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https://www.readbyqxmd.com/read/28636552/meta-analysis-of-the-association-between-three-microrna-polymorphisms-and-breast-cancer-susceptibility
#1
Kun Mu, Zi-Zheng Wu, Jin-Pu Yu, Wei Guo, Nan Wu, Li-Juan Wei, Huan Zhang, Jing Zhao, Jun-Tian Liu
Single nucleotide polymorphisms (SNPs) in three microRNAs (miRNAs), rs2910164 in miR-146a, rs11614913 in miR-196a2, and rs3746444 in miR-499, have been associated with breast cancer (BC) susceptibility, but the evidence is conflicting. To obtain a more robust assessment of the association between these miRNA variants and BC risk, we carried out a meta-analysis through systematic literature retrieval from the PubMed and Embase databases. A total of 9 case-control studies on rs2910164, 12 on rs11614913, and 7 on rs3746444 were included...
June 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28633917/polymorphic-variants-of-caspase-genes-8-3-in-the-risk-prediction-of-coronary-artery-disease
#2
Kishore Kumar Gundapaneni, Nivas Shyamala, Rajesh Kumar Galimudi, Keerthi Kupsal, Srilatha Reddy Gantala, Chiranjeevi Padala, Padma Gunda, Mohini Aiyengar Tupurani, Kaushik Puranam, Sanjib Kumar Sahu, Surekha Rani Hanumanth
Apoptosis has been involved in a number of pathological conditions including coronary artery disease (CAD). Caspases (CASP) are important regulators and executioners in both extrinsic and intrinsic apoptotic pathways and play a crucial role in the development and progression of CAD. The aim of the present study is to examine the role of Caspase 8 and 3 polymorphisms in the pathogenesis of CAD. 300 CAD patients and 300 healthy controls were genotyped for polymorphisms in CASP8 (-652 6N del/ins, IVS12-19G>A), CASP3 (rs4647601;G>T) by PCR-RFLP...
June 17, 2017: Gene
https://www.readbyqxmd.com/read/28633642/prediction-and-analysis-of-three-gene-families-related-to-leaf-rust-puccinia-triticina-resistance-in-wheat-triticum-aestivum-l
#3
Fred Y Peng, Rong-Cai Yang
BACKGROUND: The resistance to leaf rust (Lr) caused by Puccinia triticina in wheat (Triticum aestivum L.) has been well studied over the past decades with over 70 Lr genes being mapped on different chromosomes and numerous QTLs (quantitative trait loci) being detected or mapped using DNA markers. Such resistance is often divided into race-specific and race-nonspecific resistance. The race-nonspecific resistance can be further divided into resistance to most or all races of the same pathogen and resistance to multiple pathogens...
June 20, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28629322/construction-of-high-density-genetic-map-and-qtl-mapping-of-yield-related-and-two-quality-traits-in-soybean-rils-population-by-rad-sequencing
#4
Nianxi Liu, Mu Li, Xiangbao Hu, Qibin Ma, Yinghui Mu, Zhiyuan Tan, Qiuju Xia, Gengyun Zhang, Hai Nian
BACKGROUND: One of the overarching goals of soybean breeding is to develop lines that combine increased yield with improved quality characteristics. High-density-marker QTL mapping can serve as an effective strategy to identify novel genomic information to facilitate crop improvement. In this study, we genotyped a recombinant inbred line (RIL) population (Zhonghuang 24 × Huaxia 3) using a restriction-site associated DNA sequencing (RAD-seq) approach. A high-density soybean genetic map was constructed and used to identify several QTLs that were shown to influence six yield-related and two quality traits...
June 19, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28628859/structural-and-functional-effects-of-nucleotide-variation-on-the-human-tb-drug-metabolizing-enzyme-arylamine-n-acetyltransferase-1
#5
Ruben Cloete, Wisdom A Akurugu, Cedric J Werely, Paul D van Helden, Alan Christoffels
The human arylamine N-acetyltransferase 1 (NAT1) enzyme plays a vital role in determining the duration of action of amine-containing drugs such as para-aminobenzoic acid (PABA) by influencing the balance between detoxification and metabolic activation of these drugs. Recently, four novel single nucleotide polymorphisms (SNPs) were identified within a South African mixed ancestry population. Modeling the effects of these SNPs within the structural protein was done to assess possible structure and function changes in the enzyme...
