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https://www.readbyqxmd.com/read/29334679/the-il20-genetic-polymorphism-is-associated-with-altered-clinical-outcome-in-septic-shock
#1
Taka-Aki Nakada, Petch Wacharasint, James A Russell, John H Boyd, Emiri Nakada, Simone A Thair, Tadanaga Shimada, Keith R Walley
BACKGROUND: The IL10 family of genes includes crucial immune regulators. We tested the hypothesis that single nucleotide polymorphisms (SNPs) in IL10, IL19, IL20, and IL24 of the IL10 family gene cluster alter the clinical outcome of septic shock. METHODS: Patients with septic shock (n = 1,193) were genotyped for 13 tag SNPs of IL10, IL19, IL20, and IL24. IL20 gene expression was measured in genotyped lymphoblastoid cells in vitro. Cardiac surgical ICU patients (n = 981) were genotyped for IL20 rs2981573 A/G...
January 16, 2018: Journal of Innate Immunity
https://www.readbyqxmd.com/read/29333125/association-between-slc19a1-gene-polymorphism-and-high-dose-methotrexate-toxicity-in-childhood-acute-lymphoblastic-leukaemia-and-non-hodgkin-malignant-lymphoma-introducing-a-haplotype-based-approach
#2
Barbara Faganel Kotnik, Janez Jazbec, Petra Bohanec Grabar, Cristina Rodriguez-Antona, Vita Dolzan
Background: We investigated the clinical relevance of SLC 19A1 genetic variability for high dose methotrexate (HD-MTX) related toxicities in children and adolescents with acute lymphoblastic leukaemia (ALL) and non Hodgkin malignant lymphoma (NHML). Patients and methods: Eighty-eight children and adolescents with ALL/NHML were investigated for the influence of SLC 19A1 single nucleotide polymorphisms (SNPs) and haplotypes on HD-MTX induced toxicities. Results: Patients with rs2838958 TT genotype had higher probability for mucositis development as compared to carriers of at least one rs2838958 C allele (OR 0...
December 2017: Radiology and Oncology
https://www.readbyqxmd.com/read/29331705/catechol-o-methyltransferase-comt-functional-haplotype-is-associated-with-recurrence-of-affective-symptoms-a-prospective-birth-cohort-study
#3
Shinsuke Koike, Darya Gaysina, Peter B Jones, Andrew Wong, Marcus Richards
BACKGROUND: Catechol-O-methyltransferase (COMT) polymorphisms play an essential role in dopamine availability in the brain. However, there has been no study investigating whether a functional four-SNP (rs6269-rs4633-rs4818-rs4680) haplotype is associated with affective symptoms over the life course. METHODS: We tested this using 2093 members of the Medical Research Council National Survey of Health and Development (MRC NSHD), who had been followed up since birth in 1946, and had data for COMT genotypes, adolescent emotional problems (age 13-15) and at least one measure of adult affective symptoms at ages 36, 43, 53, or 60-64 years...
January 6, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29331597/variation-of-genes-involved-in-oxidative-and-nitrosative-stresses-in-depression
#4
Paulina Wigner, Piotr Czarny, Ewelina Synowiec, Michał Bijak, Katarzyna Białek, Monika Talarowska, Piotr Galecki, Janusz Szemraj, Tomasz Sliwinski
The dominating hypothesis among numerous hypotheses explaining the pathogenesis of depressive disorders (DD) is the one involving oxidative and nitrosative stress. In this study, we examined the association between single-nucleotide polymorphisms of the genes encoding SOD2 (superoxide dismutase 2), CAT (catalase), GPx4 (glutathione peroxidase 4), NOS1 (nitric oxide synthase 1), NOS2 (nitric oxide synthase 2), and the development of depressive disorders. Our study was carried out on the DNA isolated from peripheral blood collected from 281 depressed patients and 229 controls...
