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genetic susceptibility

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https://www.readbyqxmd.com/read/28742417/mica-129met-val-polymorphism-is-associated-with-early-onset-breast-cancer-risk
#1
Nesrine Ouni, Arij Ben Chaaben, Ghalia Kablouti, Mohamed Lajnef, Fayza Ayari, Hajer Abaza, Tarek Damak, Latifa Harzallah, Amel Benammar-Elgaaeid, Fethi Guemira, Ryad Tamouza
The major histocompatibility complex class I-related chain A (MICA), expressed on cell surface, plays an important role in the elimination of both virus-infected cells and tumor through the activation of the natural killer (NK) receptor NKG2D. A polymorphic change from methionine (Met) to valine (Val) at amino acid position 129 categorizes MICA alleles into strong and weak binders for the NKG2D receptor and has been found in a variety of immune-related disorders. In this study, we investigated the potential interaction between genetic polymorphism of MICA and the development of breast cancer...
July 25, 2017: Immunological Investigations
https://www.readbyqxmd.com/read/28742407/tlr5-polymorphisms-rs2072493-rs5744174-and-rs5744168-are-not-genetic-risk-factors-for-chronic-helicobacter-pylori-infection-in-indian-tamils
#2
Vaishnavi Goda, Megala Jayaraman, Rekha Loganathan, Mehnaz Nazeer, Mohammed Ali, Premkumar Karunakaran, Panneer Devaraju
The incidence of Helicobacter pylori (H. pylori) infection and gastric cancer is on the rise in India, and the genetic factors influencing the increased susceptibility in Indian population remain obscure. Toll-like receptors (TLRs) play a major role in innate immune system and genetic polymorphisms affecting their function were reported to enhance the risk for H. pylori infection. Seventy-seven patients (n = 77) diagnosed with H. pylori infection and 230 healthy subjects were recruited in this study. The rs2072493, rs5744174, and rs5744168 polymorphisms within TLR5 gene were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and Tetra-ARMS PCR genotyping techniques...
July 25, 2017: Immunological Investigations
https://www.readbyqxmd.com/read/28742404/pregnane-x-receptor-polymorphisms-and-risk-of-inflammatory-bowel-disease-a-meta-analysis
#3
Xiaolan Guo, Ming Yan
BACKGROUND: Pregnane X receptor (PXR) gene polymorphisms have been widely studied in terms of the association with inflammatory bowel disease (IBD), with inconsistent results. OBJECTIVE: The present meta-analysis was performed to assess the association between PXR gene polymorphisms and the susceptibility of IBD, Crohn's disease (CD), and ulcerative colitis (UC). METHODS: PubMed, Wanfang, and CNKI databases were searched for eligible studies before November 1, 2016...
July 25, 2017: Immunological Investigations
https://www.readbyqxmd.com/read/28742285/variable-expressivity-and-incomplete-penetrance-in-a-large-family-with-non-classical-diamond-blackfan-anemia-associated-with-ribosomal-protein-l11-splicing-variant
#4
Colleen M Carlston, Zeinab A Afify, Janice C Palumbos, Heidi Bagley, Carlos Barbagelata, Whitney L Wooderchak-Donahue, Rong Mao, John C Carey
Diamond-Blackfan anemia (DBA) is a group of clinically and genetically heterogeneous bone marrow failure disorders with or without congenital anomalies. Variable expressivity and incomplete penetrance have been observed within affected families. Diamond-Blackfan anemia-7 (DBA7), caused by heterozygous mutations in ribosomal protein L11 (RPL11), accounts for approximately 5% of DBA. DBA7 is usually characterized by early-onset bone marrow failure often accompanied by congenital malformations, especially thumb defects...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742119/doestrare-a-statistical-test-to-identify-local-enrichments-in-rare-genomic-variants-associated-with-disease
#5
Elodie Persyn, Matilde Karakachoff, Solena Le Scouarnec, Camille Le Clézio, Dominique Campion, French Exome Consortium, Jean-Jacques Schott, Richard Redon, Lise Bellanger, Christian Dina
Next-generation sequencing technologies made it possible to assay the effect of rare variants on complex diseases. As an extension of the "common disease-common variant" paradigm, rare variant studies are necessary to get a more complete insight into the genetic architecture of human traits. Association studies of these rare variations show new challenges in terms of statistical analysis. Due to their low frequency, rare variants must be tested by groups. This approach is then hindered by the fact that an unknown proportion of the variants could be neutral...
