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https://www.readbyqxmd.com/read/29149777/investigating-the-association-of-adam33-single-nucleotide-polymorphisms-snps-with-susceptibility-to-allergic-asthma-in-azerbaijan-population-of-iran-a-case-control-study
#1
Ilghar Zeinaly, Mahnaz Sadeghi-Shabestrai, Zohreh Babaloo, Alireza Razavi, Mohammad Sajay-Asbaghi, Saeed Sadigh-Eteghad, Tohid Kazemi
Asthma, affecting a growing number of populations, is a clinical condition with complex cellular and genetic factors. Single nucleotide polymorphisms (SNPs) in gene coding for molecules, which play major roles in the immunopathogenesis of asthma have been considered recently as genetic predisposing factors this disease. Possible association between two SNPs in a disintegrin and metalloprotease 33 (ADAM33), which participates in airway remodeling, and susceptibility to asthma was studied in this study. 190 patients with asthma and 180 healthy controls were enrolled in this case-control study...
October 2017: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/29149619/association-of-snps-in-genes-encoding-zinc-transporters-on-blood-zinc-levels-in-humans
#2
Junko Fujihara, Toshihiro Yasuda, Kaori Kimura-Kataoka, Yoshikazu Takinami, Masataka Nagao, Haruo Takeshita
Zinc homeostasis in cells depends on zinc transporters, which are divided into 2 families: ZnT (SLC30A) and ZIP (SLC39A). In this study, we examined the effect of 20 single nucleotide polymorphisms (SNPs) in 10 genes encoding zinc transporters on blood zinc concentration in Japanese subjects (n = 102). Blood zinc levels were determined by microwave plasma-atomic emission spectrometry, and SNPs were analyzed by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Among the 20 SNPs examined, 3 SNPs (SLC30A3 rs11126936, SLC39A8 rs233804, and SLC39A14 rs4872479) were significantly associated with blood zinc concentration...
November 9, 2017: Legal Medicine
https://www.readbyqxmd.com/read/29149254/invited-commentary-gestational-hypertension-and-diabetes-a-major-public-health-concern
#3
Lewis H Kuller, Janet Catov
The obesity epidemic in the United States and other countries has contributed to an increase in the rates of gestational diabetes and hypertension. In the past, it was thought that most cases of gestational diabetes and hypertension would resolve after completion of pregnancy. In this issue of the Journal, Pace et al. (Am J Epidemiol. 2017;186(10):1115-1124) clearly documented that both gestational diabetes and hypertension lead to diabetes and hypertension and that the combination of both during pregnancy leads to very high rates of subsequent diabetes and hypertension...
November 15, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29149188/orienting-the-causal-relationship-between-imprecisely-measured-traits-using-gwas-summary-data
#4
Gibran Hemani, Kate Tilling, George Davey Smith
Inference about the causal structure that induces correlations between two traits can be achieved by combining genetic associations with a mediation-based approach, as is done in the causal inference test (CIT). However, we show that measurement error in the phenotypes can lead to the CIT inferring the wrong causal direction, and that increasing sample sizes has the adverse effect of increasing confidence in the wrong answer. This problem is likely to be general to other mediation-based approaches. Here we introduce an extension to Mendelian randomisation, a method that uses genetic associations in an instrumentation framework, that enables inference of the causal direction between traits, with some advantages...
November 17, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29149023/antibiotic-susceptibility-genetic-diversity-and-the-presence-of-toxin-producing-genes-in-campylobacter-isolates-from-poultry
#5
Jeeyeon Lee, Jiyeon Jeong, Heeyoung Lee, Jimyeong Ha, Sejeong Kim, Yukyung Choi, Hyemin Oh, Kunho Seo, Yohan Yoon, Soomin Lee
This study examined antibiotic susceptibility, genetic diversity, and characteristics of virulence genes in Campylobacter isolates from poultry. Chicken (n = 152) and duck (n = 154) samples were collected from 18 wet markets in Korea. Campylobacter spp. isolated from the carcasses were identified by PCR. The isolated colonies were analyzed for antibiotic susceptibility to chloramphenicol, amikacin, erythromycin, tetracycline, ciprofloxacin, nalidixic acid, and enrofloxacin. The isolates were also used to analyze genetic diversity using the DiversiLab(TM) system and were tested for the presence of cytolethal distending toxin (cdt) genes...
