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Single nucleotide polymorphism

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https://www.readbyqxmd.com/read/29779043/glis1-3-transcription-factors-critical-roles-in-the-regulation-of-multiple-physiological-processes-and-diseases
#1
REVIEW
Anton M Jetten
Krüppel-like zinc finger proteins form one of the largest families of transcription factors. They function as key regulators of embryonic development and a wide range of other physiological processes, and are implicated in a variety of pathologies. GLI-similar 1-3 (GLIS1-3) constitute a subfamily of Krüppel-like zinc finger proteins that act either as activators or repressors of gene transcription. GLIS3 plays a critical role in the regulation of multiple biological processes and is a key regulator of pancreatic β cell generation and maturation, insulin gene expression, thyroid hormone biosynthesis, spermatogenesis, and the maintenance of normal kidney functions...
May 19, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29778907/association-of-the-fto-fat-mass-and-obesity-associated-gene-rs9939609-polymorphism-with-rewarding-value-of-food-and-eating-behavior-in-chilean-children
#2
Ana Maria Obregón Rivas, Jose L Santos, Macarena A Valladares, Jameson Cameron, Gary Goldfield
OBJECTIVES: The aim of this study was to assess the association between the single-nucleotide polymorphism rs9939609 in the FTO gene and homeostatic/non-homeostatic eating behavior patterns in Chilean children. METHODS: A cross-sectional study was conducted in 258 children (44% female; 8-14 y of age). Anthropometric measurements (weight, height, Z-score of height, body mass index, and waist circumference) were performed. Eating behavior was assessed using the Eating in Absence of Hunger Questionnaire; the Child Eating Behavior Questionnaire; the Three Factor Eating Questionnaire, and the Food Reinforcement Value Questionnaire...
March 27, 2018: Nutrition
https://www.readbyqxmd.com/read/29778183/high-genetic-diversity-of-extended-spectrum-%C3%AE-lactamases-producing-escherichia-coli-in-feces-of-horses
#3
Syndia Sadikalay, Yann Reynaud, Stéphanie Guyomard-Rabenirina, Mélanie Falord, Célia Ducat, Laetitia Fabre, Simon Le Hello, Antoine Talarmin, Séverine Ferdinand
Extended-spectrum beta-lactamases (ESBLs), especially those of the CTX-M type, represent a major public health problem throughout the world. Although the carriage of ESBL-producing Enterobacteriaceae (EPE) in feces of horses is now well recognized, little is known about the diversity of EPE after treatment of horses with antibiotics. We undertook this study to assess and follow the diversity of EP Escherichia coli isolated from horses after antibiotic treatment for an infection. Fecal samples from two horses treated and two that were untreated were tested for the presence of EPE on different days...
June 2018: Veterinary Microbiology
https://www.readbyqxmd.com/read/29777939/variation-of-genes-encoding-kat1-aadat-and-ido1-as-a-potential-risk-of-depression-development
#4
Paulina Wigner, Piotr Czarny, Ewelina Synowiec, Michał Bijak, Monika Talarowska, Piotr Galecki, Janusz Szemraj, Tomasz Sliwinski
Numerous data suggests that the disorders of tryptophan catabolites (TRYCATs) pathway, including a decreased level of tryptophan or evaluated concentration of harmful TRYCATs -kynurenine, quinolinic acid, 3-hydroxyanthranilic acid, 3-hydroxytryptophan - may cause the occurrence of DD symptoms. In this work, we assessed the relationship between single-nucleotide polymorphisms (SNPs) of KAT1, KAT2 and IDO1 gene encoding, and the risk of depression development. Our study was performed on the DNA isolated from peripheral blood of 281 depressed patients and 236 controls...
May 16, 2018: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29777907/novel-snps-of-wnk1-and-akr1c3-are-associated-with-preeclampsia
#5
Cheng-Juan Sun, Lin Li, Xueyan Li, Wei-Yuan Zhang, Xiao-Wei Liu
Preeclampsia is a hypertensive disorder of pregnancy and is one of the most common causes of poor perinatal outcomes. Preeclampsia increases the risk of hypertension in the future. Variants of WNK1 (lysine deficient protein kinase 1), ADRB2 (β2 adrenergic receptor), NEDD4L (ubiquitin-protein ligase NEDD4-like), KLK1 (kallikrein 1) contribute to hypertension, and AKR1C3 (aldo-keto reductase family1 member C3), is associated with preeclampsia. The association of single nucleotide polymorphisms (SNPs) in these five candidate preeclampsia susceptibility genes and the related traits in Chinese individuals were investigated...
