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Single nucleotide polymorphism

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https://www.readbyqxmd.com/read/28231306/effects-of-adamts14-genetic-polymorphism-and-cigarette-smoking-on-the-clinicopathologic-development-of-hepatocellular-carcinoma
#1
Ming-Jen Sheu, Ming-Ju Hsieh, Ying-Erh Chou, Po-Hui Wang, Chao-Bin Yeh, Shun-Fa Yang, Hsiang-Lin Lee, Yu-Fan Liu
BACKGROUND: ADAMTS14 is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs), which are proteolytic enzymes with a variety of further ancillary domain in the C-terminal region for substrate specificity and enzyme localization via extracellular matrix association. However, whether ADAMTS14 genetic variants play a role in hepatocellular carcinoma (HCC) susceptibility remains unknown. METHODOLOGY/PRINCIPAL FINDINGS: Four non-synonymous single-nucleotide polymorphisms (nsSNPs) of the ADAMTS14 gene were examined from 680 controls and 340 patients with HCC...
2017: PloS One
https://www.readbyqxmd.com/read/28231280/alkbh7-variant-related-to-prostate-cancer-exhibits-altered-substrate-binding
#2
Alice R Walker, Pavel Silvestrov, Tina A Müller, Robert H Podolsky, Gregory Dyson, Robert P Hausinger, Gerardo Andrés Cisneros
The search for prostate cancer biomarkers has received increased attention and several DNA repair related enzymes have been linked to this dysfunction. Here we report a targeted search for single nucleotide polymorphisms (SNPs) and functional impact characterization of human ALKBH family dioxygenases related to prostate cancer. Our results uncovered a SNP of ALKBH7, rs7540, which is associated with prostate cancer disease in a statistically significantly manner in two separate cohorts, and maintained in African American men...
February 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28231233/association-of-topoisomerase-ii-top2a-and-dual-specificity-phosphatase-6-dusp6-single-nucleotide-polymorphisms-with-radiation-treatment-response-and-prognosis-of-lung-cancer-in-han-chinese
#3
Tian-Lu Wang, Yang-Wu Ren, He-Tong Wang, Hong Yu, Yu-Xia Zhao
BACKGROUND Mutations of DNA topoisomerase II (TOP2A) are associated with chemotherapy resistance, whereas dual-specificity phosphatase 6 (DUSP6) negatively regulates members of the mitogen-activated protein (MAP) kinase superfamily to control cell proliferation. This study assessed TOP2A and DUSP6 single nucleotide polymorphisms (SNPs) in non-small cell lung cancer (NSCLC) patients for association with chemoradiotherapy responses and prognosis. MATERIAL AND METHODS A total of 140 Chinese patients with histologically confirmed NSCLC were enrolled and subjected to genotyping of TOP2A rs471692 and DUSP6 rs2279574 using Taqman PCR...
February 23, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28231077/association-of-genetic-variation-in-the-tachykinin-receptor-3-locus-with-hot-flashes-and-night-sweats-in-the-women-s-health-initiative-study
#4
Carolyn J Crandall, JoAnn E Manson, Chancellor Hohensee, Steve Horvath, Jean Wactawski-Wende, Erin S LeBlanc, Mara Z Vitolins, Rami Nassir, Janet S Sinsheimer
OBJECTIVE: Vasomotor symptoms (VMS, ie, hot flashes or night sweats) are reported by many, but not all, women. The extent to which VMS are genetically determined is unknown. We evaluated the relationship of genetic variation and VMS. METHODS: In this observational study, we accessed data from three genome-wide association studies (GWAS) (SNP Health Association Resource cohort [SHARe], WHI Memory Study cohort [WHIMS+], and Genome-Wide Association Studies of Treatment Response in Randomized Clinical Trials [GARNET] studies, total n = 17,695) of European American, African American, and Hispanic American postmenopausal women aged 50 to 79 years at baseline in the Women's Health Initiative Study...