2017: PloS One
https://www.readbyqxmd.com/read/28741852/polymorphisms-of-mir-146a-mir-149-mir-196a2-and-mir-499-are-associated-with-osteoporotic-vertebral-compression-fractures-in-korean-postmenopausal-women
#6
Tae-Keun Ahn, Jung-Oh Kim, Hemant Kumar, Hyemi Choi, Min-Jae Jo, Seil Sohn, Alexander E Ropper, Nam-Keun Kim, In-Bo Han
Genetic factors have been shown to be a small but significant predictor for osteoporosis and osteoporotic fracture risk. We performed a case-control association study to determine the association between miR-146a, miR-149, miR-196a2 and miR-499 polymorphisms and osteoporotic vertebral compression fracture (OVCF) susceptibility. In total, 286 unrelated postmenopausal Korean women (57 with OVCFs, 55 with non-OVCFs, and 174 healthy controls) were recruited. All subjects underwent dual energy X-ray absorptiometry to determine BMD at the lumbar spine and femoral neck...
July 25, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28741671/the-impact-of-foxp3-polymorphism-on-the-risk-of-allergic-rhinitis-a-meta-analysis
#7
Guimin Zhang, Di Zhang, Wenjie Shi, Peiyong Sun, Peng Lin
Polymorphisms of several genes were reported to be associated with the risk of allergic rhinitis. Here, we first conducted a meta-analysis to evaluate the potential genetic association between the polymorphisms of the FOXP3 (Forkhead Box P3) gene and the susceptibility to allergic rhinitis. A total of 2671 relevant articles were initially retrieved from the databases of PubMed, Web of Science, Embase, WANFANG/CNKI and Scopus, and six eligible case-control studies were finally enrolled in our meta-analysis, according to our strict inclusion/exclusion criteria...
July 25, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28741378/procainamide-induced-autoimmunity-relationship-to-t-helper-2-type-t-cell-activation
#8
Y Huang, Z Lin, Y Huo, X Geng, M Li, Y Yang, B Li
Drug-induced autoimmunity (DIA) refers to a group of adverse drug reactions, and they remain unpredictable largely due to the limited understanding of the mechanisms involved. There is evidence that procainamide can cause autoimmune reactions in humans but the mechanisms involved remain unclear. To examine the cellular and genetic factors involved in the procainamide-induced autoimmune response, we compared rats that are genetically T-helper (Th)2-predisposed (Brown Norway (BN)), Th1-predisposed (Lewis (LEW)) or not genetically predisposed (Sprague Dawley (SD))...
January 1, 2017: Human & Experimental Toxicology
https://www.readbyqxmd.com/read/28741130/epigenetic-involvement-in-etiopathogenesis-and-implications-in-treatment-of-systemic-lupus-erythematous
#9
REVIEW
Arron Munggela Foma, Saeed Aslani, Jafar Karami, Ahmadreza Jamshidi, Mahdi Mahmoudi
BACKGROUND: Recent researches in the field of genetics have extended our knowledge through the discovery of genetic factors associated with autoimmune diseases (AID). Genetics by itself, however, cannot elucidate all the uncertainties encountered in the etiopathology of AID. On the other hand, incomplete harmony in the prevalence of AID in identical twins suggests that non-genetic factors may play an important role in determining the disease susceptibility. Besides, epigenetics, which is defined by changes in gene expression without a corresponding change in the DNA sequences, has come in to provide new awareness in the disease etiopathology by bridging the genetic and epigenetic factors...
July 24, 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/28739779/in-vitro-drug-susceptibility-of-bedaquiline-delamanid-linezolid-clofazimine-moxifloxacin-and-gatifloxacin-against-extensively-drug-resistant-tuberculosis-from-beijing-china
#10
Yu Pang, Zhaojing Zong, Fengmin Huo, Wei Jing, Yifeng Ma, Lingling Dong, Yunxu Li, Liping Zhao, Yuhong Fu, Hairong Huang
Extensively drug-resistant tuberculosis (XDR-TB) is a deadly form of TB that can be incurable due to its extreme drug resistance. In this study, we aimed to explore in vitro drug susceptibility of bedaquiline (BDQ), delamanid (DMD), linezolid (LZD), clofazimine (CLO), moxifloxacin (MXF), and gatifloxacin (GAT) against 90 XDR-TB strains isolated from patients in China. We also described the genetic characteristics of XDR-TB isolates with acquired drug resistance. Resistance to MFX, GAT, LZD, CLO, DMD and BDQ was found in 82 (91...