November 17, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29148915/the-frequency-of-mutations-in-quinolone-resistance-determining-regions-and-plasmid-mediated-quinolone-resistance-in-shigella-isolates-recovered-from-pediatric-patients-in-tehran-iran-an-overlooked-problem
#6
Sajad Yaghoubi, Reza Ranjbar, Mohammad Mehdi Soltan Dallal, Mohammad Hasan Shirazi, Mohammad Kazem Sharifi-Yazdi
Fluoroquinolone (FQ) resistance in clinical isolates of Shigella species has been increasing reported in recent years. This study was carried out to find the mutations within the quinolone resistance-determining regions (QRDRs) and the prevalence of plasmid-mediated quinolone resistance (PMQR) determinants among the clinical isolates of Shigella sp. in Tehran, Iran. A total of 50 Shigella isolates were collected from five teaching therapeutic centers in Tehran, Iran and analyzed for antibiotic susceptibility over a period of 20 months from July 2015 to January 2017...
November 17, 2017: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
https://www.readbyqxmd.com/read/29148887/wild-birds-as-a-potential-source-of-known-and-novel-multilocus-sequence-types-of-antibiotic-resistant-enterococcus-faecalis
#7
Dagmara Stępień-Pyśniak, Tomasz Hauschild, Anna Nowaczek, Agnieszka Marek, Marta Dec
We assessed the antibiotic resistance and genetic diversity of 27 Enterococcus faecalis isolates from 25 wild bird species in Poland. Resistance to lincomycin (100%) was most common followed by tetracycline (48%), erythromycin (44%), and ciprofloxacin (22%). High-level resistance to streptomycin and kanamycin was observed in 19 and 15% of isolates, respectively. One isolate (4%) exhibited low-level resistance to penicillin and vancomycin, and all isolates were susceptible to gentamicin and chloramphenicol. Antibiotic resistance was linked to the tet(M), tet(L), erm(A), erm(B), msr(A/B), ant(6)-Ia, and aph(3')-IIIa genes...
November 17, 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/29148569/exome-sequence-analysis-and-follow-up-genotyping-implicates-rare-ulk1-variants-to-be-involved-in-susceptibility-to-schizophrenia
#8
Mariam M Al Eissa, Alessia Fiorentino, Sally I Sharp, Niamh L O'Brien, Kate Wolfe, Giovanni Giaroli, David Curtis, Nicholas J Bass, Andrew McQuillin
Schizophrenia (SCZ) is a severe, highly heritable psychiatric disorder. Elucidation of the genetic architecture of the disorder will facilitate greater understanding of the altered underlying neurobiological mechanisms. The aim of this study was to identify likely aetiological variants in subjects affected with SCZ. Exome sequence data from a SCZ cas-control sample from Sweden was analysed for likely aetiological variants using a weighted burden test. Suggestive evidence implicated the UNC-51-like kinase (ULK1) gene, and it was observed that four rare variants that were more common in the Swedish SCZ cases were also more common in UK10K SCZ cases, as compared to obesity cases...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29147678/a-haplotype-associated-with-enhanced-mineralocorticoid-receptor-expression-facilitates-the-stress-induced-shift-from-cognitive-to-habit-learning
#9
Lisa Wirz, Martin Reuter, Jan Wacker, Andrea Felten, Lars Schwabe
Stress induces a shift from hippocampus-dependent "cognitive" toward dorsal striatum-dependent "habit" memory. However, not all individuals are susceptible to this shift under stress. Based on pharmacological studies indicating a critical role of the mineralocorticoid receptor (MR) in the stress-induced bias toward dorsal striatal learning, we hypothesized that MR gene variants contribute to these individual differences. In two experiments, healthy participants were genotyped, exposed to a stressor or control manipulation and performed a learning task that can be solved using hippocampal or dorsal striatal systems, while electroencephalography (EEG; Experiment I) or functional magnetic resonance imaging (fMRI; Experiment II) measurements were taken...
November 2017: ENeuro
https://www.readbyqxmd.com/read/29147453/ctla-4-genetic-variants-rs11571317-and-rs3087243-role-in-susceptibility-and-progression-of-breast-cancer
#10
Maruthi Goske, V R Vinish Ramachander, Prasanna Latha Komaravalli, P Fazul Rahman, Chandrasekhar Rao, Parveen Jahan
Background: Dysfunctional regulation at immune checkpoints may lead to escape of the tumor cells and gives a scope to set in the unresolved Breast cancer (BC). The major anti-tumor retort is cell-mediated response which involves T lymphocytes. CTLA-4 (Cytotoxic T lymphocyte associated protein-4) with immune suppressive function and tolerance is associated with various autoimmune diseases and cancers including BC. The present study deals with CTLA-4 gene selected polymorphisms (rs11571317 C/T and rs3087243G/A) to explore their relation with breast cancer susceptibility and progression in BC patients...