March 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/28230820/the-distribution-of-tp53-gene-polymorphisms-in-chronic-lymphocytic-leukemia-patients-sufferers-of-chornobyl-nuclear-power-plant-accident
#5
N I Bilous, I V Abramenko, A A Chumak, I S Dyagil, Z V Martina
: Previous analyses in a cohort of Chornobyl cleanup workers revealed significantly increased radiation-related risk for all leukemia types, including chronic lymphocytic leukemia (CLL). Numerous investigations emphasized the significance of genetic susceptibility to the radiation carcinogenesis. The aim of the work was to study the distribution of TP53 single nucleotide polymorphisms (SNPs) in CLL patients exposed to ionizing radiation (IR) due to Chornobyl nuclear power plant accident and estimate their impact on disease development...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28230734/deep%C3%A2-transcriptome%C3%A2-sequencing%C3%A2-of%C3%A2-two%C3%A2-green%C3%A2-algae-chara%C3%A2-vulgaris%C3%A2-and%C3%A2-chlamydomonas%C3%A2-reinhardtii-%C3%A2-provides%C3%A2-no%C3%A2-evidence%C3%A2-of%C3%A2-organellar%C3%A2-rna%C3%A2-editing
#6
A Bruce Cahoon, John A Nauss, Conner D Stanley, Ali Qureshi
Nearly all land plants post-transcriptionally modify specific nucleotides within RNAs, a process known as RNA editing. This adaptation allows the correction of deleterious mutations within the asexually reproducing and presumably non-recombinant chloroplast and mitochondrial genomes. There are no reports of RNA editing in any of the green algae so this phenomenon is presumed to have originated in embryophytes either after the invasion of land or in the now extinct algal ancestor of all land plants. This was challenged when a recent in silico screen for RNA edit sites based on genomic sequence homology predicted edit sites in the green alga Chara vulgaris, a multicellular alga found within the Streptophyta clade and one of the closest extant algal relatives of land plants...
February 20, 2017: Genes
https://www.readbyqxmd.com/read/28230599/a-targeted-next-generation-genetic-sequencing-study-on-tetralogy-of-fallot-combined-with-cleft-lip-and-palate
#7
Lin Liu, Haisong Bu, Yifeng Yang, Zhiping Tan, Fei Zhang, Shijun Hu, Tianli Zhao
BACKGROUND: Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS: The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28229900/interleukin-6-572c-g-polymorphism-is-associated-with-serum-interleukin-6-levels-and-risk-of-idiopathic-pulmonary-arterial-hypertension
#8
Ming Fang, Yueye Huang, Yuan Zhang, Zhongping Ning, Luoning Zhu, Xinming Li
Interleukin 6 (IL-6) is a multifunctional proinflammatory cytokine that is elevated in patients with pulmonary arterial hypertension (PAH). Single nucleotide polymorphisms in the promoter region of IL-6 have been reported to transcriptional regulate the expression of IL-6. The aim of the present study is to investigate the roles of two common polymorphisms (-572C/G [rs1800796] and -6331T/C [rs10499563]) of IL-6 in idiopathic PAH (IPAH). A total of 338 IPAH patients and 352 age- and gender-matched healthy controls were enrolled...
February 3, 2017: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/28229505/a-variant-in-a-cis-regulatory-element-enhances-claudin-14-expression-and-is-associated-with-pediatric-onset-hypercalciuria-and-kidney-stones
#9
Megan E Ure, Emma Heydari, Wanling Pan, Ajay Ramesh, Sabah Rehman, Catherine Morgan, Maury Pinsk, Robin Erickson, Johannes M Herrmann, Henrik Dimke, Emmanuelle Cordat, Mathieu Lemaire, Michael Walter, R Todd Alexander
The greatest risk factor for kidney stones is hypercalciuria, the etiology of which is largely unknown. A recent genome-wide association study (GWAS) linked hypercalciuria and kidney stones to a claudin-14 (CLDN14) risk haplotype. However, the underlying molecular mechanism was not delineated. Recently, renal CLDN14 expression was found to increase in response to increased plasma calcium, thereby inducing calciuria. We hypothesized therefore that some children with hypercalciuria and kidney stones harbor a CLDN14 variant that inappropriately increases gene expression...
February 22, 2017: Human Mutation
https://www.readbyqxmd.com/read/28229460/phenome-wide-association-studies-a-new-method-for-functional-genomics-in-humans
#10
Dan M Roden
In experimental physiology research, a common study design for examining the functional role of a gene or a genetic variant is to introduce that genetic variant into a model organism (such as yeast or mouse) and then to search for phenotypic consequences. The development of DNA biobanks linked to dense phenotypic information enables such an experiment to be applied to human subjects in form of a phenome-wide association study (PheWAS). The PheWAS paradigm takes advantage of a curated medical phenome, often derived from electronic health records, to search for associations between "input functions" and phenotypes in an unbiased fashion...