December 9, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29330410/the-impact-of-comt-and-childhood-maltreatment-on-suicidal-behaviour-in-affective-disorders
#5
Alexandra Bernegger, Klemens Kienesberger, Laura Carlberg, Patrick Swoboda, Birgit Ludwig, Romina Koller, Michelle Inaner, Melanie Zotter, Nestor Kapusta, Martin Aigner, Helmuth Haslacher, Siegfried Kasper, Alexandra Schosser
The inconsistent findings on the association between COMT (catecholamine-O-methyl-transferase) and suicidal behaviour gave reason to choose a clear phenotype description of suicidal behaviour and take childhood maltreatment as environmental factor into account. The aim of this candidate-gene-association study was to eliminate heterogeneity within the sample by only recruiting affective disorder patients and find associations between COMT polymorphisms and defined suicidal phenotypes. In a sample of 258 affective disorder patients a detailed clinical assessment (e...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29326435/a-combined-analysis-of-genetically-correlated-traits-identifies-187-loci-and-a-role-for-neurogenesis-and-myelination-in-intelligence
#6
W D Hill, R E Marioni, O Maghzian, S J Ritchie, S P Hagenaars, A M McIntosh, C R Gale, G Davies, I J Deary
Intelligence, or general cognitive function, is phenotypically and genetically correlated with many traits, including a wide range of physical, and mental health variables. Education is strongly genetically correlated with intelligence (r g  = 0.70). We used these findings as foundations for our use of a novel approach-multi-trait analysis of genome-wide association studies (MTAG; Turley et al. 2017)-to combine two large genome-wide association studies (GWASs) of education and intelligence, increasing statistical power and resulting in the largest GWAS of intelligence yet reported...
January 11, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29325759/snps-in-the-vicinity-of-p2x7r-rank-rankl-opg-and-wnt-signalling-pathways-and-their-association-with-bone-phenotypes-in-academy-footballers
#7
Ian Varley, David C Hughes, Julie P Greeves, William D Fraser, Craig Sale
CONTEXT: Genotype plays an important role in influencing bone phenotypes, such as bone mineral density, but the role of genotype in determining responses of bone to exercise has yet to be elucidated. OBJECTIVE: To determine whether 10 SNPs associated with genes in the vicinity of P2X7R, RANK/RANKL/OPG and Wnt Signalling Pathways are associated with bone phenotypes in elite academy footballers (Soccer players) and to determine whether these genotypes are associated with training induced changes in bone...
January 8, 2018: Bone
https://www.readbyqxmd.com/read/29325309/-association-of-crohn-s-disease-with-aryl-hydrocarbon-receptor-gene-polymorphisms-and-haplotypes
#8
C Q Wu, S G Cao, X P Xia, C L Xu, S L Xia, X Q Lin, J Jin, R Ding, Y Jiang
Objective: To explore the relationship of Crohn's disease (CD) susceptibility to aryl hydrocarbon receptor (AhR) polymorphisms and haplotypes in Han population in Wenzhou city, China. Methods: A total of 310 CD patients and 573 age- and sex-matched healthy controls were enrolled in our study. Three single nucleotide polymorphisms (SNPs) of AhR(rs10249788,rs2158041,rs2066853) were determined by the improved multiple ligase detection reaction technique. Unconditional logistic regression analyses was applied to analyze the allelic and genotypic differences of each SNP between CD patients and controls, as well as their influence on the clinicopathologic characteristics in CD patients...
