...
February 7, 2017: Journal of Clinical Medicine
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