keyword
MENU ▼
Read by QxMD icon Read
search

SNP

keyword
https://www.readbyqxmd.com/read/28743033/analysis-of-the-genetic-structure-of-the-malay-population-ancestry-informative-marker-snps-in-the-malay-of-peninsular-malaysia
#1
Padillah Yahya, Sarina Sulong, Azian Harun, Hatin Wan Isa, Nur-Shafawati Ab Rajab, Pongsakorn Wangkumhang, Alisa Wilantho, Chumpol Ngamphiw, Sissades Tongsima, Zilfalil Alwi
Malay, the main ethnic group in Peninsular Malaysia, is represented by various sub-ethnic groups such as Melayu Banjar, Melayu Bugis, Melayu Champa, Melayu Java, Melayu Kedah Melayu Kelantan, Melayu Minang and Melayu Patani. Using data retrieved from the MyHVP (Malaysian Human Variome Project) database, a total of 135 individuals from these sub-ethnic groups were profiled using the Affymetrix GeneChip Mapping Xba 50-K single nucleotide polymorphism (SNP) array to identify SNPs that were ancestry-informative markers (AIMs) for Malays of Peninsular Malaysia...
July 14, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28742912/association-of-genetic-variants-related-to-serum-calcium-levels-with-coronary-artery-disease-and-myocardial-infarction
#2
Susanna C Larsson, Stephen Burgess, Karl Michaëlsson
Importance: Serum calcium has been associated with cardiovascular disease in observational studies and evidence from randomized clinical trials indicates that calcium supplementation, which raises serum calcium levels, may increase the risk of cardiovascular events, particularly myocardial infarction. Objective: To evaluate the potential causal association between genetic variants related to elevated serum calcium levels and risk of coronary artery disease (CAD) and myocardial infarction using mendelian randomization...
July 25, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28742400/role-of-different-cd40-polymorphisms-in-graves-disease-and-hashimoto-s-thyroiditis
#3
Dongguo Wang, Jiayu Chen, Huanyuan Zhang, Fangfang Zhang, Linjun Yang, Yonghua Mou
Genome-wide association studies have led to the discovery of several susceptibility genes related to autoimmune thyroid diseases (AITDs). However, controversial results have been reported regarding the role of single-nucleotide polymorphism (SNP) of CD40 in the disease susceptibility. The objective of this study was to identify the relationship of the polymorphisms of three sites of CD40 with the susceptibility to AITD in the Chinese population. We genotyped three polymorphisms of CD40: C/T -1 SNP, 58038T site of the third exon and C64610G site of the ninth exon in 196 GD cases, 121 HT cases and 122 control subjects...
July 25, 2017: Immunological Investigations
https://www.readbyqxmd.com/read/28741902/corneal-confocal-sub-basal-nerve-plexus-evaluation-a-review
#4
REVIEW
Joanna Kokot, Adam Wylęgała, Bogumił Wowra, Łukasz Wójcik, Dariusz Dobrowolski, Edward Wylęgała
The aim of this study was to review the most recent data about corneal sub-basal nerve plexus (SNP) evaluated with the use of corneal confocal microscopy (CCM). For this purpose, an electronic search was conducted based on PubMed and Google Scholar and Web of Science databases from 2008 up to the end of 2016. Ninety-eight articles in English were cited, as well as abstracts in other languages, concerning the morphology and function of corneal SNP in various diseases. Changes in corneal SNP as a result of local treatment were also introduced...
July 25, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28740450/single-nucleotide-polymorphisms-in-genes-macc1-rad18-mmp7-and-sdf-1a-as-prognostic-factors-in-resectable-colorectal-cancer
#5
Matej Horvat, Uros Potocnik, Katja Repnik, Rajko Kavalar, Vesna Zadnik, Stojan Potrc, Borut Stabuc
BACKGROUND: Colorectal cancer (CRC) represents one of the most common malignancies worldwide. Research has indicated that functional gene changes such as single nucleotide polymorphism (SNP) influence carcinogenesis and metastasis and might have an influence on disease relapse. The aim of our study was to evaluate the role of SNPs in selected genes as prognostic markers in resectable CRC. PATIENTS AND METHODS: In total, 163 consecutive patients treated surgically for CRC of stages I, II and III at the University Medical Centre in Maribor in 2007 and 2008 were investigated...
