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Single nucleotide polymorphisms (SNPs)

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https://www.readbyqxmd.com/read/28538701/chlorpromazine-increases-the-expression-of-polysialic-acid-polysia-in-human-neuroblastoma-cells-and-mouse-prefrontal-cortex
#1
Chikara Abe, Saki Nishimura, Airi Mori, Yuki Niimi, Yi Yang, Masaya Hane, Ken Kitajima, Chihiro Sato
The neural cell adhesion molecule (NCAM) is modified by polysialic acid (polySia or PSA) in embryonic brains. In adult brains, polySia modification of NCAM is only observed in restricted areas where neural plasticity, remodeling of neural connections, or neural generation is ongoing although the amount of NCAM remains unchanged. Impairments of the polySia-expression and several single nucleotide polymorphisms (SNPs) of the polysialyltransferase (polyST) ST8SIA2 gene are reported to be associated with schizophrenia and bipolar disorder...
May 24, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28538040/interleukin-10-592c-a-but-not-1082a-g-promoter-single-nucleotide-polymorphism-is-associated-with-a-decreased-risk-of-colorectal-cancer-in-an-ethnic-kashmiri-population-a-case-control-study
#2
Mujeeb Z Banday, Aga S Sameer, Nissar A Chowdri, Ehtishamul Haq
Chronic inflammation influences the development of various cancers including colorectal cancer (CRC). Interleukin-10 (IL-10), an anti-inflammatory cytokine, plays a vital role in several homeostatic physiological processes occurring in the human gastrointestinal tract including intestinal inflammation and is a key regulator of several gastrointestinal tract pathophysiological processes such as inflammatory bowel diseases that are associated with an increased predisposition to CRC. Several studies have reported the association of various polymorphisms in the human IL-10 gene including IL-10 -592C/A and IL-10 -1082A/G single nucleotide polymorphisms (SNPs) with various cancers including CRC, but these SNPs are yet to be studied in a Kashmiri population with respect to CRC risk...
May 19, 2017: European Journal of Cancer Prevention
https://www.readbyqxmd.com/read/28537877/clinical-validation-of-genetic-variants-associated-with-in-vitro-chemotherapy-related-lymphoblastoid-cell-toxicity
#3
Peter A Fasching, Lothar Häberle, Brigitte Rack, Liang Li, Alexander Hein, Arif B Ekici, Andre Reis, Michael P Lux, Julie M Cunningham, Matthias Ruebner, Gergory Jenkins, Brooke Fridley, Andreas Schneeweiss, Hans Tesch, Werner Lichtenegger, Tanja Fehm, Georg Heinrich, Mahdi Rezai, Matthias W Beckmann, Wolfgang Janni, Richard M Weinshilboum, Liewei Wang
Hematotoxicity is one of the major side effects of chemotherapy. The aim of this study was to examine the association between single nucleotide polymorphisms (SNPs) and hematotoxicity in breast cancer patients in a subset of patients of the SUCCESS prospective phase III chemotherapy study. All patients (n = 1678) received three cycles of 5-fluorouracil, epirubicin, and cyclophosphamide (FEC) followed by three cycles of docetaxel or docetaxel/gemcitabine, depending on randomization. Germline DNA was genotyped for 246 SNPs selected from a previous genome-wide association study (GWAS) in a panel of lymphoblastoid cell lines, with gemcitabine toxicity as the phenotype...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28537708/nonsynonymous-polymorphisms-in-the-human-as3mt-arsenic-methylation-gene-implications-for-arsenic-toxicity
#4
Jiaojiao Li, Charles Packianathan, Toby G Rossman, Barry P Rosen
Arsenic methylation, the primary biotransformation in the human body, is catalyzed by the enzyme As(III) S-adenosylmethionine (SAM) methyltransferases (hAS3MT). This process is thought to be protective from acute high-level arsenic exposure. However, with long term low-level exposure, hAS3MT produces intracellular methylarsenite (MAs(III)) and dimethylarsenite (DMAs(III)), which are considerably more toxic than inorganic As(III) and may contribute to arsenic-related diseases. Several single nucleotide polymorphisms (SNPs) in putative regulatory elements of the hAS3MT gene have been shown to be protective...