October 2017: World Journal of Oncology
https://www.readbyqxmd.com/read/29146897/gwas-for-male-pattern-baldness-identifies-71-susceptibility-loci-explaining-38-of-the-risk
#11
Nicola Pirastu, Peter K Joshi, Paul S de Vries, Marilyn C Cornelis, Paul M McKeigue, NaNa Keum, Nora Franceschini, Marco Colombo, Edward L Giovannucci, Athina Spiliopoulou, Lude Franke, Kari E North, Peter Kraft, Alanna C Morrison, Tõnu Esko, James F Wilson
Male pattern baldness (MPB) or androgenetic alopecia is one of the most common conditions affecting men, reaching a prevalence of ~50% by the age of 50; however, the known genes explain little of the heritability. Here, we present the results of a genome-wide association study including more than 70,000 men, identifying 71 independently replicated loci, of which 30 are novel. These loci explain 38% of the risk, suggesting that MPB is less genetically complex than other complex traits. We show that many of these loci contain genes that are relevant to the pathology and highlight pathways and functions underlying baldness...
November 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/29146444/snps-in-the-toll1-receptor-of-litopenaeus-vannamei-are-associated-with-immune-response
#12
Defu Yao, Huimin Su, Jinghua Zhu, Xianliang Zhao, Jude Juventus Aweya, Fan Wang, Mingqi Zhong, Yueling Zhang
Tolls and Toll-like receptors (TLRs) are important regulators in the innate immune system and their genetic variations usually affect the host's susceptibility/resistance to pathogen infections. In this study, we report on the single nucleotide polymorphisms (SNPs) of Toll1 in Litopenaeus vannamei (LvToll1) and how this is associated with immune response. PCR-DGGE analysis revealed genetic polymorphisms in LvToll1 at both the genomic DNA (gDNA) and cDNA levels. Using high-throughput sequencing, 223 SNPs were identified at the gDNA level, of which 145 were non-synonymous SNP (nsSNP), with 3 nsSNPs having frequency over 1%...
November 13, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29146387/dilemmas-in-genetic-counseling-for-low-penetrance-neuro-susceptibility-loci-detected-on-prenatal-chromosomal-microarray-analysis
#13
Dana Brabbing-Goldstein, Adi Reches, Ran Svirsky, Anat Bar-Shira, Yuval Yaron
BACKGROUND: Chromosomal microarray analysis is standard of care in fetuses with malformations, detecting clinically significant copy number variants in 5-7% of cases over conventional karyotyping. However, it also detects variants of uncertain significance in 1.6% - 4.2% of the cases, some of which are low-penetrance neuro-susceptibility loci. The interpretation of these variants in pregnancy is particularly challenging, because the significance is often unclear and the clinical implications may be difficult to predict...
November 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29146225/response-comparison-of-multiple-myeloma-and-monoclonal-gammopathy-of-undetermined-significance-to-the-same-anti-myeloma-therapy-a-retrospective-cohort-study
#14
John P Campbell, Jennifer L J Heaney, Sankalp Pandya, Zaheer Afzal, Martin Kaiser, Roger Owen, J Anthony Child, David A Cairns, Walter Gregory, Gareth J Morgan, Graham H Jackson, Chris M Bunce, Mark T Drayson
BACKGROUND: Multiple myeloma is consistently preceded by monoclonal gammopathy of undetermined significance (MGUS), which is usually only treated by a form of anti-multiple myeloma therapy if it is causing substantial disease through deposition of secreted M proteins. However, studies comparing how MGUS and multiple myeloma plasma cell clones respond to these therapies are scarce. Biclonal gammopathy multiple myeloma is characterised by the coexistence of an active multiple myeloma clone and a benign MGUS clone, and thus provides a unique model to assess the responses of separate clones to the same anti-multiple myeloma therapy, in the same patient, at the same time...
November 13, 2017: Lancet Haematology
https://www.readbyqxmd.com/read/29146194/association-analyses-of-genetic-variants-in-long-non-coding-rna-malat1-with-breast-cancer-susceptibility-and-mrna-expression-of-malat1-in-chinese-han-population
#15
Rui Peng, Chenglin Luo, Qiaoyun Guo, Jingjing Cao, Qian Yang, Kaiyan Dong, Shuaibing Wang, Kaijuan Wang, Chunhua Song
The long non-coding RNA (lncRNA) Metastasis-associated lung adenocarcinoma transcript 1(MALAT1) has been implicated in breast cancer (BC). Polymorphisms in MALAT1 may play a vital role in the progress of breast cancer by its regulation function. However, potential genetic variants in MALAT1 affecting the development of BC is rarely explored. In our current molecular epidemiology study, all three tagging SNPs (rs3200401, rs619586 and rs7927113) in lncRNA MALAT1 were selected for genotyping in 487BCE patients and 489 cancer-free controls in Chinese Han population, and futher experiment of quantitative real-time (qRT) PCR was conducted to examine the relative expression of MALAT1...
