keyword
MENU ▼
Read by QxMD icon Read
search

Single Polymorphism Nucleotide (SNPs)

keyword
https://www.readbyqxmd.com/read/28212192/genetic-control-of-erythropoiesis
#1
Laxminath Tumburu, Swee Lay Thein
PURPOSE OF REVIEW: The discovery of several genetic variants associated with erythroid traits and subsequent elucidation of their functional mechanisms are exemplars of the power of the new genetic and genomic technology. The present review highlights findings from recent genetic studies related to the control of erythropoiesis and dyserythropoiesis, and fetal hemoglobin, an erythroid-related trait. RECENT FINDINGS: Identification of the genetic modulators of erythropoiesis involved two approaches: genome-wide association studies (GWASs) using single nucleotide polymorphism (SNP) arrays that revealed the common genetic variants associated with erythroid phenotypes (hemoglobin, red cell count, MCV, MCH) and fetal hemoglobin; and massive parallel sequencing such as whole genome sequencing (WGS) and whole exome sequencing (WES) that led to the discovery of the rarer variants (GFI1B, SBDS, RPS19, PKLR, EPO, EPOR, KLF1, GATA1)...
February 15, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28210265/rna-seq-of-guar-cyamopsis-tetragonoloba-l-taub-leaves-de-novo-transcriptome-assembly-functional-annotation-and-development-of-genomic-resources
#2
Umesh K Tanwar, Vikas Pruthi, Gursharn S Randhawa
Genetic improvement in industrially important guar (Cyamopsis tetragonoloba, L. Taub.) crop has been hindered due to the lack of sufficient genomic or transcriptomic resources. In this study, RNA-Seq technology was employed to characterize the transcriptome of leaf tissues from two guar varieties, namely, M-83 and RGC-1066. Approximately 30 million high-quality pair-end reads of each variety generated by Illumina HiSeq platform were used for de novo assembly by Trinity program. A total of 62,146 non-redundant unigenes with an average length of 679 bp were obtained...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28210080/il23r-single-nucleotide-polymorphisms-could-be-either-beneficial-or-harmful-in-ulcerative-colitis
#3
Sarah Fischer, Erzsébet Kövesdi, Lili Magyari, Veronika Csöngei, Kinga Hadzsiev, Béla Melegh, Péter Hegyi, Patrícia Sarlós
AIM: To investigate the association of seven single nucleotide polymorphisms (SNPs) of the IL23R gene with the clinical picture of ulcerative colitis (UC). METHODS: Genomic DNA samples of 131 patients (66 males, 65 females, mean age 55.4 ± 15.8 years) with Caucasian origin, diagnosed with UC were investigated. The diagnosis of UC was based on the established clinical, endoscopic, radiological, and histopathological guidelines. DNA was extracted from peripheral blood leukocytes by routine salting out method...
January 21, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28208753/possible-impact-of-190g-a-ccr2-and-%C3%AE-32-ccr5-mutations-on-decrease-of-the-hbv-vaccine-immunogenicity-a-preliminary-report
#4
Maria Ganczak, Karolina Skonieczna-Żydecka, Marzena Drozd-Dąbrowska, Grażyna Adler
Background: Chemokine genetic variations are involved in infectious diseases such as hepatitis B virus (HBV). Several allelic variants might, in theory, affect the outcome of vaccination. Objectives: This study was carried out to examine the associations of Δ32 CCR5 and 190G > A CCR2 polymorphisms with a response to a primary course of three HBV vaccinations. Methods: Between December 2014 and December 2016, patients from three randomly selected primary care clinics in the West Pomeranian region (Poland), 1 month after receiving the third dose of HBV vaccine, were enrolled...
February 8, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28208135/abcb1-and-slco1b3-gene-polymorphisms-and-their-impact-on-digoxin-pharmacokinetics-in-atrial-fibrillation-patients-among-the-tunisian-population
#5
Nejia Tounsi, Imen Trabelsi, Emna Kerkeni, Mohamed Habib Grissa, Nizar Fredj, Adel Sekma, Malek Mzali, Ilhem Hellara, Kamel Monastiri, Wahiba Douki, Semir Nouira
BACKGROUND: Digoxin is a substrate of P-glycoprotein (P-gp) and organic anion transporting polypeptide transporters that are encoded by ABCB1 and SLCO1B3 genes. Genetic polymorphisms in both genes may explain inter-individual variability of serum digoxin concentration (SDC). This study evaluates the possible effect of the most common ABCB1 and SLCO1B3 polymorphisms on SDC after a single oral dose of digoxin in Tunisian atrial fibrillation (AF) patients. METHODS: ABCB1 and SLCO1B3 genotypes were analyzed in 102 patients with AF who received digoxin (0...