May 24, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28534704/associations-of-cyp4a11-gene-gene-and-gene-smoking-interactions-with-essential-hypertension-in-the-male-eastern-chinese-han-population
#5
Huimin Zhang, Limin Jin, Tonglu Mu, Yingying Fan, Haiyang Zhang, Yuhua Zhu, Xujie Mao, Rong Li, Siyuan Tang
OBJECTIVES: The aim of this study was to investigate the impact of CYP4A11 single-nucleotide polymorphisms (SNP), additional gene-gene and gene-environment interactions on essential hypertension (EH) risk. METHODS: A total of 1648 participants (788 males, 860 females), with a mean age of 56.1 ± 14.1 years old, were selected, including 820 EH patients and 828 normotension subjects. Logistic regression was performed to investigate association of SNPs within CYP4A11 gene with high DBP, high SBP and EH risk, and generalized multifactor dimensionality reduction (GMDR) was used to analyze the gene-gene interaction and gene-smoking interaction...
May 23, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28534360/association-of-microrna-933-variant-with-the-susceptibility-to-gastric-cancer
#6
Yitong Zhang, Yanyun Ma, Weihong Xu, Wenshuai Li, Pei Min, Jigang Qiu, Min Li, Feng Tang, Mingqing Zhang, Dongqin Yang, Jun Zhang
PURPOSE: Common single-nucleotide polymorphisms (SNPs) in microRNAs (miRs) have been shown to be associated with susceptibility to several types of human cancer. However, the association of miR-933 rs79402775 with gastric cancer (GC) has not been explored. METHODS: The association between rs79402775 in miR- 933 and the risk of GC was explored in Chinese population based on MassARRAY technology. A total 374 GC patients and 999 cancer-free controls were enrolled in this study...
March 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28534238/a-fast-algorithm-for-bayesian-multi-locus-model-in-genome-wide-association-studies
#7
Weiwei Duan, Yang Zhao, Yongyue Wei, Sheng Yang, Jianling Bai, Sipeng Shen, Mulong Du, Lihong Huang, Zhibin Hu, Feng Chen
Genome-wide association studies (GWAS) have identified a large amount of single-nucleotide polymorphisms (SNPs) associated with complex traits. A recently developed linear mixed model for estimating heritability by simultaneously fitting all SNPs suggests that common variants can explain a substantial fraction of heritability, which hints at the low power of single variant analysis typically used in GWAS. Consequently, many multi-locus shrinkage models have been proposed under a Bayesian framework. However, most use Markov Chain Monte Carlo (MCMC) algorithm, which are time-consuming and challenging to apply to GWAS data...
May 22, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28532787/evolution-of-avian-encephalomyelitis-virus-during-embryo-adaptation
#8
Rüdiger Hauck, C Gabriel Sentíes-Cué, Ying Wang, Colin Kern, H L Shivaprasad, Huaijun Zhou, Rodrigo A Gallardo
Wild-type avian encephalomyelitis virus (AEV) causes neurological signs in young chicks but no disease in pullets after oral or intracutaneous infection. However, if the virus gets embryo-adapted by serial passaging in chicken embryos, it will cause AE after intracutaneous infection in chickens of all ages. Recently, several cases of AE in layer pullets occurring shortly after intracutaneous vaccination were described. The present investigation was initiated to determine if vaccines that had inadvertently been embryo-adapted were responsible for these outbreaks...
May 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/28532626/single-nucleotide-polymorphisms-of-abcc2-modulate-renal-secretion-of-endogenous-organic-anions
#9
Kienana Muhrez, Bérenger Largeau, Patrick Emond, Montigny Frédéric, Jean-Michel Halimi, Patrick Trouillas, Chantal Barin-LE Guellec
The ATP-binding cassette family transporter MRP2 (multidrug resistance-associated protein 2), encoded by the ABCC2 gene, is involved in the renal excretion of numerous xenobiotics and it is likely that it also transports many endogenous molecules arising from not only normal essential metabolic processes but also from environmental toxins or food intake. We used a targeted gas chromatography-mass spectrometry metabolomics analysis to study whether endogenous organic anions are differentially excreted in urines of healthy volunteers according to their genotype for three functional single nucleotide polymorphisms (SNPs) in ABCC2...
May 19, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28531104/stumbling-across-the-same-phage-comparative-genomics-of-widespread-temperate-phages-infecting-the-fish-pathogen-vibrio-anguillarum
#10
Panos G Kalatzis, Nanna Iben Rørbo, Daniel Castillo, Jesper Juel Mauritzen, Jóhanna Jørgensen, Constantina Kokkari, Faxing Zhang, Pantelis Katharios, Mathias Middelboe
Nineteen Vibrio anguillarum-specific temperate bacteriophages isolated across Europe and Chile from aquaculture and environmental sites were genome sequenced and analyzed for host range, morphology and life cycle characteristics. The phages were classified as Siphoviridae with genome sizes between 46,006 and 54,201 bp. All 19 phages showed high genetic similarity, and 13 phages were genetically identical. Apart from sporadically distributed single nucleotide polymorphisms (SNPs), genetic diversifications were located in three variable regions (VR1, VR2 and VR3) in six of the phage genomes...