May 16, 2018: Gene
https://www.readbyqxmd.com/read/29777226/genetic-contribution-to-waist-to-hip-ratio-in-mexican-children-and-adolescents-based-on-12-loci-validated-in-european-adults
#6
Michelle Turcotte, Arkan Abadi, Jesus Peralta-Romero, Fernando Suarez, Hudson Reddon, Jaime Gomez-Zamudio, Ana I Burguete-Garcia, Miguel Cruz, David Meyre
BACKGROUND/OBJECTIVES: The prevalence of abdominal obesity in Mexican children has risen dramatically in the past decade. Genome-wide association studies (GWAS) for waist-to-hip ratio (WHR) performed predominantly in European descent adult  populations have identified multiple single-nucleotide polymorphisms (SNPs) with larger effects in women. The contribution of these SNPs to WHR in non-European children is unknown. SUBJECTS/METHODS: Mexican children and adolescents (N = 1421, 5-17 years) were recruited in Mexico City...
March 13, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29777223/card9-s12n-facilitates-the-production-of-il-5-by-alveolar-macrophages-for-the-induction-of-type-2-immune-responses
#7
Xia Xu, Jin-Fu Xu, Guoxing Zheng, Hai-Wen Lu, Jie-Lin Duan, Wei Rui, Jian-Hong Guan, Li-Qing Cheng, Dan-Dan Yang, Ming-Chao Wang, Quan-Zhen Lv, Jian-Xiong Li, Xueqiang Zhao, Chun-Xia Chen, Peng Shi, Xin-Ming Jia, Xin Lin
The adaptor CARD9 functions downstream of C-type lectin receptors (CLRs) for the sensing of microbial infection, which leads to responses by the TH 1 and TH 17 subsets of helper T cells. The single-nucleotide polymorphism rs4077515 at CARD9 in the human genome, which results in the substitution S12N (CARD9S12N ), is associated with several autoimmune diseases. However, the function of CARD9S12N has remained unknown. Here we generated CARD9S12N knock-in mice and found that CARD9S12N facilitated the induction of type 2 immune responses after engagement of CLRs...
May 18, 2018: Nature Immunology
https://www.readbyqxmd.com/read/29777116/genetic-risk-score-of-common-genetic-variants-for-impaired-fasting-glucose-and-newly-diagnosed-type-2-diabetes-influences-oxidative-stress
#8
Minjoo Kim, Minkyung Kim, Limin Huang, Sun Ha Jee, Jong Ho Lee
We tested the hypothesis that the cumulative effects of common genetic variants related to elevated fasting glucose are collectively associated with oxidative stress. Using 25 single nucleotide polymorphisms (SNPs), a weighted genetic risk score (wGRS) was constructed by summing nine risk alleles based on nominal significance and a consistent effect direction in 1,395 controls and 718 patients with impaired fasting glucose (IFG) or newly diagnosed type 2 diabetes. All the participants were divided into the following three groups: low-wGRS, middle-wGRS, and high-wGRS groups...
May 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29776682/the-impact-of-apolipoprotein-e-alleles-on-cognitive-performance-in-patients-with-parkinson-s-disease
#9
Anna Pierzchlińska, Monika Białecka, Mateusz Kurzawski, Jarosław Sławek
Apolipoprotein E (ApoE) is a vital component of several lipoproteins and plays a major role in lipid metabolism. APOE gene comprises of three alleles determined by two single nucleotide polymorphisms (rs429358 and rs7412) resulting in the protein isoforms, among which ApoE4 is a confirmed risk factor for Alzheimer's Disease. However, the impact of APOE genotypes on Parkinson's Disease Dementia (PDD) is still inconclusive. The PDD diagnostic criteria are very inconsistent, and could be complemented with genetic factors...
