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https://www.readbyqxmd.com/read/28931092/the-genome-wide-associated-candidate-gene-znf804a-and-psychosis-proneness-evidence-of-sex-modulated-association
#1
Marta de Castro-Catala, Aurea Mora-Solano, Thomas R Kwapil, Paula Cristóbal-Narváez, Tamara Sheinbaum, Anna Racioppi, Neus Barrantes-Vidal, Araceli Rosa
BACKGROUND: The Zinc finger protein 804A (ZNF804A) is a promising candidate gene for schizophrenia and the broader psychosis phenotype that emerged from genome-wide association studies. It is related to neurodevelopment and associated to severe symptoms of schizophrenia and alterations in brain structure, as well as positive schizotypal personality traits in non-clinical samples. Moreover, a female-specific association has been observed between ZNF804A and schizophrenia. AIM: The present study examined the association of two ZNF804A polymorphisms (rs1344706 and rs7597593) with the positive dimension of schizotypy and psychotic-like experiences in a sample of 808 non-clinical subjects...
2017: PloS One
https://www.readbyqxmd.com/read/28931044/the-performance-of-a-new-local-false-discovery-rate-method-on-tests-of-association-between-coronary-artery-disease-cad-and-genome-wide-genetic-variants
#2
Shuyan Mei, Ali Karimnezhad, Marie Forest, David R Bickel, Celia M T Greenwood
The maximum entropy (ME) method is a recently-developed approach for estimating local false discovery rates (LFDR) that incorporates external information allowing assignment of a subset of tests to a category with a different prior probability of following the null hypothesis. Using this ME method, we have reanalyzed the findings from a recent large genome-wide association study of coronary artery disease (CAD), incorporating biologic annotations. Our revised LFDR estimates show many large reductions in LFDR, particularly among the genetic variants belonging to annotation categories that were known to be of particular interest for CAD...
2017: PloS One
https://www.readbyqxmd.com/read/28930887/genetic-variant-near-plxdc2-influences-the-risk-of-primary-open-angle-glaucoma-by-increasing-intraocular-pressure-in-the-japanese-population
#3
Fumihiko Mabuchi, Nakako Mabuchi, Mitsuko Takamoto, Yoichi Sakurada, Seigo Yoneyama, Kenji Kashiwagi, Hiroyuki Iijima, Zentaro Yamagata, Makoto Aihara, Takeshi Iwata, Makoto Araie
PURPOSE: To assess the association between the genetic variants that were previously reported to be associated with primary open-angle glaucoma (POAG) in the Japanese population and the phenotypic features. METHODS: Six hundred sixty-one Japanese patients including 417 patients with POAG (normal tension glaucoma [NTG], n=210; high tension glaucoma [HTG], n=207) and 244 control subjects without glaucoma were analyzed for 3 genetic variants: rs547984 (near gene: ZP4), rs7081455 (PLXDC2), and rs7961953 (TMTC2)...
September 19, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28930689/integrating-enhancer-mechanisms-to-establish-a-hierarchical-blood-development-program
#4
Charu Mehta, Kirby D Johnson, Xin Gao, Irene M Ong, Koichi R Katsumura, Skye C McIver, Erik A Ranheim, Emery H Bresnick
Hematopoietic development requires the transcription factor GATA-2, and GATA-2 mutations cause diverse pathologies, including leukemia. GATA-2-regulated enhancers increase Gata2 expression in hematopoietic stem/progenitor cells and control hematopoiesis. The +9.5-kb enhancer activates transcription in endothelium and hematopoietic stem cells (HSCs), and its deletion abrogates HSC generation. The -77-kb enhancer activates transcription in myeloid progenitors, and its deletion impairs differentiation. Since +9...
September 19, 2017: Cell Reports
https://www.readbyqxmd.com/read/28930238/a-thrombomodulin-gene-polymorphism-c1418t-is-associated-with-early-outcomes-in-patients-undergoing-coronary-artery-bypass-graft-surgery-with-a-conventional-cardiopulmonary-bypass-during-hospitalization
#5
Ching-Chou Pai, Yi-Wen Lin, Yi-Ting Tsai, Shih-Hurng Loh, Chih-Yuan Lin, Chin-Sheng Lin, Yi-Chang Lin, Hung-Yen Ke, Feng-Yen Lin, Chien-Sung Tsai
Background: Thrombomodulin (TM) is a type of cell membrane-bound anticoagulant protein cofactor in the thrombin-mediated activation of protein C. Previous evidence has shown an association between TM polymorphisms and systemic inflammation. Conventional cardiopulmonary bypass (CPB), beating-heart CPB, and off-pump techniques have been widely used in cardiac surgery. However, these techniques may also cause systemic inflammatory responses in the patients. Whether TM polymorphisms are associated with systemic inflammation after cardiac surgery is still unclear...