July 24, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28739600/whole-genome-sequencing-and-concordance-between-antimicrobial-susceptibility-genotypes-and-phenotypes-of-bacterial-isolates-associated-with-bovine-respiratory-disease
#11
Joseph R Owen, Noelle Noyes, Amy E Young, Daniel J Prince, Patricia C Blanchard, Terry W Lehenbauer, Sharif S Aly, Jessica H Davis, Sean M O'Rourke, Zaid Abdo, Keith Belk, Michael R Miller, Paul Morley, Alison Van Eenennaam
Extended laboratory culture and antimicrobial susceptibility testing timelines hinder rapid species identification and susceptibility profiling of bacterial pathogens associated with bovine respiratory disease, the most prevalent cause of cattle mortality in the United States. Whole genome sequencing offers a culture-independent alternative to current bacterial identification methods but requires a library of bacterial reference genomes for comparison. To contribute new bacterial genome assemblies and evaluate genetic diversity and variation in antimicrobial resistance genotypes, whole-genome sequencing was performed on bovine respiratory disease associated bacterial isolates (Histophilus somni, Mycoplasma bovis, Mannheimia haemolytica, and Pasteurella multocida) from dairy and beef cattle...
July 24, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28739347/association-of-vitamin-d-receptor-gene-polymorphism-in-patients-with-type-2-diabetes-in-the-kashmir-valley
#12
Rawoof Malik, Rabia Farooq, Promela Mehta, Sheikh Ishaq, Insha Din, Parvaiz Shah, Sabhiya Majid
OBJECTIVES: Approx 1 billion people across various ethnic and age groups have vitamin D deficiency. The high prevalence of such a deficiency is an imperative public health issue because hypovitaminosis D is an autonomous risk factor for mortality in the general population. Beyond bone integrity and calcium homeostasis, it is involved in numerous physiologic and pathologic processes. The role of vitamin D in the pathogenesis and prevention of type 2 diabetes mellitus has sparked universal interest...
July 21, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28739228/listeria-monocytogenes-in-raw-milk-milking-equipment-and-dairy-workers-molecular-characterization-and-antimicrobial-resistance-patterns
#13
Asmaa B M B Tahoun, Rasha M M Abou Elez, Eman N Abdelfatah, Ibrahim Elsohaby, Attia A El-Gedawy, Ahmed M Elmoslemany
OBJECTIVES: The aim of this study was to evaluate the genetic relatedness and patterns of antimicrobial resistance amongst L. monocytogenes isolated from raw milk, milking equipment, and hand swabs from farm workers in dairy farms. METHODS: A total of 300 samples of raw milk, milking equipment, and hand swabs were collected from four dairy farms to examine the presence of Listeria species. Suspected isolates were further identified by VITEK-2 system and Polymerase Chain Reaction (PCR)...
July 21, 2017: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/28739222/biomarkers-of-cancer-cachexia
#14
REVIEW
Audrey Loumaye, Jean-Paul Thissen
Cachexia is a complex multifactorial syndrome, characterized by loss of skeletal muscle and fat mass, which affects the majority of advanced cancer patients and is associated with poor prognosis. Interestingly, reversing muscle loss in animal models of cancer cachexia leads to prolong survival. Therefore, detecting cachexia and maintaining muscle mass represent a major goal in the care of cancer patients. However, early diagnosis of cancer cachexia is currently limited for several reasons. Indeed, cachexia development is variable according to tumor and host characteristics...
July 21, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28738977/glutathione-peroxidase-3-gene-polymorphisms-and-the-risk-of-sudden-sensorineural-hearing-loss
#15
Chen-Yu Chien, Tzu-Yen Huang, Shu-Yu Tai, Ning-Chia Chang, Hsun-Mo Wang, Ling-Feng Wang, Kuen-Yao Ho
The glutathione peroxidase 3 gene (GPX3) is reported to be a risk factor for arterial ischaemic stroke and cerebral venous thrombosis. GPX3 may be one of the aetiologies of sudden sensorineural hearing loss (SSNHL), which might be attributed to the genetic effect of GPX3 by influence reactive oxygen species (ROS). Unbalanced ROS have been associated with susceptibility to SSNHL. Therefore, we conducted a case-control study with 416 SSNHL cases and 255 controls. Five single nucleotide polymorphisms (SNPs) were selected...