June 10, 2017: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/28628559/the-mir-1206-microrna-variant-is-associated-with-methotrexate-induced-oral-mucositis-in-pediatric-acute-lymphoblastic-leukemia
#6
Angela Gutierrez-Camino, Natanja Oosterom, Marissa A H den Hoed, Elixabet Lopez-Lopez, Idoia Martin-Guerrero, Saskia M F Pluijm, Rob Pieters, Robert de Jonge, Wim J E Tissing, Sandra G Heil, Africa García-Orad, Marry M van den Heuvel-Eibrink
Five-year survival rates of pediatric acute lymphoblastic leukemia (ALL) have reached 90% in the developed countries. However, toxicity because of methotrexate (MTX) occurs frequently. Variety in the occurrence of toxicity is partly determined by single nucleotide polymorphisms (SNPs) in coding regions. Recently, five SNPs in non-coding pre-microRNAs and microRNA processing (miRNA) genes were identified in association with MTX-induced oral mucositis. This study aimed to replicate the association of these miRNA variants in relation to MTX-induced oral mucositis in a prospective childhood ALL cohort...
June 16, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28624844/the-effect-of-endoscopic-sinus-surgery-on-quality-of-life-and-absenteeism-in-patients-with-chronic-rhinosinuitis-a-multi-centre-study
#7
P Sahlstrand-Johnson, C Hopkins, B Ohlsson, M Ahlner-Elmqvist
BACKGROUND: Chronic rhinosinusitis with and without nasal polyps (CRSw/sNP) are common conditions decreasing health-related quality of life (HRQOL). Individual symptoms capable of predicting outcome after endoscopic sinus surgery (ESS) are poorly defined, and the indirect costs of CRS is rarely reported in Europe. METHODOLOGY: Patients with CRSw/sNP admitted for ESS were prospectively enrolled. Patients completed the 22 Sinonasal Outcome Test (SNOT-22), the short-form 36-item questionnaire (SF-36), a Visual Analogue Scale (VAS) and reported CRS-related absenteeism pre- and post-operatively...
June 18, 2017: Rhinology
https://www.readbyqxmd.com/read/28624195/fluorinated-nucleotide-modifications-modulate-allele-selectivity-of-snp-targeting-antisense-oligonucleotides
#8
Michael E Østergaard, Josh Nichols, Timothy A Dwight, Walt Lima, Michael E Jung, Eric E Swayze, Punit P Seth
Antisense oligonucleotides (ASOs) have the potential to discriminate between subtle RNA mismatches such as SNPs. Certain mismatches, however, allow ASOs to bind at physiological conditions and result in RNA cleavage mediated by RNase H. We showed that replacing DNA nucleotides in the gap region of an ASO with other chemical modification can improve allele selectivity. Herein, we systematically substitute every position in the gap region of an ASO targeting huntingtin gene (HTT) with fluorinated nucleotides...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28622951/population-approach-to-efavirenz-therapy
#9
Hélder Duarte, João Paulo Cruz, Natália Aniceto, Ana Clara Ribeiro, Ana Fernandes, Paulo Paixão, Francisco Antunes, José Morais
Efavirenz (EFV) is a non-nucleoside reverse transcriptase inhibitor commonly used as first line therapy in the treatment of human immunodeficiency virus, with a narrow therapeutic range and a high between-subject variability which can lead to central nervous system toxicity or therapeutic failure. To characterize the sources of variability and better predict EFV steady state plasma concentrations, a population pharmacokinetic model was developed form 96 HIV positive individuals, using a nonlinear mixed effect method with Monolix® software...
June 13, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28622062/novel-zinc-finger-protein-gene-469-znf469-variants-in-advanced-keratoconus
#10
Elvin Yildiz, Handan Bardak, Murat Gunay, Yavuz Bardak, Serhat Imamoglu, Halil Ozbas, Ozkan Bagci
PURPOSE: Common polymorphic variants upstream of Zinc finger protein gene 469 (ZNF469) have been associated with central corneal thickness. Rare ZNF469 variants have been shown in keratoconus patients. The aim of the current study was to investigate the frequency of ZNF 469 gene variants in rapidly progressive advance keratoconus patients who underwent corneal transplant surgery by the age of 30, compared to their frequency in the normal Turkish population. METHODS: A search in a patient database was performed to identify patients with a rapidly progressive keratoconus requiring corneal transplant surgery by the age of 30 in at least one eye...
