keyword
MENU ▼
Read by QxMD icon Read
search

Genetic lupus

keyword
https://www.readbyqxmd.com/read/28229285/topics-on-vitamin-d-in-systemic-lupus-erythematosus-analysis-of-evidence-and-critical-literature-review
#1
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
#2
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
#3
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
#4
REVIEW
Haijing Wu, Jinrong Zeng, 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
#5
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
#6
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
#7
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...
February 6, 2017: Gene
https://www.readbyqxmd.com/read/28178208/effector-mechanisms-of-neutrophils-within-the-innate-immune-system-in-response-to-mycobacterium-tuberculosis-infection
#8
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
https://www.readbyqxmd.com/read/28176476/recurrent-atypical-haemolytic-uraemic-syndrome-post-kidney-transplant-due-to-a-cd46-mutation-in-the-setting-of-smarcal1-mediated-inherited-kidney-disease
#9
REVIEW
Samuel Chan, Andrew J Mallett, Chirag Patel, Ross S Francis, David W Johnson, David W Mudge, Nicole M Isbel
Disorders in the regulation of the alternate complement pathway often result in complement-mediated damage to the microvascular endothelium and can be associated with both glomerulonephritis and atypical haemolytic uraemic syndrome. Inherited defects in complement regulatory genes or autoantibodies against complement regulatory proteins are predictive of the severity of the disease and the risk of recurrence post kidney transplantation. Heterozygous mutations in CD46, which codes for a transmembrane cofactor glycoprotein membrane cofactor protein, usually have a lower incidence of end-stage kidney disease and decreased risk of recurrent disease post transplant, as wild-type membrane cofactor protein is present in the transplanted kidney...
February 2017: Nephrology
https://www.readbyqxmd.com/read/28173739/trigger-factors-of-cutaneous-lupus-erythematosus-a-review-of-current-literature
#10
J Szczęch, D Samotij, V P Werth, A Reich
It is currently believed that autoimmune conditions are triggered and aggravated by a variety of environmental factors such as cigarette smoking, infections, ultraviolet light or chemicals, as well as certain medications and vaccines in genetically susceptible individuals. Recent scientific data have suggested a relevant role of these factors not only in systemic lupus erythematosus, but also in cutaneous lupus erythematosus (CLE). A variety of environmental factors have been proposed as initiators and exacerbators of this disease...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28148586/systemic-lupus-erythematosus
#11
Maliha F Shaikh, Natasha Jordan, David P D'Cruz
Systemic lupus erythematosus (SLE) is a chronic multisystem autoimmune disease that is highly heterogeneous in its presentation. This can pose significant challenges for physicians responsible for the diagnosis and treatment of such patients. SLE arises from a combination of genetic, epigenetic and environmental factors. Pathologically, the disease is primarily driven by loss of immune tolerance and abnormal B- and T-cell function. Major organ involvement may lead to significant morbidity and mortality. Classification criteria for SLE have been developed largely for research purposes; however, these are also widely used in clinical practice...
February 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28144936/multiple-variants-in-5q31-1-are-associated-with-systemic-lupus-erythematosus-susceptibility-and-sub-phenotypes-in-the-han-chinese-population
#12
L Wen, Z Zhu, C Yang, L Liu, X Zuo, D L Morris, J Dou, L Ye, Y Cheng, H Guo, H Huang, Y Lin, C Zhu, L Tang, M Chen, Y Zhou, Y Ding, B Liang, F Zhou, J Gao, X Tang, X Zheng, W Wang, X Yin, H Tang, L Sun, S Yang, X Zhang, Y Sheng, Y Cui
BACKGROUND: A previous study provided evidence for genetic association between PPP2CA on 5q31.1 and systemic lupus erythematosus (SLE) across multi-ancestral cohorts, but failed to find significant evidence for association in the Chinese Han population. OBJECTIVE: To explore the association between this locus and SLE using data from our previously published genome-wide association study (GWAS) of SLE in Han Chinese population. METHODS: SNPs rs7726414 and rs244689 (near TCF7 and PPP2CA in 5q31...
February 1, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28137478/gender-balance-in-patients-with-systemic-lupus-erythematosus
#13
REVIEW
Audrey A Margery-Muir, Christine Bundell, Delia Nelson, David M Groth, John D Wetherall
Factors are reviewed that contribute to the contemporary view of a disproportionate prevalence and incidence of SLE in females. Recent studies on the epidemiology of SLE report that global incidences and prevalences of SLE for Caucasian and Black populations are of the order of 5.5 and 13.1 per year and 81 and 212 per 100,000 persons respectively. Both parameters displayed age dependent variation over a 90-year lifespan. The female to male (F:M) incidence of SLE varied with age, being approximately 1 during the first decade of life, followed by a sharp increase to 9 during the 4th decade, thence declining in subsequent decades before an increase during the 7th or 8th decade...
January 27, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28135245/a-missense-variant-in-ncf1-is-associated-with-susceptibility-to-multiple-autoimmune-diseases
#14
Jian Zhao, Jianyang Ma, Yun Deng, Jennifer A Kelly, Kwangwoo Kim, So-Young Bang, Hye-Soon Lee, Quan-Zhen Li, Edward K Wakeland, Rong Qiu, Mengru Liu, Jianping Guo, Zhanguo Li, Wenfeng Tan, Astrid Rasmussen, Christopher J Lessard, Kathy L Sivils, Bevra H Hahn, Jennifer M Grossman, Diane L Kamen, Gary S Gilkeson, Sang-Cheol Bae, Patrick M Gaffney, Nan Shen, Betty P Tsao
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a strong genetic component characterized by autoantibody production and a type I interferon signature. Here we report a missense variant (g.74779296G>A; p.Arg90His) in NCF1, encoding the p47(phox) subunit of the phagocyte NADPH oxidase (NOX2), as the putative underlying causal variant that drives a strong SLE-associated signal detected by the Immunochip in the GTF2IRD1-GTF2I region at 7q11.23 with a complex genomic structure. We show that the p...