February 23, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28229454/analysis-of-a-fully-penetrant-spinocerebellar-ataxia-type-8-brazilian-family
#11
V P Cintra, C M Lourenço, M M V Rocha, P J Tomaselli, W Marques
Spinocerebellar ataxia type 8 (SCA8) is a progressive neurological disorder caused by the expanded repeat CTA/CTG of two overlapping genes, ATXN8OS and ATXN8, expressed bidirectionally. Normal alleles have 15-50 repeats, and pathogenic alleles range from 71 to 1300 repeats. The disorder is relatively rare, accounting for about 2%-5% of the autosomal dominant forms of hereditary ataxia worldwide. However, the prevalence of disease-causing ATXN8OS/ATXN8 expansions is higher than the disease because of the reduced penetrance of the expanded allele...
February 22, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28229296/increased-expression-of-il12b-mrna-transcribed-from-the-risk-haplotype-for-crohn-s-disease-is-a-risk-factor-for-disease-relapse-in-japanese-patients
#12
Yoichi Kakuta, Tomoya Kimura, Kenichi Negoro, Masatake Kuroha, Hisashi Shiga, Katsuya Endo, Yoshitaka Kinouchi, Tooru Shimosegawa
BACKGROUND: IL12B is a promising candidate for a susceptibility gene in Crohn's disease (CD). The aim of this study was to perform a candidate gene analysis of IL12B in Japanese CD patients, investigate whether the genotype is associated with disease phenotypes, and determine how the risk allele affects susceptibility to CD. METHODS: Three hundred seventy-five patients with CD, 265 patients with ulcerative colitis, and 463 healthy controls were examined. Ten single-nucleotide polymorphisms (SNPs) around IL12B were genotyped...
February 22, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/28228936/genetic-basis-of-benzimidazole-resistance-in-teladorsagia-circumcincta-in-ireland
#13
Jason D Keegan, Barbara Good, Theo de Waal, June Fanning, Orla M Keane
Resistance to benzimidazole (BZ) anthelmintics is common in ovine nematodes of economic importance. Single nucleotide polymorphisms (SNP) at three positions in the isotype 1 β- tubulin gene have been associated with BZ resistance and molecular tests for the detection of BZ resistance have been developed. In order to determine if such tests are practicable in Ireland the polymorphisms associated with BZ resistance must be identified. To this end, BZ-resistant nematodes were recovered from four farms in Ireland...
2017: Irish Veterinary Journal
https://www.readbyqxmd.com/read/28228768/genome-wide-single-nucleotide-polymorphisms-in-cms-and-restorer-lines-discovered-by-genotyping-using-sequencing-and-association-with-marker-combining-ability-for-12-yield-related-traits-in-oryza-sativa-l-subsp-japonica
#14
Imdad U Zaid, Weijie Tang, Erbao Liu, Sana U Khan, Hui Wang, Edzesi W Mawuli, Delin Hong
Heterosis or hybrid vigor is closely related with general combing ability (GCA) of parents and special combining ability (SCA) of combinations. The evaluation of GCA and SCA facilitate selection of parents and combinations in heterosis breeding. In order to improve combining ability (CA) by molecular marker assist selection, it is necessary to identify marker loci associated with the CA. To identify the single nucleotide polymorphisms (SNP) loci associated with CA in the parental genomes of japonica rice, genome-wide discovered SNP loci were tested for association with the CA of 18 parents for 12 yield-related traits...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28225862/association-between-c1q-gene-polymorphisms-and-autoimmune-thyroid-diseases
#15
Qiuming Yao, Jie Li, Xiaofei An, Wenjuan Jiang, Qiu Qin, Ronghua Song, Ni Yan, Danfeng Li, Yanfei Jiang, Wen Wang, Liangfeng Shi, Jin-An Zhang
Objective: In the present study, we aimed to assess the associations of C1q gene polymorphisms with autoimmune thyroid diseases (AITD) susceptibility. Subjects and methods: A set of 1,003 AITD patients (661 with Graves' disease and 342 with Hashimoto's thyroiditis) and 880 ethnically- and geographically-matched controls from Chinese Han population were included. Five common single nucleotide polymorphisms (SNPs) (rs294185, rs292001, rs682658, rs665691 and rs294179) in C1q gene locus were genotyped...