November 13, 2017: Gene
https://www.readbyqxmd.com/read/29145455/association-of-polymorphisms-in-heat-shock-protein-70-genes-with-the-susceptibility-to-noise-induced-hearing-loss-a-meta-analysis
#16
Shimin Zong, Xue Zeng, Tianyi Liu, Fangmin Wan, Pan Luo, Hongjun Xiao
BACKGROUND: Several case-control studies reported the relationship between single nucleotide polymorphisms (SNPs) in HSP70 genes and noise-induced hearing loss (NIHL). However, their conclusions are conflicting. This meta-analysis aims to identify the association of HSP70 variants and NIHL susceptibility. METHOD: A systematical literature search was performed in PubMed, Web of Science, EMBASE, and Wanfang Chinese database. The pooled odds radio (OR), 95% confidence interval (CI) and p value were calculated in fixed- or random-effects model according to the I2 value in the heterogeneity test...
2017: PloS One
https://www.readbyqxmd.com/read/29144157/the-influence-of-sunlight-exposure-on-hospitalization-in-emergency-psychiatry
#17
Andrea Aguglia, Antonio Borsotti, Francesco Cuniberti, Gianluca Serafini, Mario Amore, Giuseppe Maina
OBJECTIVE: Environmental conditions during early life may affect individual vulnerability to both physiological changes as well as psychiatric conditions, especially in those with a genetic susceptibility. Among all factors, sunlight exposure intensity has a crucial effect on affecting circadian functions high-risk individuals. A potential explanation of this relation is that excessive sunlight exposure is able to impair biological mechanisms, possibly through the dysregulation of serotonin and/or melatonin production/metabolism...
November 16, 2017: Chronobiology International
https://www.readbyqxmd.com/read/29143895/genetic-approaches-to-the-study-of-gene-variants-and-their-impact-on-the-pathophysiology-of-type-2-diabetes
#18
REVIEW
Monica Szabo, Beáta Máté, Katalin Csép, Theodora Benedek
Diabetes mellitus is an incurable progressive disease, characterized by elevated blood glucose levels, which lead to the development of micro- and macrovascular complications. Although the etiopathology of the disease remains unclear, it seems to be multifactorial, with an important interaction between genetics and environmental causes. Currently, the genetics of type 2 diabetes (T2D) is poorly understood. The recent advance of the genetic technologies and with a better understanding of genetics, more than 120 distinct genetic loci, with more than 150 variants, have been identified that may be involved in the pathogenesis of T2D...
November 16, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/29143663/dirofilaria-immitis-jyd-34-isolate-whole-genome-analysis
#19
Catherine Bourguinat, Francois Lefebvre, Johanna Sandoval, Brenda Bondesen, Yovany Moreno, Roger K Prichard
BACKGROUND: Macrocyclic lactone (ML) anthelmintics are used for chemoprophylaxis for heartworm infection in dogs and cats. Cases of dogs becoming infected with heartworms, despite apparent compliance to recommended chemoprophylaxis with approved preventives, has led to such cases being considered as suspected lack of efficacy (LOE). Recently, microfilariae collected from a small number of LOE isolates were used as a source of infection of new host dogs and confirmed to have reduced susceptibility to ML in controlled efficacy studies using L3 challenge in dogs...
November 9, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/29143652/genetic-profiles-of-ten-dirofilaria-immitis-isolates-susceptible-or-resistant-to-macrocyclic-lactone-heartworm-preventives
#20
Catherine Bourguinat, Kathy Keller, Jianguo Xia, Pierre Lepage, Tom L McTier, Debra J Woods, Roger K Prichard
BACKGROUND: For dogs and cats, chemoprophylaxis with macrocyclic lactone (ML) preventives for heartworm disease is widely used in the United States and other countries. Since 2005, cases of loss of efficacy (LOE) of heartworm preventives have been reported in the U.S. More recently, ML-resistant D. immitis isolates were confirmed. Previous work identified 42 genetic markers that could predict ML response in individual samples. For field surveillance, it would be more appropriate to work on microfilarial pools from individual dogs with a smaller subset of genetic markers...
November 9, 2017: Parasites & Vectors
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