April 23, 2017: Medicines (Basel, Switzerland)
https://www.readbyqxmd.com/read/28930021/blactx-m-27-encoding-escherichia-coli-sequence-type-131-lineage-c1-m27-clone-in-clinical-isolates-germany
#6
Hiren Ghosh, Swapnil Doijad, Linda Falgenhauer, Moritz Fritzenwanker, Can Imirzalioglu, Trinad Chakraborty
We examined extended-spectrum β-lactamase-producing isolates from livestock, humans, companion animals, food, and the environment during 2009-2016 in Germany for the presence of CTX-M-27 allele within Escherichia coli sequence type (ST) 131. E. coli ST131 C1-M27 was exclusively present in humans; its incidence increased from 0% in 2009 to 45% in 2016.
October 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28929945/innovative-pcr-without-dna-extraction-for-african-sickle-cell-disease-diagnosis
#7
L Detemmerman, S Olivier, V Bours, F Boemer
OBJECTIVES: Hemoglobin (Hb) disorders consist of thalassemia and Hb structural variants, of which the major forms are associated with severe anemia and/or vascular occlusion. Current diagnostic techniques are highly accurate and mostly based on isoelectric focusing, high-performance liquid chromatography or mass spectrometry, which often require advanced laboratory equipment. In sub-Saharan Africa, the Hb disorders are mainly associated to the pathological variants hemoglobin S (HbS) and HbC...
September 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28929824/size-and-methylation-mosaicism-in-males-with-fragile-x-syndrome
#8
Poonnada Jiraanont, Madhur Kumar, Hiu-Tung Tang, Glenda Espinal, Paul J Hagerman, Randi J Hagerman, Nuanchan Chutabhakdikul, Flora Tassone
OBJECTIVES: Size and methylation mosaicism are a common phenomenon in Fragile X syndrome (FXS). Here, the authors report a study on twelve fragile X males with atypical mosaicism, seven of whom presented with autism spectrum disorder. METHODS: Southern Blot and PCR analysis was used for CGG allele sizing and methylation. FMR1 mRNA and FMRP expression were measured by qRT-PCR and by Homogeneous Time Resolved Fluorescence methodology respectively. RESULTS: DNA analysis showed atypical size- or methylation-mosaicism with both, full mutation and smaller (normal to premutation) alleles, as well as a combination of methylated and unmethylated alleles...
September 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28929626/association-of-human-platelet-antigens-polymorphisms-with-susceptibility-to-hepatitis-c-virus-infection-in-chinese-population
#9
S-H Zhou, X-H Liang, L-N Shao, W-J Yu, C Zhao, M Liu
Hepatitis C virus (HCV) is a major cause of chronic hepatitis. Previous studies have identified a number of single nucleotide polymorphisms that are associated with HCV infection. Human platelet antigens (HPAs) polymorphisms play an important role in several diseases. Here, we demonstrated the association of the HPA-2, HPA-3, HPA-5 and HPA-15 polymorphisms with susceptibility to HCV infection in Chinese population. Overall, 118 patients with HCV and 167 controls were genotyped for HPAs. There were no significant differences in the allele and genotype frequency distribution for the HPA-3, HPA-5 and HPA-15 systems between the patients with chronic HCV infection and the healthy controls (p > ...
September 20, 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28929613/hla-g-gene-14-bp-deletion-variant-protects-iranian-subjects-against-chronic-hepatitis-b-infection
#10
E Eskandari, T Dahmardeh, V Safdari, S Khosravi, E Pahlevani
To investigate whether 14-bp Ins/Del polymorphism in HLA-G gene is associated with the risk of chronic hepatitis B (CHB) infection. This study was performed on a total of 396 individuals including 199 CHB patients and 197 healthy subjects from a south-east Iranian population. We genotyped 14-bp Ins/Del polymorphism in the HLA-G gene using polymerase chain reaction method. The results of our study revealed that the HLA-G 14-bp deletion polymorphism was associated with a reduced risk of CHB at both allele and genotypic levels...