June 16, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28620303/effect-of-genetic-variability-in-the-cyp4f2-cyp4f11-and-cyp4f12-genes-on-liver-mrna-levels-and-warfarin-response
#11
J E Zhang, Kathrin Klein, Andrea L Jorgensen, Ben Francis, Ana Alfirevic, Stephane Bourgeois, Panagiotis Deloukas, Ulrich M Zanger, Munir Pirmohamed
Genetic polymorphisms in the gene encoding cytochrome P450 (CYP) 4F2, a vitamin K oxidase, affect stable warfarin dose requirements and time to therapeutic INR. CYP4F2 is part of the CYP4F gene cluster, which is highly polymorphic and exhibits a high degree of linkage disequilibrium, making it difficult to define causal variants. Our objective was to examine the effect of genetic variability in the CYP4F gene cluster on expression of the individual CYP4F genes and warfarin response. mRNA levels of the CYP4F gene cluster were quantified in human liver samples (n = 149) obtained from a well-characterized liver bank and fine mapping of the CYP4F gene cluster encompassing CYP4F2, CYP4F11, and CYP4F12 was performed...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28620139/predictive-single-nucleotide-polymorphism-markers-for-acute-oral-mucositis-in-patients-with-nasopharyngeal-carcinoma-treated-with-radiotherapy
#12
Ziyu Le, Xiaoshuang Niu, Ying Chen, Xiaomin Ou, Guoqi Zhao, Qi Liu, Wenzhi Tu, Chaosu Hu, Lin Kong, Yong Liu
The aim of this study was to investigate the association between the susceptibility of severe oral mucositis (OM) in Chinese nasopharyngeal carcinoma (NPC) patients treated with radiotherapy and single nucleotide polymorphisms (SNPs) across the whole genome. SNPs were screened in a total of 24 patients with NPC and an additional 6 were subjected to mRNA expression analysis. Patients were subdivided into CTC 0-2 (CTC toxicity grade 0, 1, and 2) and CTC 3+ (CTC toxicity grade 3 and above) groups according to their CTC (common toxicity criteria) scores...
June 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/28620070/prediction-of-adult-dyslipidemia-using-genetic-and-childhood-clinical-risk-factors-the-cardiovascular-risk-in-young-finns-study
#13
Joel Nuotio, Niina Pitkänen, Costan G Magnussen, Marie-Jeanne Buscot, Mikko S Venäläinen, Laura L Elo, Eero Jokinen, Tomi Laitinen, Leena Taittonen, Nina Hutri-Kähönen, Leo-Pekka Lyytikäinen, Terho Lehtimäki, Jorma S Viikari, Markus Juonala, Olli T Raitakari
BACKGROUND: Dyslipidemia is a major modifiable risk factor for cardiovascular disease. We examined whether the addition of novel single-nucleotide polymorphisms for blood lipid levels enhances the prediction of adult dyslipidemia in comparison to childhood lipid measures. METHODS AND RESULTS: Two thousand four hundred and twenty-two participants of the Cardiovascular Risk in Young Finns Study who had participated in 2 surveys held during childhood (in 1980 when aged 3-18 years and in 1986) and at least once in a follow-up study in adulthood (2001, 2007, and 2011) were included...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28620069/prediction-of-adulthood-obesity-using-genetic-and-childhood-clinical-risk-factors-in-the-cardiovascular-risk-in-young-finns-study
#14
Fatemeh Seyednasrollah, Johanna Mäkelä, Niina Pitkänen, Markus Juonala, Nina Hutri-Kähönen, Terho Lehtimäki, Jorma Viikari, Tanika Kelly, Changwei Li, Lydia Bazzano, Laura L Elo, Olli T Raitakari
BACKGROUND: Obesity is a known risk factor for cardiovascular disease. Early prediction of obesity is essential for prevention. The aim of this study is to assess the use of childhood clinical factors and the genetic risk factors in predicting adulthood obesity using machine learning methods. METHODS AND RESULTS: A total of 2262 participants from the Cardiovascular Risk in YFS (Young Finns Study) were followed up from childhood (age 3-18 years) to adulthood for 31 years...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28619006/tag-snp-selection-for-prediction-of-tick-resistance-in-brazilian-braford-and-hereford-cattle-breeds-using-bayesian-methods
#15
Bruna P Sollero, Vinícius S Junqueira, Cláudia C G Gomes, Alexandre R Caetano, Fernando F Cardoso
BACKGROUND: Cattle resistance to ticks is known to be under genetic control with a complex biological mechanism within and among breeds. Our aim was to identify genomic segments and tag single nucleotide polymorphisms (SNPs) associated with tick-resistance in Hereford and Braford cattle. The predictive performance of a very low-density tag SNP panel was estimated and compared with results obtained with a 50 K SNP dataset. RESULTS: BayesB (π = 0.99) was initially applied in a genome-wide association study (GWAS) for this complex trait by using deregressed estimated breeding values for tick counts and 41,045 SNP genotypes from 3455 animals raised in southern Brazil...