May 5, 2018: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29776379/development-of-a-rapid-field-applicable-molecular-diagnostic-for-knockdown-resistance-kdr-markers-in-an-gambiae
#10
Vera T Unwin, Shaun Ainsworth, Emily J Rippon, El Hadji Amadou Niang, Mark J I Paine, David Weetman, Emily R Adams
BACKGROUND: The spread of insecticide resistance (IR) is a major threat to vector control programmes for mosquito-borne diseases. Early detection of IR using diagnostic markers could help inform these programmes, especially in remote locations where gathering reliable bioassay data is challenging. Most current molecular tests for genetic IR markers are only suitable for use in well-equipped laboratory settings. There is an unmet need for field-applicable diagnostics. METHODS: A single-cartridge test was designed to detect key IR mutations in the major African vector of malaria, Anopheles gambiae...
May 18, 2018: Parasites & Vectors
https://www.readbyqxmd.com/read/29776335/using-genomic-relationship-likelihood-for-parentage-assignment
#11
Kim E Grashei, Jørgen Ødegård, Theo H E Meuwissen
BACKGROUND: Parentage assignment is usually based on a limited number of unlinked, independent genomic markers (microsatellites, low-density single nucleotide polymorphisms (SNPs), etc.). Classical methods for parentage assignment are exclusion-based (i.e. based on loci that violate Mendelian inheritance) or likelihood-based, assuming independent inheritance of loci. For true parent-offspring relations, genotyping errors cause apparent violations of Mendelian inheritance. Thus, the maximum proportion of such violations must be determined, which is complicated by variable call- and genotype error rates among loci and individuals...
May 18, 2018: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/29776329/convaq-a-web-tool-for-copy-number-variation-based-association-studies
#12
Simon Jonas Larsen, Luisa Matos do Canto, Silvia Regina Rogatto, Jan Baumbach
BACKGROUND: Copy number variations (CNVs) are large segments of the genome that are duplicated or deleted. Structural variations in the genome have been linked to many complex diseases. Similar to how genome-wide association studies (GWAS) have helped discover single-nucleotide polymorphisms linked to disease phenotypes, the extension of GWAS to CNVs has aided the discovery of structural variants associated with human traits and diseases. RESULTS: We present CoNVaQ, an easy-to-use web-based tool for CNV-based association studies...
May 18, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29776318/ppard-rs7770619-polymorphism-in-a-korean-population-association-with-plasma-malondialdehyde-and-impaired-fasting-glucose-or-newly-diagnosed-type-2-diabetes
#13
Minjoo Kim, Minkyung Kim, Hye Jin Yoo, Yao Sun, Sang-Hyun Lee, Jong Ho Lee
Both the peroxisome proliferator-activated receptor delta gene ( PPARD) and malondialdehyde plasma concentrations may play a role in impaired glucose metabolism. The aim of this work was to determine whether PPARD is a candidate gene for impaired fasting glucose or type 2 diabetes and whether a particular genetic variant shows association with plasma malondialdehyde levels. Among the 10 single-nucleotide polymorphisms that were most strongly associated with malondialdehyde, the rs7770619 polymorphism in PPARD was analysed in 1798 subjects with normal fasting glucose, impaired fasting glucose and newly diagnosed type 2 diabetes...
May 1, 2018: Diabetes & Vascular Disease Research
https://www.readbyqxmd.com/read/29775784/genome-wide-association-mapping-of-virulence-gene-in-rice-blast-fungus-magnaporthe-oryzae-using-a-genotyping-by-sequencing-approach
#14
Siripar Korinsak, Sithichoke Tangphatsornruang, Wirulda Pootakham, Samart Wanchana, Anucha Plabpla, Chatchawan Jantasuriyarat, Sujin Patarapuwadol, Apichart Vanavichit, Theerayut Toojinda
Magnaporthe oryzae is a fungal pathogen causing blast disease in many plant species. In this study, Seventy three isolates of M. oryzae collected from rice (Oryza sativa) in 1996-2014 were genotyped using a genotyping-by-sequencing approach to detect genetic variation. Association study was performed to identify single nucleotide polymorphism (SNP) associated with virulence genes using 831 selected SNP and infection phenotypes on local and improved rice varieties. Population structure analysis revealed eight subpopulations...