September 20, 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28929497/genetic-diversity-and-paternal-origin-of-domestic-donkeys
#11
H Han, N Chen, J Jordana, C Li, T Sun, X Xia, X Zhao, C Ji, S Shen, J Yu, F Ainhoa, H Chen, C Lei, R Dang
Numerous studies have been conducted to investigate genetic diversity, origins and domestication of donkey using autosomal microsatellites and the mitochondrial genome, whereas the male-specific region of the Y chromosome of modern donkeys is largely uncharacterized. In the current study, 14 published equine Y chromosome-specific microsatellites (Y-STR) were investigated in 395 male donkey samples from China, Egypt, Spain and Peru using fluorescent labeled microsatellite markers. The results showed that seven Y-STRs-EcaYP9, EcaYM2, EcaYE2, EcaYE3, EcaYNO1, EcaYNO2 and EcaYNO4-were male specific and polymorphic, showing two to eight alleles in the donkeys studied...
September 19, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28929400/can-polymorphisms-in-the-fatty-acid-desaturase-fads-gene-cluster-alter-the-effects-of-fish-oil-supplementation-on-plasma-and-erythrocyte-fatty-acid-profiles-an-exploratory-study
#12
Suzanne J Meldrum, Yuchun Li, Guicheng Zhang, Alexandra E M Heaton, Nina D'Vaz, Judith Manz, Eva Reischl, Berthold V Koletzko, Susan L Prescott, Karen Simmer
PURPOSE: The enzymes encoded by fatty acid desaturases (FADS) genes determine the desaturation of long-chain polyunsaturated fatty acids (LCPUFA). We investigated if haplotype and single nucleotide polymorphisms (SNPs) in FADS gene cluster can influence LCPUFA status in infants who received either fish oil or placebo supplementation. METHODS: Children enrolled in the Infant Fish Oil Supplementation Study (IFOS) were randomly allocated to receive either fish oil or placebo from birth to 6 months of age...
September 19, 2017: European Journal of Nutrition
https://www.readbyqxmd.com/read/28929317/risk-alleles-for-iga-nephropathy-associated-snps-conferred-completely-opposite-effects-to-idiopathic-membranous-nephropathy-in-chinese-han
#13
Xiaosong Qin, Chen Wang, Guanting Lu, Mengle Peng, Guixue Cheng, Hongquan Zhu, Yun Cao, Jianhua Liu, Yuzhong Li, Hong Cai, Funing Yang, Yanhong Liu, Xiaoyu Chen, Liubing Li, Nan Wan, Xiaoting Wen, Shijun Li, Ruili Nie, Dongchun Qin, Yongzhe Li, Yong Liu
The coexistence of immunoglobulin A nephropathy (IgAN) and idiopathic membranous nephropathy (IMN) in a few cases suggested that there could be existed a similar mechanism in pathogenesis of these two types of primary glomerulonephritis. In order to verify this hypothesis, a total of 23 reported IgAN-associated SNPs were genotyped in a cohort of 485 IMN patients and 569 healthy controls with Chinese Han origin. After Cochran-Armitage test for trend analysis, seven IgAN-associated SNPs located in the major histocompatibility complex (MHC) region were found to be significantly associated with the susceptibility of IMN, with rs9275596 as the top one (p = 1...
September 19, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28929114/association-between-adam12-single-nucleotide-polymorphisms-and-knee-osteoarthritis-a-meta-analysis
#14
REVIEW
Zheng-Tao Lv, Shuang Liang, Xiao-Jian Huang, Peng Cheng, Wen-Tao Zhu, An-Min Chen
OBJECTIVE: ADAM12 polymorphisms may be associated with the risk of knee osteoarthritis (KOA), but currently available evidence remains controversial. We performed this meta-analysis to confirm whether ADAM12 polymorphisms were associated with susceptibility of KOA. METHODS: A comprehensive literature search in PubMed, EMBASE, and ISI Web of Science was conducted to identify observational studies assessing the association between ADAM12 polymorphisms and susceptibility of KOA...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28929109/genetic-variants-in-the-hedgehog-interacting-protein-gene-are-associated-with-the-fev1-fvc-ratio-in-southern-han-chinese-subjects-with-chronic-obstructive-pulmonary-disease
#15
Zili Zhang, Jian Wang, Zeguang Zheng, Xindong Chen, Xiansheng Zeng, Yi Zhang, Defu Li, Jiaze Shu, Kai Yang, Ning Lai, Lian Dong, Wenju Lu
BACKGROUND: Convincing evidences have demonstrated the associations between HHIP and FAM13a polymorphisms and COPD in non-Asian populations. Here genetic variants in HHIP and FAM13a were investigated in Southern Han Chinese COPD. METHODS: A case-control study was conducted, including 989 cases and 999 controls. The associations between SNPs genotypes and COPD were performed by a logistic regression model; for SNPs and COPD-related phenotypes such as lung function, COPD severity, pack-year of smoking, and smoking status, a linear regression model was employed...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28929029/association-of-rs1801157-single-nucleotide-polymorphism-of-cxcl12-gene-in-breast-cancer-in-pakistan-and-in-silico-expression-analysis-of-cxcl12-cxcr4-associated-biological-regulatory-network
#16
Samra Khalid, Rumeza Hanif
BACKGROUND: C-X-C chemokine ligand 12 (CXCL12) has important implications in breast cancer (BC) pathogenesis. It is selectively expressed on B and T lymphocytes and is involved in hematopoiesis, thymocyte trafficking, stem cell motility, neovascularization, and tumorigenesis. The single nucleotide polymorphism (SNP) rs1801157 of CXCL12 gene has been found to be associated with higher risk of BC. METHODS: Our study focuses on the genotypic and allelic distribution of SNP (rs1801157; G/A) in Pakistani population as well as its association with the clinico-pathological features...