June 2017: Radiology and Oncology
https://www.readbyqxmd.com/read/28739589/association-of-calcium-calmodulin-dependent-protein-kinase-kinase1-rs7214723-polymorphism-with-lung-cancer-risk-in-a-chinese-population
#6
Da Chen, Fangming Zhong, Ye Chen
Calcium/calmodulin-dependent protein kinase kinase1 (CAMKK1) could specially recognize and activate Calcium/calmodulin-dependent protein kinase (CAMK) I and IV. Furthermore, The activation of CAMK showed positively correlation with proliferation of lung cancer (LC). In addition, A genome-wide association study has identified rs7214723 (E375G) in the CAMKK1 gene as a susceptibility locus for LC in the UK population. Therefore, we conducted a case-control study involving 320 LC patients and 320 controls to validate this conclusion in a Chinese population...
July 24, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28739421/whole-genome-sequencing-of-mycobacterium-bovis-to-obtain-molecular-fingerprints-in-human-and-cattle-isolates-from-baja-california-mexico
#7
Sarai Estrella Sandoval-Azuara, Ricardo Perea-Jacobo, Raquel Muñiz-Salazar, Suelee Robbe-Austerman, Alejandro Perera-Ortiz, Gilberto López-Valencia, Doris M Bravo, Alejandro Sanchez-Flores, Daniela Miranda-Guzmán, Carlos Alberto Flores-López, Roberto Zenteno-Cuevas, Rafael Laniado-Laborín, Fabiola Lafarga de la Cruz, Tod P Stuber
OBJECTIVES: To determine genetic diversity by comparing the whole genome sequences of M. bovis cattle and human isolates from Baja California. METHODS: We used a whole genome sequencing strategy to obtain the molecular fingerprints of 172 isolates of Mycobacterium bovis from Baja California, Mexico, of which 155 were isolated from cattle, and 17 were isolated from humans. We characterized spoligotypes in silico and evaluated single nucleotide polymorphism (SNP) differences between the isolates...
July 21, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28739396/genetic-association-of-pro-inflammatory-cytokine-gene-polymorphisms-with-coronary-artery-disease-cad-in-a-north-indian-population
#8
Sarabjit Mastana, Swayam Prakash, Elizabeth C Akam, Melissa Kirby, Martin R Lindley, Nakul Sinha, Suraksha Agrawal
BACKGROUND: Cytokines regulate the expression of inflammatory molecules which destabilize the atheromatic plaques. This study focuses on studying the association of inflammatory cytokine polymorphisms like TNF-α -308 (G/A), TNF-β +252 (A/G), IL-6 -174 (G/C) and IL-6 -597 (G/A), and IFN-ɣ +874 (T/A) with coronary artery disease (CAD) among north Indian patients. MATERIALS AND METHODS: 143 CAD and 137 normal healthy controls were recruited in this study. DNA extraction was carried out by high salting out method...
July 21, 2017: Gene
https://www.readbyqxmd.com/read/28739304/role-of-nadphox-rho-kinase-signaling-in-the-cyclosporine-nsaids-interactions-on-blood-pressure-and-baroreflexes-in-female-rats
#9
Hanan M El-Gowelli, Karim S Ibrahim, Ahmed F El-Yazbi, Mahmoud M El-Mas
AIMS: The hypertensive effect of the immunosuppressant drug cyclosporine (CSA) is paralleled, and probably triggered, by impaired arterial baroreceptor sensitivity (BRS). Here we asked if these effects of CSA are influenced by co-administration of nonsteroidal antiinflammatory drugs (NSAIDs) and if the oxidative NADPH-oxidase (NADPHox)/Rho-kinase (ROCK) pathway mediates this interaction. MATERIALS AND METHODS: Female rats were treated for 10days with CSA (25mg/kg/day), diclofenac (DIC, COX-1/COX-2 inhibitor, 1mg/kg/day), celecoxib (COX-2 inhibitor, 10mg/kg/day), or their combinations...
July 21, 2017: Life Sciences
https://www.readbyqxmd.com/read/28738977/glutathione-peroxidase-3-gene-polymorphisms-and-the-risk-of-sudden-sensorineural-hearing-loss
#10
Chen-Yu Chien, Tzu-Yen Huang, Shu-Yu Tai, Ning-Chia Chang, Hsun-Mo Wang, Ling-Feng Wang, Kuen-Yao Ho
The glutathione peroxidase 3 gene (GPX3) is reported to be a risk factor for arterial ischaemic stroke and cerebral venous thrombosis. GPX3 may be one of the aetiologies of sudden sensorineural hearing loss (SSNHL), which might be attributed to the genetic effect of GPX3 by influence reactive oxygen species (ROS). Unbalanced ROS have been associated with susceptibility to SSNHL. Therefore, we conducted a case-control study with 416 SSNHL cases and 255 controls. Five single nucleotide polymorphisms (SNPs) were selected...