July 2017: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/28738859/genes-and-pathways-underlying-susceptibility-to-impaired-lung-function-in-the-context-of-environmental-tobacco-smoke-exposure
#16
K de Jong, J M Vonk, M Imboden, L Lahousse, A Hofman, G G Brusselle, N M Probst-Hensch, D S Postma, H M Boezen
BACKGROUND: Studies aiming to assess genetic susceptibility for impaired lung function levels upon exposure to environmental tobacco smoke (ETS) have thus far focused on candidate-genes selected based on a-priori knowledge of potentially relevant biological pathways, such as glutathione S-transferases and ADAM33. By using a hypothesis-free approach, we aimed to identify novel susceptibility loci, and additionally explored biological pathways potentially underlying this susceptibility to impaired lung function in the context of ETS exposure...
July 24, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28738847/longitudinal-genomic-surveillance-of-multidrug-resistant-escherichia-coli-carriage-in-a-long-term-care-facility-in-the-united-kingdom
#17
Hayley J Brodrick, Kathy E Raven, Teemu Kallonen, Dorota Jamrozy, Beth Blane, Nicholas M Brown, Veronique Martin, M Estée Török, Julian Parkhill, Sharon J Peacock
BACKGROUND: Residents of long-term care facilities (LTCF) may have high carriage rates of multidrug-resistant pathogens, but are not currently included in surveillance programmes for antimicrobial resistance or healthcare-associated infections. Here, we describe the value derived from a longitudinal epidemiological and genomic surveillance study of drug-resistant Escherichia coli in a LTCF in the United Kingdom (UK). METHODS: Forty-five of 90 (50%) residents were recruited and followed for six months in 2014...
July 25, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28738217/association-between-an-indel-polymorphism-in-the-3-utr-of-col1a2-and-the-risk-of-sudden-cardiac-death-in-chinese-populations
#18
Zhixia Yin, Yadong Guo, Jianhua Zhang, Qing Zhang, Lijuan Li, Shouyu Wang, Chaoqun Wang, Yan He, Shaohua Zhu, Chengtao Li, Suhua Zhang, Lagabaiyila Zha, Jifeng Cai, Bin Luo, Yuzhen Gao
Sudden cardiac death (SCD) describes the unexpected natural death from a cardiac cause within a short time period. Compelling evidence suggests the involvement of host genetic factors in SCD etiology. Identification of genetic variations predisposed to SCD enables genetic testing that may contribute to SCD diagnosis and risk stratification. Previous studies have suggested that dysregulation of pro-alpha2 chain of type I collagen, encoded by collagen type I alpha 2 chain (COL1A2) gene, was involved in cardiac disorders such as myocardial infarction, hypertrophic cardiomyopathy and atherosclerosis...
July 19, 2017: Legal Medicine
https://www.readbyqxmd.com/read/28738209/psoriasis-a-mixed-autoimmune-and-autoinflammatory-disease
#19
REVIEW
Yun Liang, Mrinal K Sarkar, Lam C Tsoi, Johann E Gudjonsson
In recent years marked progress has been made in our understanding of the critical biologic and immunologic pathways involved in psoriasis. Genetic studies have demonstrated that susceptibility to psoriasis involves components of both the adaptive and innate immune system and not surprisingly activation of both of these arms of the immune system is found in psoriatic skin. While adaptive immune responses predominate in chronic plaque psoriasis, innate and autoinflammatory responses dominate in pustular forms of psoriasis, with other clinical subtypes extending on a spectrum between plaque and pustular psoriasis...
July 21, 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/28737528/genetic-variants-of-increased-waist-circumference-in-psychosis
#20
Dzana S Hukic, Urban Ösby, Eric Olsson, Agneta Hilding, Claes-Göran Östenson, Harvest F Gu, Ewa Ehrenborg, Gunnar Edman, Martin Schalling, Catharina Lavebratt, Louise Frisén
OBJECTIVE: We examined whether established metabolic risk genetic variants in the population confer a risk for increased waist circumference in patients with schizophrenia spectrum disorders and also an association with schizophrenia spectrum disorders irrespective of waist circumference. PATIENTS AND METHODS: We analyzed the association in (i) a case-case model in which patients with schizophrenia spectrum disorder with increased waist circumference (≥80 cm for women and ≥94 cm for men) (n=534) were compared with patients with normal waist circumference (<80 cm for women; <94 cm for men) (n=124), and in (ii) a case-control model in which schizophrenia spectrum disorder patients with increased waist circumference or irrespective of waist circumference were compared with population-derived controls (n=494) adjusted for age, sex, fasting glucose, smoking, and family history of diabetes...
July 21, 2017: Psychiatric Genetics
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