January 1, 2018: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29325163/trans-ethnic-evaluation-identifies-novel-low-frequency-loci-associated-with-25-hydroxyvitamin-d-concentrations
#9
Jaeyoung Hong, Kathryn E Hatchell, Jonathan P Bradfield, Bjonnes Andrew, Chesi Alessandra, Lai Chao-Qiang, Carl D Langefeld, Lingyi Lu, Yingchang Lu, Pamela L Lutsey, Solomon K Musani, Mike A Nalls, Cassianne Robinson-Cohen, Jeffery D Roizen, Richa Saxena, Katherine L Tucker, Julie T Ziegler, Dan E Arking, Joshua C Bis, Eric Boerwinkle, Erwin P Bottinger, Donald W Bowden, Vincente Gilsanz, Denise K Houston, Heidi J Kalkwarf, Andrea Kelly, Joan M Lappe, Yongmei Liu, Erin D Michos, Sharon E Oberfield, Nicholette D Palmer, Jerome I Rotter, Bishwa Sapkota, John A Shepherd, James G Wilson, Saonli Basu, Ian H de Boer, Jasmin Divers, Barry I Freedman, Struan F A Grant, Hakon Hakanarson, Tamara B Harris, Bryan R Kestenbaum, Stephen B Kritchevsky, Ruth J F Loos, Jill M Norris, Arnita F Norwood, Jose M Ordovas, James S Pankow, Bruce M Psaty, Dharambir K Sanhgera, Lynne E Wagenknecht, Babette S Zemel, James Meigs, Josée Dupuis, Jose C Florez, Thomas Wang, Ching-Ti Liu, Corinne D Engelman, Liana K Billings
Context: Vitamin D inadequacy is common in the adult population of the United States. While the genetic determinants underlying vitamin D inadequacy have been studied in people of European ancestry, less is known in Hispanic or African ancestry populations. Objective: The TRANSCEN-D (TRANS-ethniC Evaluation of vitamiN D GWAS) consortium was assembled to replicate genetic associations with 25-hydroxyvitamin D (25(OH)D) concentrations from the meta-analyses of European ancestry (SUNLIGHT) and to identify novel genetic variants related to vitamin D concentrations in African and Hispanic ancestries...
January 9, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29323730/biochemical-and-molecular-study-on-interleukin-1%C3%AE-gene-expression-and-relation-of-single-nucleotide-polymorphism-in-promoter-region-with-type-2-diabetes-mellitus
#10
Safaa I Tayel, Eman Am Fouda, Elsayed I Elshayeb, Asmaa Ra Eldakamawy, Salah M El-Kousy
Interleukin-1β (IL-1β) assumes a centric role in the regulation of immune and inflammatory responses and thus has been recognized in immune mediated diseases like type 2 diabetes mellitus (T2DM). We aimed to investigate expressed level of IL-1β and its relation with IL-1β -511T > C polymorphism in T2DM patients. This study enrolled 80 subjects (50 patients with T2DM and 30 healthy control subjects). Laboratory investigations included fasting (FBG) and 2h postprandial blood sugar (2h PBG), HBA1c, lipid profile and renal function tests...
January 11, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29321821/the-influence-of-glyoxalase-1-gene-polymorphism-on-its-expression-at-different-stages-of-breast-cancer-in-egyptian-women
#11
Rehab S Abdul-Maksoud, Walid Sh Elsayed, Rasha S Elsayed
Aim: To assess the association of GLO1 C332C gene polymorphism with breast cancer risk at different stages of the disease and to investigate the effect of this gene polymorphism on its mRNA expression and enzyme activity. Methods: GLO1 C332C gene polymorphism was analyzed by PCR-RFLP in 100 healthy controls and 200 patients with breast cancer (100 patients with stage I & II and 100 patients with stage III & IV). GLO1 mRNA expression was measured by real time PCR...