July 2017: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/28738859/genes-and-pathways-underlying-susceptibility-to-impaired-lung-function-in-the-context-of-environmental-tobacco-smoke-exposure
#11
K de Jong, J M Vonk, M Imboden, L Lahousse, A Hofman, G G Brusselle, N M Probst-Hensch, D S Postma, H M Boezen
BACKGROUND: Studies aiming to assess genetic susceptibility for impaired lung function levels upon exposure to environmental tobacco smoke (ETS) have thus far focused on candidate-genes selected based on a-priori knowledge of potentially relevant biological pathways, such as glutathione S-transferases and ADAM33. By using a hypothesis-free approach, we aimed to identify novel susceptibility loci, and additionally explored biological pathways potentially underlying this susceptibility to impaired lung function in the context of ETS exposure...
July 24, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28738841/identifying-and-mitigating-batch-effects-in-whole-genome-sequencing-data
#12
Jennifer A Tom, Jens Reeder, William F Forrest, Robert R Graham, Julie Hunkapiller, Timothy W Behrens, Tushar R Bhangale
BACKGROUND: Large sample sets of whole genome sequencing with deep coverage are being generated, however assembling datasets from different sources inevitably introduces batch effects. These batch effects are not well understood and can be due to changes in the sequencing protocol or bioinformatics tools used to process the data. No systematic algorithms or heuristics exist to detect and filter batch effects or remove associations impacted by batch effects in whole genome sequencing data...
July 24, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28738811/associations-of-genetic-variation-in-casp3-gene-with-noise-induced-hearing-loss-in-a-chinese-population-a-case-control-study
#13
Yinyin Wu, Juntao Ni, Mingjian Qi, Chengjian Cao, Yuxian Shao, Liangwen Xu, Haiyan Ma, Lei Yang
BACKGROUND: Noise-induced hearing loss (NIHL) is a complex disease caused by environmental and genetic risk factors. This study explored the relationship between the genetic variations in the CASP gene and the risk of developing NIHL among Chinese workers exposed to occupational noise. METHODS: A case-control study of 272 NIHL workers and 272 normal-hearing workers matched for age, sex and years of noise exposure was conducted. Fifteen single-nucleotide polymorphisms (SNP) in the CASP1, CASP3, CASP4, CASP5, CASP6, CASP8, CASP9, CASP10 and CASP14 genes were genotyped using the polymerase chain reaction-ligase detection reaction method...
July 24, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28738682/prototropically-allosteric-probe-for-superbly-selective-dna-analysis
#14
Fan Lin, Yufeng Zhou, Qiusha Li, Xiao-Shun Zhou, Yong Shao, Benoit Habermeyer, Hui Wang, Xinghua Shi, Zhiai Xu
Selective nucleotide recognition for biosensor evolution requires rational probe design towards the binding pattern-susceptible readout but without serious poison in selectivity from the context sequences. In this work, we synthesized a dual-function trihydroxyphenyl porphyrin (POH3) to target abasic site (AP site) in ds-DNA using the trihydroxyphenyl substituent and the tetrapyrrole macrocycle as the recognition unit (RU) and the fluorescent signal unit (SU), respectively. RU and SU are separated each other but are prototropically allosteric...
July 25, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28738233/association-of-the-il-15-and-il-15r%C3%AE-genes-with-celiac-disease
#15
Celia Escudero-Hernández, Leticia Plaza-Izurieta, José A Garrote, José Ramón Bilbao, Eduardo Arranz
Celiac disease is a chronic autoimmune condition triggered by dietary gluten in genetically predisposed individuals and the treatment is a strict gluten-free diet. The major predisposing genes are HLA-DQA1 and HLA-DQB1, but these are not sufficient for disease development. One of the candidate genes worth studying is interleukin (IL)-15 gene, together with its specific receptor, IL-15Rα, as they participate in promoting lymphocyte signaling and survival, and the establishment of appropriate conditions for villous atrophy, then acting as key players in the immunopathogenesis of CD...