2017: PeerJ
https://www.readbyqxmd.com/read/28929021/allele-specific-expression-and-methylation-in-the-bumblebee-bombus-terrestris
#17
Zoë Lonsdale, Kate Lee, Maria Kiriakidu, Harindra Amarasinghe, Despina Nathanael, Catherine J O'Connor, Eamonn B Mallon
The social hymenoptera are emerging as models for epigenetics. DNA methylation, the addition of a methyl group, is a common epigenetic marker. In mammals and flowering plants methylation affects allele specific expression. There is contradictory evidence for the role of methylation on allele specific expression in social insects. The aim of this paper is to investigate allele specific expression and monoallelic methylation in the bumblebee, Bombus terrestris. We found nineteen genes that were both monoallelically methylated and monoallelically expressed in a single bee...
2017: PeerJ
https://www.readbyqxmd.com/read/28928950/using-sheep-genomes-from-diverse-u-s-breeds-to-identify-missense-variants-in-genes-affecting-fecundity
#18
Michael P Heaton, Timothy P L Smith, Bradley A Freking, Aspen M Workman, Gary L Bennett, Jacky K Carnahan, Theodore S Kalbfleisch
Background:  Access to sheep genome sequences significantly improves the chances of identifying genes that may influence the health, welfare, and productivity of these animals.   Methods:  A public, searchable DNA sequence resource for U.S. sheep was created with whole genome sequence (WGS) of 96 rams.  The animals shared minimal pedigree relationships and represent nine popular U.S. breeds and a composite line.  The genomes are viewable online with the user-friendly Integrated Genome Viewer environment, and may be used to identify and decode gene variants present in U...
2017: F1000Research
https://www.readbyqxmd.com/read/28928763/comparative-mapping-and-candidate-gene-analysis-of-ssiia-associated-with-grain-amylopectin-content-in-barley-hordeum-vulgare-l
#19
Xiangyun Fan, Juan Zhu, Wenbin Dong, Yuandong Sun, Chao Lv, Baojian Guo, Rugen Xu
Amylopectin concentration in barley endosperm has important effects on grain quality and end-use. In this study, quantitative trait locus (QTL) analysis together with genome-wide association studies (GWAS) were performed to identify markers linked to grain amylopectin content respectively using a doubled haploid (DH) population of 178 lines and a collection of 185 diverse barley germplasms both genotyped by genotyping-by-sequencing (GBS). A stable QTL on chromosome 7H and 11 associated single nucleotide polymorphisms (SNPs) were detected...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28928752/climate-clever-clovers-new-paradigm-to-reduce-the-environmental-footprint-of-ruminants-by-breeding-low-methanogenic-forages-utilizing-haplotype-variation
#20
Parwinder Kaur, Rudi Appels, Philipp E Bayer, Gabriel Keeble-Gagnere, Jiankang Wang, Hideki Hirakawa, Kenta Shirasawa, Philip Vercoe, Katia Stefanova, Zoey Durmic, Phillip Nichols, Clinton Revell, Sachiko N Isobe, David Edwards, William Erskine
Mitigating methane production by ruminants is a significant challenge to global livestock production. This research offers a new paradigm to reduce methane emissions from ruminants by breeding climate-clever clovers. We demonstrate wide genetic diversity for the trait methanogenic potential in Australia's key pasture legume, subterranean clover (Trifolium subterraneum L.). In a bi-parental population the broadsense heritability in methanogenic potential was moderate (H(2) = 0.4) and allelic variation in a region of Chr 8 accounted for 7...
2017: Frontiers in Plant Science
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