November 2017: Genes & Cancer
https://www.readbyqxmd.com/read/29321632/genome-wide-association-study-in-asia-adapted-tropical-maize-reveals-novel-and-explored-genomic-regions-for-sorghum-downy-mildew-resistance
#12
Zerka Rashid, Pradeep Kumar Singh, Hindu Vemuri, Pervez Haider Zaidi, Boddupalli Maruthi Prasanna, Sudha Krishnan Nair
Globally, downy mildews are among the important foliar diseases of maize that cause significant yield losses. We conducted a genome-wide association study for sorghum downy mildew (SDM; Peronosclerospora sorghi) resistance in a panel of 368 inbred lines adapted to the Asian tropics. High density SNPs from Genotyping-by-sequencing were used in GWAS after controlling for population structure and kinship in the panel using a single locus mixed model. The study identified a set of 26 SNPs that were significantly associated with SDM resistance, with Bonferroni corrected P values ≤ 0...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29321344/a-genetic-variant-in-col11a1-is-functionally-associated-with-lumbar-disc-herniation-in-chinese-population
#13
Wenjun Liu, Guisen Sun, Longsheng Guo, Lulu Wang, Weiqiang Fan, Minglei Lang, Dan Chen, Xinhao Yi
This study aimed to explore whether the genetic variant of COL11A1 is functionally associated with the development of lumbar disc herniation (LDH) in Chinese population. SNP rs1676486 of COL11A1 was genotyped in 647 patients and 532 healthy controls. The differences of genotype and allele distributions between LDH patients and healthy controls were evaluated using the χ² test. One-way ANOVA test was used to compare the relationship between genotypes and clinical features including tissue expression of COL11A1 and the degree of disc degeneration...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29320902/cd33-splicing-snp-regulates-expression-levels-of-cd33-in-normal-regenerating-monocytes-in-aml-patients
#14
Jatinder K Lamba, Andrew P Voigt, Lata Chauhan, Miyoung Shin, Richard Aplenc, Lisa Eidenschink Brodersen, Alan S Gamis, Soheil Meshinchi, Michael R Loken
No abstract text is available yet for this article.
January 10, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29320438/modeling-unobserved-heterogeneity-in-susceptibility-to-ambient-benzo-a-pyrene-concentration-among-children-with-allergic-asthma-using-an-unsupervised-learning-algorithm
#15
Daniel Fernández, Radim J Sram, Miroslav Dostal, Anna Pastorkova, Hans Gmuender, Hyunok Choi
Current studies of gene × air pollution interaction typically seek to identify unknown heritability of common complex illnesses arising from variability in the host's susceptibility to environmental pollutants of interest. Accordingly, a single component generalized linear models are often used to model the risk posed by an environmental exposure variable of interest in relation to a priori determined DNA variants. However, reducing the phenotypic heterogeneity may further optimize such approach, primarily represented by the modeled DNA variants...
January 10, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29318656/circadian-genes-and-risk-of-prostate-cancer-in-the-prostate-cancer-prevention-trial
#16
Lisa W Chu, Cathee Till, Baiyu Yang, Catherine M Tangen, Phyllis J Goodman, Kai Yu, Yong Zhu, Summer Han, Ashraful M Hoque, Christine Ambrosone, Ian Thompson, Robin Leach, Ann W Hsing
Circadian genes have been considered as a possible biological mechanism for the observed relationship between circadian rhythm disruptions and increased risk of hormone-related cancers. In the current study, we investigated the relationship between circadian gene variants and prostate cancer risk and whether reducing bioavailable testosterone modifies the circadian genes-prostate cancer relationship. We conducted a nested case-control study among Caucasian men in the Prostate Cancer Prevention Trial (PCPT), a randomized placebo-controlled clinical trial to assess if finasteride (an androgen bioactivation inhibitor) could prevent prostate cancer...
January 10, 2018: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/29318394/genetic-association-of-hcrtr2-adh4-and-clock-genes-with-cluster-headache-a-chinese-population-based-case-control-study
#17
Zhiliang Fan, Lei Hou, Dongjun Wan, Ran Ao, Dengfa Zhao, Shengyuan Yu
BACKGROUND: Cluster headache (CH), a rare primary headache disorder, is currently thought to be a genetic susceptibility which play a role in CH susceptibility. A large numbers of genetic association studies have confirmed that the HCRTR2 (Hypocretin Receptor 2) SNP rs2653349, and the ADH4 (Alcohol Dehydrogenase 4) SNP rs1126671 and rs1800759 polymorphisms are linked to CH. In addition, the CLOCK (Circadian Locomotor Output Cycles Kaput) gene is becoming a research hotspot for CH due to encoding a transcription factor that serves as a basic driving force for circadian rhythm in humans...