January 30, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28128348/population-expansion-and-individual-age-affect-endoparasite-richness-and-diversity-in-a-recolonising-large-carnivore-population
#15
Ines Lesniak, Ilja Heckmann, Emanuel Heitlinger, Claudia A Szentiks, Carsten Nowak, Verena Harms, Anne Jarausch, Ilka Reinhardt, Gesa Kluth, Heribert Hofer, Oliver Krone
The recent recolonisation of the Central European lowland (CEL) by the grey wolf (Canis lupus) provides an excellent opportunity to study the effect of founder events on endoparasite diversity. Which role do prey and predator populations play in the re-establishment of endoparasite life cycles? Which intrinsic and extrinsic factors control individual endoparasite diversity in an expanding host population? In 53 individually known CEL wolves sampled in Germany, we revealed a community of four cestode, eight nematode, one trematode and 12 potential Sarcocystis species through molecular genetic techniques...
January 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28128292/evaluation-of-10-sle-susceptibility-loci-in-asian-populations-which-were-initially-identified-in-european-populations
#16
Yue-Miao Zhang, Xu-Jie Zhou, Swapan K Nath, Celi Sun, Ming-Hui Zhao, Hong Zhang
Ten novel loci have been found to be associated with systemic lupus erythematosus (SLE) susceptibility by a recent genome-wide association study conducted in Europeans. To test their disease associations and genetic similarities/differences in Asians and Europeans, we genotyped the 10 novel single nucleotide polymorphisms (SNPs) and performed an association study. A Chinese cohort from Northern China was recruited as the discovery population, and three East Asian cohorts were included for independent replication...
January 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28127155/the-histone-modification-code-in-the-pathogenesis-of-autoimmune-diseases
#17
REVIEW
Yasuto Araki, Toshihide Mimura
Autoimmune diseases are chronic inflammatory disorders caused by a loss of self-tolerance, which is characterized by the appearance of autoantibodies and/or autoreactive lymphocytes and the impaired suppressive function of regulatory T cells. The pathogenesis of autoimmune diseases is extremely complex and remains largely unknown. Recent advances indicate that environmental factors trigger autoimmune diseases in genetically predisposed individuals. In addition, accumulating results have indicated a potential role of epigenetic mechanisms, such as histone modifications, in the development of autoimmune diseases...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28116652/does-parvovirus-infection-have-a-role-in-systemic-lupus-erythematosus
#18
Tami Hod, Giselle Zandman-Goddard, Pnina Langevitz, Hagit Rudnic, Zehava Grossman, Pnina Rotman-Pikielny, Yair Levy
We sought to evaluate a possible link between parvovirus B19 infection and the clinical and laboratory expression of systemic lupus erythematosus (SLE). SLE patients were examined to evaluate their clinical status and disease activity. A complete Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) score was obtained for each patient. In addition, we determined the level of systemic involvement throughout the course of the disease. Blood levels of IgM and IgG antibodies to parvovirus B19, levels of anti-dsDNA, C3, and C4 were measured...
January 23, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28108556/confirmation-of-five-novel-susceptibility-loci-for-systemic-lupus-erythematosus-sle-and-integrated-network-analysis-of-82-sle-susceptibility-loci
#19
Julio E Molineros, Wanling Yang, Xu-Jie Zhou, Celi Sun, Yukinori Okada, Huoru Zhang, Kek Heng Chua, Yu-Lung Lau, Yuta Kochi, Akari Suzuki, Kazuhiko Yamamoto, Jianyang Ma, So-Young Bang, Hye-Soon Lee, Kwangwoo Kim, Sang-Cheol Bae, Hong Zhang, Nan Shen, Loren L Looger, Swapan K Nath
We recently identified ten novel SLE susceptibility loci in Asians and uncovered several additional suggestive loci requiring further validation. This study aimed to replicate five of these suggestive loci in a Han Chinese cohort from Hong Kong, followed by meta-analysis (11,656 cases and 23,968 controls) on previously reported Asian and European populations, and perform bioinformatic analyses on all 82 reported SLE loci to identify shared regulatory signatures. We performed a battery of analyses for these five loci, as well as joint analyses on all 82 SLE loci...
January 20, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28099919/autophagy-related-gene-lrrk2-is-likely-a-susceptibility-gene-for-systemic-lupus-erythematosus-in-northern-han-chinese
#20
Yue-Miao Zhang, Xu-Jie Zhou, Fa-Juan Cheng, Yuan-Yuan Qi, Ping Hou, Ming-Hui Zhao, Hong Zhang
Autophagy is associated with various immune diseases, including systemic lupus erythematosus (SLE). Seven variants within autophagy-related genes previously reported to show top association signals by genome-wide association studies in immune diseases were selected for analysis. Initially, 510 SLE patients (631 controls) were enrolled in the study. An additional independent cohort of 511 SLE patients (687 controls) was included for replication. Polymorphism rs2638272 in LRRK2 gene showed significant association with susceptibility to SLE (P = 1...
January 13, 2017: Oncotarget
keyword
keyword
93837
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"