May 20, 2017: Viruses
https://www.readbyqxmd.com/read/28530680/the-effect-of-glucose-dependent-insulinotropic-polypeptide-gip-variants-on-visceral-fat-accumulation-in-han-chinese-populations
#11
T Wang, X Ma, T Tang, K Higuchi, D Peng, R Zhang, M Chen, J Yan, S Wang, D Yan, Z He, F Jiang, Y Bao, W Jia, K Ishida, C Hu
OBJECTIVES: We aim to validate the effects of glucose-dependent insulinotropic polypeptide (GIP) on fat distribution and glucose metabolism in Han Chinese populations. METHODS: We genotyped six tag single-nucleotide polymorphisms (SNPs) of GIP and four tag SNPs of glucose-dependent insulinotropic polypeptide receptor (GIPR) among 2884 community-based individuals from Han Chinese populations. Linear analysis was applied to test the associations of these variants with visceral fat area (VFA) and subcutaneous fat area (SFA) quantified by magnetic resonance imaging as well as glucose-related traits...
May 22, 2017: Nutrition & Diabetes
https://www.readbyqxmd.com/read/28528403/assessing-the-causal-relationship-between-obesity-and-venous-thromboembolism-through-a-mendelian-randomization-study
#12
Sara Lindström, Marine Germain, Marta Crous-Bou, Erin N Smith, Pierre-Emmanuel Morange, Astrid van Hylckama Vlieg, Hugoline G de Haan, Daniel Chasman, Paul Ridker, Jennifer Brody, Mariza de Andrade, John A Heit, Weihong Tang, Immaculata DeVivo, Francine Grodstein, Nicholas L Smith, David Tregouet, Christopher Kabrhel
Observational studies have shown an association between obesity and venous thromboembolism (VTE) but it is not known if observed associations are causal, due to reverse causation or confounding bias. We conducted a Mendelian Randomization study of body mass index (BMI) and VTE. We identified 95 single nucleotide polymorphisms (SNPs) that have been previously associated with BMI and assessed the association between genetically predicted high BMI and VTE leveraging data from a previously conducted GWAS within the INVENT consortium comprising a total of 7507 VTE cases and 52,632 controls of European ancestry...
May 20, 2017: Human Genetics
https://www.readbyqxmd.com/read/28527365/variation-in-the-ovine-myf5-gene-and-its-effect-on-carcass-lean-meat-yield-in-new-zealand-romney-sheep
#13
Jiqing Wang, Huitong Zhou, Rachel H J Forrest, Jiang Hu, Xiu Liu, Shaobin Li, Yuzhu Luo, Jon G H Hickford
Myogenic factor 5 (MYF5) plays an important role in regulating skeletal muscle, but to date there have been no reports on whether the gene is variable and whether this variation is associated with meat yield in sheep. In this study, four variants (A to D) of ovine MYF5 containing two Single Nucleotide Polymorphisms (SNPs) and one basepair (bp) insertion/deletion were detected by Polymerase Chain Reaction - Single Stranded Conformational Polymorphism (PCR-SSCP) analysis. Breed differences in variant frequencies were observed...
May 11, 2017: Meat Science
https://www.readbyqxmd.com/read/28527151/association-of-the-mir-196a2-mir-146a-and-mir-499-polymorphisms-with-asthma-phenotypes-in-a-korean-population
#14
Hoang Kim Tu Trinh, Duy Le Pham, Su-Chin Kim, Ri-Yeon Kim, Hae-Sim Park, Seung-Hyun Kim
BACKGROUND: MicroRNAs (miRNAs) modulate expressions of inflammatory genes, thereby regulating inflammatory responses. Single nucleotide polymorphisms (SNPs) in miRNAs could affect their efficiency in binding to messenger RNAs (mRNAs). OBJECTIVE: We investigated the associations of miRNA SNPs with asthma phenotypes. miR-196a2 (rs11614913 T>C), miR-146a (rs2910164 C>G), and miR-499 (rs3746444 A>G) were genotyped in 347 asthma patients and 172 normal healthy controls (NCs)...
May 19, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28527106/a-trans-acting-factor-may-modify-age-at-onset-in-familial-amyloid-polyneuropathy-attrv30m-in-portugal
#15
Miguel Alves-Ferreira, Teresa Coelho, Diana Santos, Jorge Sequeiros, Isabel Alonso, Alda Sousa, Carolina Lemos
Although all familial amyloid polyneuropathy (FAP) ATTRV30M patients carry the same causative mutation, early (<40) and late-onset forms (≥50 years) of FAP may coexist in the same family. However, this variability in age at onset is still unexplained. To identify modifiers closely linked to the TTR locus that may in part be associated with age at onset of FAP ATTRV30M, in particular in a group of very early-onset patients (≤30 years) when compared with late-onset individuals. A clinical genetic study at a referral center comprising a sample of 910 Portuguese individuals includes 589 Val30Met carriers, 102 spouses, and 189 controls from the general population...