February 17, 2017: Pharmacology
https://www.readbyqxmd.com/read/28207827/replication-of-snp-associations-with-keratoconus-in-a-czech-cohort
#6
Petra Liskova, Lubica Dudakova, Anna Krepelova, Jiri Klema, Pirro G Hysi
INTRODUCTION: Keratoconus is a relatively frequent disease leading to severe visual impairment. Existing therapies are imperfect and clinical management may benefit from improved understanding of mechanisms leading to this disease. We aim to investigate the replication of 11 single nucleotide polymorphisms (SNPs) with keratoconus. METHODS: SNPs from loci previously found in association with keratoconus were genotyped in 165 keratoconus cases of Caucasian Czech origin (108 males and 57 females) and 193 population and gender-matched controls...
2017: PloS One
https://www.readbyqxmd.com/read/28207535/an-investigation-of-obesity-susceptibility-genes-in-northern-han-chinese-by-targeted-resequencing
#7
Yili Wu, Weijing Wang, Wenjie Jiang, Jie Yao, Dongfeng Zhang
Our earlier genome-wide linkage study of body mass index (BMI) showed strong signals from 7q36.3 and 8q21.13. This case-control study set to investigate 2 genomic regions which may harbor variants contributed to development of obesity.We employed targeted resequencing technology to detect single nucleotide polymorphisms (SNPs) in 7q36.3 and 8q21.13 from 16 individuals with obesity. These were compared with 504 East Asians in the 1000 Genomes Project as a reference panel. Linkage disequilibrium (LD) block analysis was performed for the significant SNPs located near the same gene...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28207326/micro-rna-146a-but-not-irak1-is-associated-with-rheumatoid-arthritis-in-the-tunisian-population
#8
Hana Ben Hassine, Asma Boumiza, Rim Sghiri, Khadija Baccouche, Imen Boussaid, Ahlem Atig, Zahid Shakoor, Elyes Bouajina, Ramzi Zemni
BACKGROUND: Rheumatoid arthritis (RA) is characterized by the production of an array of proinflammatory cytokines through the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) signaling pathway. Interleukin-1 receptor (IL-1R) and Toll-like receptors contain a common cytoplasmic motif the Toll/IL-1R (TIR) homology domain. This motif is required for NF-κB activation. IL-1R-associated kinase 1 (IRAK1) is a key adapter molecule recruited during the signaling cascade of the TIR...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28206971/impact-of-vascular-endothelial-growth-factor-gene-gene-and-gene-smoking-interaction-and-haplotype-combination-on-bladder-cancer-risk-in-chinese-population
#9
Dian Fu, Ping Li, Wen Cheng, Feng Tian, Xiaofeng Xu, Xiaoming Yi, Chaopeng Tang, Yongzhong Wang, Quansheng Hu, Zhengyu Zhang
AIMS: To investigate the association of single nucleotide polymorphisms (SNPs) within vascular endothelial growth factor (VEGF) gene polymorphisms, additional gene- gene and gene- smoking interactions with bladder cancer risk. RESULTS: Bladder cancer risk was significantly higher in carriers of the rs699947- A allele within VEGF gene than those with rs699947- CC genotype (CA+ AA versus CC), adjusted OR (95%CI) = 1.70 (1.16-2.31), and higher in carriers of the rs833052- A allele of within VEGF gene than those with rs833052- CC genotype (CA+ AA versus CC), adjusted OR (95%CI) = 1...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28205274/genetic-variants-rs1994016-and-rs3825807-in-adamts7-affect-its-mrna-expression-in-atherosclerotic-occlusive-peripheral-arterial-disease
#10
Burcu Bayoglu, Caner Arslan, Cigdem Tel, Turgut Ulutin, Ahmet Dirican, Serkan Burc Deser, Mujgan Cengiz
AIM: Peripheral artery disease (PAD) is a vascular disease affecting peripheral circulation. Recently, genome-wide association studies revealed a relationship between single nucleotide polymorphisms (SNPs) in ADAMTS7 (a disintegrin and metalloprotease with thrombospondin motif 7) and atherosclerosis. In this study, we aimed to determine ADAMTS7 expression in peripheral blood mononuclear cells (PBMCs) and the frequency of ADAMTS7 rs1994016 and rs3825807 polymorphisms in a sample of Turkish patients with PAD, and to evaluate the association of matrix metalloproteinase (MMP) levels with PAD development...