July 21, 2017: Cytokine
https://www.readbyqxmd.com/read/28737979/hect-domain-and-rcc1-like-domain-containing-protein-5-herc-5-gene-polymorphisms-in-hiv-1-infected-individuals-a-study-from-india
#16
Nawaj Shaikh, Vandana Saxena, Sudhanshu Pandey, Ajit Patil, Madhuri Thakar
HECT domain and RCC1-like domain-containing protein 5 (HERC-5) is one of the novel host restriction factors that is known to inhibit HIV release in vitro. Polymorphisms in other host restriction factors have been associated with HIV infection and disease progression. However, no report is available on the HERC-5 polymorphism in HIV-infected individuals. We studied the HERC-5 gene polymorphism in HIV-infected individuals and explored whether it is associated with different disease outcomes. Genomic DNA was isolated from 41 HIV-1 progressors, 39 long-term nonprogressors, and 74 HIV seronegative healthy donors for amplification of HERC5 Exon-18 and other regulatory regions followed by sequencing...
July 24, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28737785/how-to-obtain-pt-iv-complexes-suitable-for-conjugation-to-nanovectors-from-the-oxidation-of-ptcl-terpyridine
#17
E Gabano, E Perin, C Fielden, J A Platts, A Gallina, B Rangone, M Ravera
Oxidation of [Pt((II))Cl(terpy)](+) (terpy = 2,2':6',2''-terpyridine) has been attempted with several oxidizing agents and under different experimental conditions in order to obtain a Pt(iv) complex suitable for the conjugation to nanovectors to be used in drug delivery targeting for anticancer therapy. The best compromise in terms of yield and purity of the final complex was obtained by microwave-assisted reaction at 70 °C in 50% aqueous H2O2 for 2 h. Under these conditions the quantitative formation of [Pt((IV))Cl(OH)2(terpy)](+) was observed...
July 24, 2017: Dalton Transactions: An International Journal of Inorganic Chemistry
https://www.readbyqxmd.com/read/28737288/linkage-disequilibrium-among-commonly-genotyped-snp-variants-detected-from-bull-sequence
#18
W M Snelling, L A Kuehn, B N Keel, R M Thallman, G L Bennett
Genomic prediction utilizing causal variants could increase selection accuracy above that achieved with SNPs genotyped by currently available arrays used for genomic selection. A number of variants detected from sequencing influential sires are likely to be causal, but noticeable improvements in prediction accuracy using imputed sequence variant genotypes have not been reported. Improvement in accuracy of predicted breeding values may be limited by the accuracy of imputed sequence variants. Using genotypes of SNPs on a high-density array and non-synonymous SNPs detected in sequence from influential sires of a multibreed population, results of this examination suggest that linkage disequilibrium between non-synonymous and array SNPs may be insufficient for accurate imputation from the array to sequence...
July 24, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28737212/a-genome-wide-association-study-for-equine-recurrent-airway-obstruction-in-european-warmblood-horses-reveals-a-suggestive-new-quantitative-trait-locus-on-chromosome-13
#19
D Schnider, S Rieder, T Leeb, V Gerber, M Neuditschko
Recurrent airway obstruction (RAO), also known as heaves, is an asthma-like respiratory disease. Its development is strongly influenced by environmental risk factors such as sensitization and exposure to moldy hay, straw bedding and stabling indoors. A hereditary component has been documented in previous studies; however, so far no causative genetic variant that influences the risk of developing RAO has been identified. In this study, we revised an existing dataset and selected 384 horses for genotyping on the Affymetrix high-density equine SNP array...
July 24, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28736938/genetic-variation-in-pythium-myriotylum-based-on-snp-typing-and-development-of-a-pcr-rflp-detection-of-isolates-recovered-from-pythium-soft-rot-ginger
#20
Duy P Le, Mike K Smith, Elizabeth A B Aitken
Pythium myriotylum is responsible for severe losses in both capsicum and ginger crops in Australia under different regimes. Intraspecific genomic variation within the pathogen might explain the differences in aggressiveness and pathogenicity on diverse hosts. In this study, whole genome data of four P. myriotylum isolates recovered from three hosts and one P. zingiberis isolate were derived and analysed for sequence diversity based on single nucleotide polymorphisms (SNPs). A higher number of true and unique SNPs occurred in P...
July 23, 2017: Letters in Applied Microbiology
keyword
keyword
12682
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"