February 16, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28225792/the-adamts9-gene-is-associated-with-cognitive-aging-in-the-elderly-in-a-taiwanese-population
#16
Eugene Lin, Shih-Jen Tsai, Po-Hsiu Kuo, Yu-Li Liu, Albert C Yang, Chung-Feng Kao, Cheng-Hung Yang
Evidence indicates that the pathophysiologic mechanisms associated with insulin resistance may contribute to cognitive aging and Alzheimer's diseases. In this study, we hypothesize that single nucleotide polymorphisms (SNPs) within insulin resistance-associated genes, such as the ADAM metallopeptidase with thrombospondin type 1 motif 9 (ADAMTS9), glucokinase regulator (GCKR), and peroxisome proliferator activated receptor gamma (PPARG) genes, may be linked with cognitive aging independently and/or through complex interactions in an older Taiwanese population...
2017: PloS One
https://www.readbyqxmd.com/read/28225778/gnb3-and-creb1-gene-polymorphisms-combined-with-negative-life-events-increase-susceptibility-to-major-depression-in-a-chinese-han-population
#17
Jingsong Ma, Lin Wang, Yanjie Yang, Zhengxue Qiao, Deyu Fang, Xiaohui Qiu, Xiuxian Yang, Xiongzhao Zhu, Jincai He, Hui Pan, Bo Ban, Yan Zhao, Hong Sui
BACKGROUND: Major depression (MD) is caused by a combination of genetic and environmental factors. In this study we investigated the interaction of variations in the G-protein beta 3 subunit (GNB3) and cAMP response element binding protein 1 (CREB1) genes with negative life events in the pathogenesis of MD. One GNB3 polymorphism (rs5443) and four CREB1 polymorphisms (rs2253206, rs2551941, rs6740584, rs11904814) were investigated based on known associations with MD. METHODS: 512 patients with MD and 513 control subjects were genotyped...
2017: PloS One
https://www.readbyqxmd.com/read/28225484/association-between-erbb4-single-nucleotide-polymorphisms-and-susceptibility-to-schizophrenia-a-meta-analysis-of-case-control-studies
#18
Yanguo Feng, Dejun Cheng, Chaofeng Zhang, Yuchun Li, Zhiying Zhang, Juan Wang, Xiao Feng
BACKGROUND: Accumulating studies have reported inconsistent association between ErbB4 single nucleotide polymorphisms (SNPs) and predisposition to schizophrenia. To better interpret this issue, here we conducted a meta-analysis using published case-control studies. METHODS: We conducted a systematic search of MEDLINE (Pubmed), Embase (Ovid), Web of Science (Thomson-Reuters) to identify relevant references. The association between ErbB4 SNPs and schizophrenia was assessed by odds ratios (ORs) and 95% confidence intervals (CIs)...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28225367/progranulin-gene-variation-affects-serum-progranulin-levels-differently-in-danish-bipolar-individuals-compared-with-healthy-controls
#19
Henriette N Buttenschøn, Marit N Nielsen, Gangadaar Thotakura, Chris W Lee, Anders Nykjær, Ole Mors, Simon Glerup
OBJECTIVES: The identification of peripheral biomarkers for bipolar disorder is of great importance and has the potential to improve diagnosis, treatment and prognosis. Recent studies have reported lower plasma progranulin levels in bipolar individuals compared with controls and association with single nucleotide polymorphisms (SNPs) within the progranulin gene (GRN). In the present study, we investigated the effect of GRN and sortilin (SORT1) gene variation on serum progranulin levels in bipolar individuals and controls...
February 20, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28225258/nanoparticle-based-discrimination-of-single-nucleotide-polymorphism-in-long-dna-sequences
#20
Maria Sanroman-Iglesias, Charles Lawrie, Luis M Liz-Marzán, Marek Grzelczak
Circulating DNA (ctDNA) and specifically the detection cancer-associated mutations in liquid biopsies promises to revolutionize cancer detection. The main difficulty however is that the length of typical ctDNA fragments (~150 bases) can form secondary structures potentially obscuring the mutated fragment from detection. We show that an assay based on gold nanoparticles (65 nm) stabilized with DNA (Au@DNA) can discriminate single nucleotide polymorphism in clinically-relevant DNA sequences (70-140 bases). The preincubation step was crucial to this process, allowing sequential bridging of Au@DNA, so that single base mutation can be discriminated, down to 100 pM concentration...
February 22, 2017: Bioconjugate Chemistry
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