May 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28527015/a-genome-wide-association-study-identifies-the-genomic-region-associated-with-shell-color-in-yesso-scallop-patinopecten-yessoensis
#16
Liang Zhao, Yangping Li, Yajuan Li, Jiachen Yu, Huan Liao, Shuyue Wang, Jia Lv, Jun Liang, Xiaoting Huang, Zhenmin Bao
The shell color polymorphism widely exists in economic shellfish, which not only results in a better visual perception but also shows great value as an economic trait for breeding. Small numbers of reddish-orange shell Yesso scallops, Patinopecten yessoensis, were found in cultured populations compared to the brown majority. In this study, a genome-wide association study was conducted to understand the genetic basis of shell color. Sixty-six 2b-RAD libraries with equal numbers of reddish-orange and brown shell individuals were constructed and sequenced using the Illumina HiSeq 2000 platform...
May 19, 2017: Marine Biotechnology
https://www.readbyqxmd.com/read/28526653/genetic-variants-of-interleukin-18-are-associated-with-reduced-risk-of-atrial-fibrillation-in-a-population-from-northeast-china
#17
Ying-Hui Wang, Lin Fu, Bo Wang, Shu-Feng Li, Zhao Sun, Ying Luan
Atrial fibrillation (AF) affects approximately 1-2% of general population. Chronic inflammation plays an important role in AF development and interleukin-18 (IL-18) is a pro-inflammatory cytokine. This study aimed to assess the association of single nucleotide polymorphisms (SNPs) of IL-18 for with AF risk. Blood samples were taken from 243 AF patients and 160 non-AF individuals from a Chinese population and subjected to genotyping for six IL-18 SNPs using the MassArray system. Association of individual SNPs with AF risk was analyzed using SAS version 9...
May 16, 2017: Gene
https://www.readbyqxmd.com/read/28526450/the-association-of-single-nucleotide-polymorphisms-in-the-oxytocin-receptor-and-g-protein-coupled-receptor-kinase-6-grk6-genes-with-oxytocin-dosing-requirements-and-labor-outcomes
#18
Chad A Grotegut, Emily Ngan, Melanie E Garrett, Marie Lynn Miranda, Allison E Ashley-Koch, Geeta K Swamy
BACKGROUND: Oxytocin is a potent uterotonic agent that is widely used for induction and augmentation of labor. Oxytocin has a narrow therapeutic index and the optimal dosing for any individual woman varies widely. OBJECTIVE: The objective of this study was to determine if genetic variation in the oxytocin receptor (OXTR) or in the gene encoding G protein-coupled receptor kinase 6 (GRK6), which regulates desensitization of the OXTR, could explain variation in oxytocin dosing and labor outcomes among women being induced near term...
May 16, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28525658/genotyping-of-snps-associated-with-meat-tenderness-comparison-of-two-pcr-based-methods
#19
L E López-Rojas, L Patiño-Cadavid, A López-Herrera, J J Echeverri-Zuluaga
Single nucleotide polymorphisms (SNPs) carried in calpain (CAPN1), calpastatin (CAST), and leptin (LEP) genes are associated with meat tenderness. Due to the economic importance of this meat quality attribute, the development of fast, reliable, and affordable methods to identify bovine carriers of favorable alleles is of great importance for genetic improvement. Currently, PCR-RFLP is accepted as the standard gold method for genotyping SNPs associated with meat tenderness. But these SNPs can be detected by other techniques as high-resolution melting (HRM) analysis - a post-PCR method - that offers several advantages and has great application potential in the meat industry...
May 18, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28525351/association-study-of-lin28b-in-girls-with-precocious-puberty
#20
Yen-Chun Chen, Li-Min Chen, Hung-Hsun Lin, Bai-Hsiun Chen, Mei-Chyn Chao, Hui-Pin Hsiao
BACKGROUND: Central precocious puberty (CPP), predominant in girls, is defined by early development of secondary sexual characteristics driven by the early secretion of hypothalamic gonadotropin releasing hormone (GnRH) and subsequent gonadotropin. Recent studies have shown variation in the LIN28B gene is associated with timing of puberty, but only a few have show it to be associated with CPP. METHODS: This study attempted to investigate the relation between single-nucleotide polymorphisms (SNPs) in LIN28B and girls with precocious puberty...
May 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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