February 15, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28205043/a-polygenic-risk-score-for-breast-cancer-risk-in-a-taiwanese-population
#11
Yi-Chen Hsieh, Shih-Hsin Tu, Chien-Tien Su, Er-Chieh Cho, Chih-Hsiung Wu, Mao-Chih Hsieh, Shiyng-Yu Lin, Yun-Ru Liu, Chin-Sheng Hung, Hung-Yi Chiou
BACKGROUND: Multiple common variants identified by genome-wide association studies showed limited evidence of the risk of breast cancer in Taiwan. In this study, we analyzed the breast cancer risk in relation to 13 individual single-nucleotide polymorphisms (SNPs) identified by a GWAS in an Asian population. METHODS: In total, 446 breast cancer patients and 514 healthy controls were recruited for this case-control study. In addition, we developed a polygenic risk score (PRS) including those variants significantly associated with breast cancer risk, and also evaluated the contribution of PRS and clinical risk factors to breast cancer using receiver operating characteristic curve (AUC)...
February 15, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28204905/transcriptome-assembly-and-identification-of-genes-and-snps-associated-with-growth-traits-in-largemouth-bass-micropterus-salmoides
#12
Shengjie Li, Hao Liu, Junjie Bai, Xinping Zhu
Growth is one of the most crucial economic traits of all aquaculture species, but the molecular mechanisms involved in growth of largemouth bass (Micropterus salmoides) are poorly understood. The objective of this study was to screen growth-related genes of M. salmoides by RNA sequencing and identify growth-related single-nucleotide polymorphism (SNP) markers through a growth association study. The muscle transcriptomes of fast- and slow-growing largemouth bass were obtained using the RNA-Seq technique. A total of 54,058,178 and 54,742,444 qualified Illumina read pairs were obtained for the fast-growing and slow-growing groups, respectively, giving rise to 4,865,236,020 and 4,926,819,960 total clean bases, respectively...
February 15, 2017: Genetica
https://www.readbyqxmd.com/read/28203683/identification-of-unique-venous-thromboembolism-susceptibility-variants-in-african-americans
#13
John A Heit, Sebastian M Armasu, Bryan M McCauley, Iftikhar J Kullo, Hugues Sicotte, Jyotishman Pathak, Christopher G Chute, Omri Gottesman, Erwin P Bottinger, Joshua C Denny, Dan M Roden, Rongling Li, Marylyn D Ritchie, Mariza de Andrade
To identify novel single nucleotide polymorphisms (SNPs) associated with venous thromboembolism (VTE) in African-Americans (AAs), we performed a genome-wide association study (GWAS) of VTE in AAs using the Electronic Medical Records and Genomics (eMERGE) Network, comprised of seven sites each with DNA biobanks (total ~39,200 unique DNA samples) with genome-wide SNP data (imputed to 1000 Genomes Project cosmopolitan reference panel) and linked to electronic health records (EHRs). Using a validated EHR-driven phenotype extraction algorithm, we identified VTE cases and controls and tested for an association between each SNP and VTE using unconditional logistic regression, adjusted for age, sex, stroke, site-platform combination and sickle cell risk genotype...
February 16, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28203040/a-case-control-study-of-the-association-between-polymorphisms-in-the-fibrinogen-alpha-chain-gene-and-schizophrenia
#14
Wenwang Rao, Na Zhou, Huiping Zhang, Rui Liu, Shangchao Zhang, Yingying Su, Guang Yang, Yue Ma, Jieping Shi, Yaqin Yu, Qiong Yu
Our previous studies using the mass spectrum analysis provided evidence that fibrinopeptide A (FPA) could be a potential biomarker for schizophrenia diagnosis. We sought further to demonstrate that variants in the fibrinogen alpha chain gene (FGA) coded FPA might confer vulnerability to schizophrenia. 1,145 patients with schizophrenia and 1,016 healthy volunteers from the Han population in Northeast China were recruited. The association of three tag single nucleotide polymorphisms (SNPs) (rs2070011 in the 5'UTR, rs2070016 in intron 4, and rs2070022 in the 3'UTR) in FGA and schizophrenia was examined using a case-control study design...
2017: Disease Markers
https://www.readbyqxmd.com/read/28202837/association-of-common-polymorphisms-with-gestational-diabetes-mellitus-in-japanese-women-a-case-control-study
#15
Yoshifumi Kasuga, Kenichiro Hata, Atsushi Tajima, Daigo Ochiai, Yoshifumi Saisho, Tadashi Matsumoto, Naoko Arata, Kei Miyakoshi, Mamoru Tanaka
Gestational diabetes (GDM) and type 2 diabetes (T2DM) share part of pathomechanism and several T2DM susceptibility genes are demonstrated to be associated with GDM. No information on the genetics of GDM, however, was available in Japanese women. In this study, T2DM risk variants (45 single nucleotide polymorphisms [SNPs] from 36 genes) identified in previous studies were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry in a cohort of 171 Japanese women with GDM and 128 normal glucose tolerance (NGT) diagnosed by the new International Association of Diabetes in Pregnancy Study Group criteria...
