keyword
MENU ▼
Read by QxMD icon Read
search

SLE genetics

keyword
https://www.readbyqxmd.com/read/28339495/microrna-expression-profiles-identify-disease-specific-alterations-in-systemic-lupus-erythematosus-and-primary-sj%C3%A3-gren-s-syndrome
#1
Ji-Qing Chen, Gábor Papp, Szilárd Póliska, Krisztina Szabó, Tünde Tarr, Bálint László Bálint, Péter Szodoray, Margit Zeher
The discovery of microRNAs (miRNAs) and their critical role in genetic control opened new avenues in understanding of various biological processes including immune cell lineage commitment, differentiation, proliferation and apoptosis. However, a given miRNA may have hundreds of different mRNA targets and a target might be regulated by multiple miRNAs, thus the characterisation of dysregulated miRNA expression profiles could give a better insight into the development of immunological disturbances in autoimmune diseases...
2017: PloS One
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/28263189/cd11b-activation-suppresses-tlr-dependent-inflammation-and-autoimmunity-in-systemic-lupus-erythematosus
#3
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
#4
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/28244652/association-of-leptin-and-leptin-receptor-gene-polymorphisms-with-systemic-lupus-erythematosus-in-a-chinese-population
#5
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/28229285/topics-on-vitamin-d-in-systemic-lupus-erythematosus-analysis-of-evidence-and-critical-literature-review
#6
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/28212922/organ-specific-biomarkers-in-lupus
#7
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
#8
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/28185859/association-of-irf5-polymorphisms-with-increased-risk-for-systemic-lupus-erythematosus-in-population-of-crete-a-southern-eastern-european-greek-island
#9
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/28148586/systemic-lupus-erythematosus
#10
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
#11
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
#12
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
#13
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...
March 2017: Nature Genetics
https://www.readbyqxmd.com/read/28128292/evaluation-of-10-sle-susceptibility-loci-in-asian-populations-which-were-initially-identified-in-european-populations
#14
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/28116652/does-parvovirus-infection-have-a-role-in-systemic-lupus-erythematosus
#15
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
#16
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
#17
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
https://www.readbyqxmd.com/read/28097447/mannose-binding-lectin-mbl-codon-54-rs1800450-polymorphism-predisposes-towards-medium-vessel-vasculitis-in-patients-with-systemic-lupus-erythematosus
#18
Vir Singh Negi, Panneer Devaraju, Durga Prasanna Misra, Vikramraj K Jain, Jignesh Babulal Usdadiya, Paul T Antony, Reena Gulati
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with multiple etiological factors. Mannose-binding lectin (MBL) plays a key role in innate immunity by activating antibody-independent lectin complement pathway, opsonisation, phagocytosis, and immune complex (IC) clearance. Genetic polymorphisms in the promoter and coding regions of MBL gene affect the circulatory levels and biological activity of MBL. Defects in MBL can lead to defective opsonisation and, hence, hamper clearance of apoptotic debris, the persistence of which can drive autoantibody formation in lupus...
January 17, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28094303/genetic-polymorphisms-of-rs3077-and-rs9277535-in-hla-dp-associated-with-systemic-lupus-erythematosus-in-a-chinese-population
#19
Junlong Zhang, Wenli Zhan, Bin Yang, Anning Tian, Lin Chen, Yun Liao, Yongkang Wu, Bei Cai, Lanlan Wang
Although the SLE risk gene loci of HLA-DR and HLA-DQ within the major histocompatibility complex (MHC) region has been gradually revealed by recent Genome-Wide Association studies (GWAS), the association of HLA-DP polymorphisms with SLE was minimally reported. Considering that the variants in rs3077 and rs9277535 in the HLA-DP region could influence the immune response by affecting antigen presentation of HLA class II molecules to CD4(+) T cells, the present study aimed to explore the role of HLA-DP polymorphisms in SLE...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28089979/quality-of-care-for-systemic-lupus-erythematosus-mind-the-knowledge-gap
#20
Vera Golder, Eric F Morand, Alberta Y Hoi
Systemic lupus erythematosus (SLE) is a prototypical chronic multiorgan autoimmune disorder that can lead to significant burden of disease and loss of life expectancy. The disease burden is the result of a complex interplay between genetic, biologic, socioeconomic, and health system variables affecting the individual. Recent advances in biological understanding of SLE are yet to translate to transformative therapies, and genetic and socioeconomic variables are not readily amenable to intervention. In contrast, healthcare quality, a variable readily amenable to change, has been inadequately addressed in SLE, despite evidence in other chronic diseases that quality of care is strongly associated with patient outcomes...
January 15, 2017: Journal of Rheumatology
keyword
keyword
57806
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"