January 9, 2018: Journal of Headache and Pain
https://www.readbyqxmd.com/read/29317594/polymorphism-in-tmem132d-regulates-expression-and-anxiety-related-behavior-through-binding-of-rna-polymerase-ii-complex
#18
Roshan R Naik, Sergey V Sotnikov, Rebekka P Diepold, Stella Iurato, Patrick O Markt, Andrea Bultmann, Nadine Brehm, Tobias Mattheus, Beat Lutz, Angelika Erhardt, Elisabeth B Binder, Ulrike Schmidt, Florian Holsboer, Rainer Landgraf, Ludwig Czibere
TMEM132D is a candidate gene, where risk genotypes have been associated with anxiety severity along with higher mRNA expression in the frontal cortex of panic disorder patients. Concurrently, in a high (HAB) and low (LAB) trait anxiety mouse model, Tmem132d was found to show increased expression in the anterior cingulate cortex (aCC) of HAB as compared to LAB mice. To understand the molecular underpinnings underlying the differential expression, we sequenced the gene and found two single-nucleotide polymorphisms (SNPs) in the promoter differing between both lines which could explain the observed mRNA expression profiles using gene reporter assays...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29317321/differential-distribution-and-association-of-fto-rs9939609-gene-polymorphism-with-obesity-a-cross-sectional-study-among-two-tribal-populations-of-india-with-east-asian-ancestry
#19
Somorjit Singh Ningombam, Varhlun Chhungi, Masan Kambo Newmei, Sunanda Rajkumari, Naorem Kiranmala Devi, Prakash Ranjan Mondal, Kallur Nava Saraswathy
The fat mass and obesity associated (FTO) rs9939609 gene polymorphism is most widely studied in terms of obesity in various populations. Recently, the prevalence of obesity has been reported to be very high among the North-Eastern State of India. The major aim of the present study is to understand the extent of FTO rs9939609 gene polymorphism and its association with obesity among the two North-East Indian tribal populations with similar East Asian ancestry. Somatometric data and fasting blood sample were collected from 521 tribal individuals (258 Liangmai and 263 Mizo) of Manipur after obtaining written informed consent...
January 6, 2018: Gene
https://www.readbyqxmd.com/read/29315403/joint-associations-of-a-polygenic-risk-score-and-environmental-risk-factors-for-breast-cancer-in-the-breast-cancer-association-consortium
#20
Anja Rudolph, Minsun Song, Mark N Brook, Roger L Milne, Nasim Mavaddat, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Amber N Wilcox, John L Hopper, Melissa C Southey, Renske Keeman, Peter A Fasching, Matthias W Beckmann, Manuela Gago-Dominguez, Jose E Castelao, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Hermann Brenner, Volker Arndt, Hiltrud Brauch, Thomas Brüning, Arto Mannermaa, Veli-Matti Kosma, Diether Lambrechts, Machteld Keupers, Fergus J Couch, Celine Vachon, Graham G Giles, Robert J MacInnis, Jonine Figueroa, Louise Brinton, Kamila Czene, Judith S Brand, Marike Gabrielson, Keith Humphreys, Angela Cox, Simon S Cross, Alison M Dunning, Nick Orr, Anthony Swerdlow, Per Hall, Paul D P Pharoah, Marjanka K Schmidt, Douglas F Easton, Nilanjan Chatterjee, Jenny Chang-Claude, Montserrat García-Closas
Background: Polygenic risk scores (PRS) for breast cancer can be used to stratify the population into groups at substantially different levels of risk. Combining PRS and environmental risk factors will improve risk prediction; however, integrating PRS into risk prediction models requires evaluation of their joint association with known environmental risk factors. Methods: Analyses were based on data from 20 studies; datasets analysed ranged from 3453 to 23 104 invasive breast cancer cases and similar numbers of controls, depending on the analysed environmental risk factor...
January 5, 2018: International Journal of Epidemiology
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