June 15, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28618396/vitamin-d-receptor-binding-site-variants-affect-prostate-cancer-progression
#16
Victor C Lin, Shu-Pin Huang, Huei-Ju Ting, Wen-Lung Ma, Chia-Cheng Yu, Chao-Yuan Huang, Hsin-Ling Yin, Tsung-Yi Huang, Cheng-Hsueh Lee, Ta-Yuan Chang, Te-Ling Lu, Bo-Ying Bao
Vitamin D is an important modulator of cellular proliferation through the vitamin D receptor (VDR) that binds to DNA in the regulatory sequences of target genes. We hypothesized that single nucleotide polymorphisms (SNPs) in VDR-binding sites might affect target gene expression and influence the progression of prostate cancer. Using a genome-wide prediction database, 62 SNPs in VDR-binding sites were selected for genotyping in 515 prostate cancer patients and the findings were replicated in an independent cohort of 411 patients...
May 26, 2017: Oncotarget
https://www.readbyqxmd.com/read/28618322/multiple-inflammatory-markers-and-15-year-incident-adl-disability-in-admixed-older-adults-the-bambui-epigen-study
#17
Maria Fernanda Lima-Costa, Juliana V M Mambrini, Karen C L Torres, Sérgio V Peixoto, Fabíola B Andrade, Cesar De Oliveira, Eduardo Tarazona-Santos, Andrea Teixeira-Carvalho, Olindo A Martins-Filho
BACKGROUND: The ability of inflammatory markers to predict disability in later life has received growing attention. However, the current evidence came predominantly from Caucasians and the role of genomic ancestry has not been investigated. OBJECTIVE: We investigated the prognostic value of multiple citokynes and chemokines for incident disability in admixed older Brazilians and whether genomic African and Native American ancestry affects the association. DESIGN: Population-based longitudinal study...
June 7, 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/28617847/the-association-between-38-previously-reported-polymorphisms-and-psoriasis-in-a-polish-population-high-predicative-accuracy-of-a-genetic-risk-score-combining-16-loci
#18
Bartłomiej Kisiel, Katarzyna Kisiel, Konrad Szymański, Wojciech Mackiewicz, Ewelina Biało-Wójcicka, Sebastian Uczniak, Anna Fogtman, Roksana Iwanicka-Nowicka, Marta Koblowska, Helena Kossowska, Grzegorz Placha, Maciej Sykulski, Artur Bachta, Witold Tłustochowicz, Rafał Płoski, Andrzej Kaszuba
OBJECTIVES: To confirm the association of previously discovered psoriasis (Ps) risk loci with the disease in a Polish population and to create predictive models based on the combination of these single nucleotide polymorphisms (SNPs). MATERIAL AND METHODS: Thirty-eight SNPs were genotyped in 480 Ps patients and 490 controls. Alleles distributions were compared between patients and controls, as well as between different Ps sub-phenotypes. The genetic risk score (GRS) was calculated to assess the cumulative risk conferred by multiple loci...
2017: PloS One
https://www.readbyqxmd.com/read/28615065/genome-wide-association-study-and-genomic-prediction-for-fatty-acid-composition-in-chinese-simmental-beef-cattle-using-high-density-snp-array
#19
Bo Zhu, Hong Niu, Wengang Zhang, Zezhao Wang, Yonghu Liang, Long Guan, Peng Guo, Yan Chen, Lupei Zhang, Yong Guo, Heming Ni, Xue Gao, Huijiang Gao, Lingyang Xu, Junya Li
BACKGROUND: Fatty acid composition of muscle is an important trait contributing to meat quality. Recently, genome-wide association study (GWAS) has been extensively used to explore the molecular mechanism underlying important traits in cattle. In this study, we performed GWAS using high density SNP array to analyze the association between SNPs and fatty acids and evaluated the accuracy of genomic prediction for fatty acids in Chinese Simmental cattle. RESULTS: Using the BayesB method, we identified 35 and 7 regions in Chinese Simmental cattle that displayed significant associations with individual fatty acids and fatty acid groups, respectively...
June 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28615046/the-association-of-insertions-deletions-indels-and-variable-number-tandem-repeats-vntrs-with-obesity-and-its-related-traits-and-complications
#20
REVIEW
Yee-How Say
BACKGROUND: Despite the fact that insertions/deletions (INDELs) are the second most common type of genetic variations and variable number tandem repeats (VNTRs) represent a large portion of the human genome, they have received far less attention than single nucleotide polymorphisms (SNPs) and larger forms of structural variation like copy number variations (CNVs), especially in genome-wide association studies (GWAS) of complex diseases like polygenic obesity. This is exemplified by the vast amount of review papers on the role of SNPs and CNVs in obesity, its related traits (like anthropometric measurements, biochemical variables, and eating behavior), and its related complications (like hypertension, hypertriglyceridemia, hypercholesterolemia, and insulin resistance-collectively known as metabolic syndrome)...
June 14, 2017: Journal of Physiological Anthropology
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