May 15, 2018: Genomics
https://www.readbyqxmd.com/read/29775696/tph2-polymorphisms-across-the-spectrum-of-psychiatric-morbidity-a-systematic-review-and-meta-analysis
#15
REVIEW
Koen Willem Ottenhof, Mari Sild, Mélissa Luce Lévesque, Henricus Gerardus Ruhé, Linda Booij
Tryptophan hydroxylase 2 (TPH2) is the rate-limiting enzyme in brain serotonin synthesis. The TPH2 gene has frequently been investigated in relation to psychiatric morbidity. The aim of the present review is to integrate results from association studies between TPH2 single nucleotide polymorphisms (SNPs) and various psychiatric disorders, which we furthermore quantified with meta-analysis. We reviewed 166 studies investigating 69 TPH2 SNPs in a broad range of psychiatric disorders, including over 30,000 patients...
May 15, 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29775600/variation-in-interleukin-6-receptor-gene-associates-with-risk-of-crohn-s-disease-and-ulcerative-colitis
#16
C A Parisinos, S Serghiou, M Katsoulis, M J George, R S Patel, H Hemingway, A D Hingorani
Interleukin 6 (IL6) is an inflammatory cytokine; signaling via its receptor (IL6R) is believed to contribute to development of inflammatory bowel diseases (IBD). The single nucleotide polymorphism rs2228145 in IL6R associates with increased levels of soluble IL6R (s-IL6R), as well as reduced IL6R signaling and risk of inflammatory disorders; its effects are similar to those of a therapeutic monoclonal antibody that blocks IL6R signaling. We used the effect of rs2228145 on s-IL6R level as an indirect marker to investigate whether reduced IL6R signaling associates with risk of ulcerative colitis (UC) or Crohn's disease (CD)...
May 15, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29774847/genomic-sequencing-of-bordetella-pertussis-for-epidemiology-and-global-surveillance-of-whooping-cough
#17
Valérie Bouchez, Julien Guglielmini, Mélody Dazas, Annie Landier, Julie Toubiana, Sophie Guillot, Alexis Criscuolo, Sylvain Brisse
Bordetella pertussis causes whooping cough, a highly contagious respiratory disease that is reemerging in many world regions. The spread of antigen-deficient strains may threaten acellular vaccine efficacy. Dynamics of strain transmission are poorly defined because of shortcomings in current strain genotyping methods. Our objective was to develop a whole-genome genotyping strategy with sufficient resolution for local epidemiologic questions and sufficient reproducibility to enable international comparisons of clinical isolates...
June 2018: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29774574/nonsynonymous-single-nucleotide-polymorphisms-in-candidate-genes-p2ry1-p2ry12-and-cyp2c19-for-clopidogrel-efficacy-in-cats
#18
Yu Ueda, Ronald Hak Long Li, Fern Tablin, Eric S Ontiveros, Joshua A Stern
No abstract text is available yet for this article.
May 18, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29774543/human-monocyte-transciptional-profiling-identifies-interleukin-18-receptor-accessory-protein-and-lactoferrin-as-novel-immune-targets-in-hypertension
#19
Matthew R Alexander, Allison E Norlander, Fernando Elijovich, Ravi V Atreya, Amadou Gaye, Juan S Gnecco, Cheryl L Laffer, Cristi L Galindo, Meena S Madhur
BACKGROUND AND PURPOSE: Monocytes play a critical role in hypertension. The purpose of our study was to use an unbiased approach to determine whether hypertensive individuals on conventional therapy exhibit an altered monocyte gene expression profile and to perform validation studies of select genes to identify novel therapeutic targets for hypertension. EXPERIMENTAL APPROACH: Next-generation RNA sequencing identified differentially expressed genes in a small discovery cohort of normotensive and hypertensive individuals...
May 18, 2018: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29774533/analysis-of-type-2-diabetes-and-obesity-genetic-variants-in-mexican-pima-indians-marked-allelic-differentiation-among-amerindians-at-hla
#20
Wen-Chi Hsueh, Peter H Bennett, Julian Esparza-Romero, Rene Urquidez-Romero, Mauro E Valencia, Eric Ravussin, Robert C Williams, William C Knowler, Leslie J Baier, Leslie O Schulz, Robert L Hanson
Prevalence of diabetes and obesity in Mexican Pima Indians is low, while prevalence in US Pima Indians is high. Although lifestyle likely accounts for much of the difference, the role of genetic factors is not well explored. To examine this, we genotyped 359 single nucleotide polymorphisms, including established type 2 diabetes and obesity variants from genome-wide association studies (GWAS) and 96 random markers, in 342 Mexican Pimas. A multimarker risk score of obesity variants was associated with body mass index (BMI; β = 0...
May 17, 2018: Annals of Human Genetics
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