February 16, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28202046/highly-predictive-snp-markers-for-efficient-selection-of-the-wheat-leaf-rust-resistance-gene-lr16
#16
Mulualem T Kassa, Frank M You, Colin W Hiebert, Curtis J Pozniak, Pierre R Fobert, Andrew G Sharpe, James G Menzies, D Gavin Humphreys, Nicole Rezac Harrison, John P Fellers, Brent D McCallum, Curt A McCartney
BACKGROUND: Lr16 is a widely deployed leaf rust resistance gene in wheat (Triticum aestivum L.) that is highly effective against the North American Puccinia triticina population when pyramided with the gene Lr34. Lr16 is a seedling leaf rust resistance gene conditioning an incompatible interaction with a distinct necrotic ring surrounding the uredinium. Lr16 was previously mapped to the telomeric region of the short arm of wheat chromosome 2B. The goals of this study were to develop numerous single nucleotide polymorphism (SNP) markers for the Lr16 region and identify diagnostic gene-specific SNP marker assays for marker-assisted selection (MAS)...
February 15, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28199971/association-and-interaction-effects-of-alzheimer-s-disease-associated-genes-and-lifestyle-on-cognitive-aging-in-older-adults-in-a-taiwanese-population
#17
Eugene Lin, Shih-Jen Tsai, Po-Hsiu Kuo, Yu-Li Liu, Albert C Yang, Chung-Feng Kao
Genome-wide association studies and meta-analyses implicated that increased risk of developing Alzheimer's diseases (AD) has been associated with the ABCA7, APOE, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB1, HLA-DRB4, INPP5D, MEF2C, MS4A4A, MS4A4E, MS4A6E, NME8, PICALM, PLD3, PTK2B, RIN3, SLC24A4, SORL1, and ZCWPW1 genes. In this study, we assessed whether single nucleotide polymorphisms (SNPs) within these 27 AD-associatedgenes are linked with cognitive aging independently and/or through complex interactions in an older Taiwanese population...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28199970/three-single-nucleotide-polymorphisms-of-tnfaip3-gene-increase-the-risk-of-rheumatoid-arthritis
#18
Nan Shen, Yuan Ruan, Yajun Lu, Xuefeng Jiang, Huiqing Sun, Gongming Gao, Luming Nong, Kewei Ren
Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by chronic destructive inflammation in synovial joints. To date, many studies explored the associations between tumor necrosis factor alpha inducible protein 3 (TNFAIP3) gene rs6920220, rs2230926, and rs5029937 polymorphisms and the risk of rheumatoid arthritis (RA), but with contradictory results. We therefore conducted a comprehensive meta-analysis to address the associations. We searched in the databases of PubMed and Embase. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by the Stata 11...
February 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28199753/tnf-%C3%AE-308g-a-and-tnf-r1-36a-g-single-nucleotide-polymorphisms-are-strong-risk-factors-for-odontogenic-keratocystic-tumor-development
#19
Branislav Ilic, Nadja Nikolic, Miroslav Andric, Drago Jelovac, Biljana Milicic, Tanja Jozic, Slobodan Krstic, Jelena Milasin
BACKGROUND: Polymorphisms in genes encoding tumor necrosis factor α (TNF α) and its receptor TNF-R1, have been shown to affect one person's susceptibility to develop certain neoplastic diseases. The aim of the present association study was to investigate whether single nucleotide polymorphisms (SNPs) in TNF α (-308G>A) and TNF-R1 (36A>G) genes modulate the susceptibility for keratocystic odontogenic tumors (KCOTs) development in Serbian patients. METHODS: Genotyping was done in 60 KCOT patients and 125 healthy individuals, using polymerase chain reaction/restriction fragment length polymorphism analysis...
February 15, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28199072/genetic-risk-score-analysis-in-early-onset-bipolar-disorder
#20
Paul E Croarkin, Joan L Luby, Kelly Cercy, Jennifer R Geske, Marin Veldic, Matthew Simonson, Paramjit T Joshi, Karen Dineen Wagner, John T Walkup, Malik M Nassan, Alfredo B Cuellar-Barboza, Leah Casuto, Susan L McElroy, Peter S Jensen, Mark A Frye, Joanna M Biernacka
OBJECTIVE: In this study, we performed a candidate genetic risk score (GRS) analysis of early-onset bipolar disorder (BD). METHODS: Treatment of Early Age Mania (TEAM) study enrollment and sample collection took place from 2003 to 2008. Mayo Clinic Bipolar Biobank samples were collected from 2009 to 2013. Genotyping and analyses for the present study took place from 2013 to 2014. The diagnosis of BD was based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision criteria...
February 14, 2017: Journal of Clinical Psychiatry
keyword
keyword
97148
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"