keyword
MENU ▼
Read by QxMD icon Read
search

Single nucleotide polymorphisms (SNPs)

keyword
https://www.readbyqxmd.com/read/29160852/the-complete-chloroplast-genome-sequences-of-aconitum-pseudolaeve-and-aconitum-longecassidatum-and-development-of-molecular-markers-for-distinguishing-species-in-the-aconitum-subgenus-lycoctonum
#1
Inkyu Park, Sungyu Yang, Goya Choi, Wook Jin Kim, Byeong Cheol Moon
Aconitum pseudolaeve Nakai and Aconitum longecassidatum Nakai, which belong to the Aconitum subgenus Lycoctonum, are distributed in East Asia and Korea. Aconitum species are used in herbal medicine and contain highly toxic components, including aconitine. A. pseudolaeve, an endemic species of Korea, is a commercially valuable material that has been used in the manufacture of cosmetics and perfumes. Although Aconitum species are important plant resources, they have not been extensively studied, and genomic information is limited...
November 21, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29160302/role-of-cyp24a1-vdr-and-gc-gene-polymorphisms-on-deferasirox-pharmacokinetics-and-clinical-outcomes
#2
S Allegra, J Cusato, S De Francia, A Arduino, F Longo, E Pirro, D Massano, A De Nicolò, A Piga, A D'Avolio
β-Thalassemia patients develop deficiency in vitamin D absorption and liver hydroxylation, resulting in extremely low calcitriol levels. We explored the role of single-nucleotide polymorphisms (SNPs) involved in vitamin D metabolism, transport and activity on deferasirox pharmacokinetics and outcomes (effectiveness trough levels (Ctrough) and the area under the curve (AUC) cutoffs of 20 μg ml(-1) and 360 μg ml(-1) h(-1), respectively; nonresponse AUC limit of 250 μg ml(-1) h(-1)). Ninety-nine β-thalassemic patients were enrolled...
November 21, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29160301/new-insights-into-the-pharmacogenomics-of-antidepressant-response-from-the-gendep-and-star-d-studies-rare-variant-analysis-and-high-density-imputation
#3
C Fabbri, K E Tansey, R H Perlis, J Hauser, N Henigsberg, W Maier, O Mors, A Placentino, M Rietschel, D Souery, G Breen, C Curtis, L Sang-Hyuk, S Newhouse, H Patel, M Guipponi, N Perroud, G Bondolfi, M O'Donovan, G Lewis, J M Biernacka, R M Weinshilboum, A Farmer, K J Aitchison, I Craig, P McGuffin, R Uher, C M Lewis
Genome-wide association studies have generally failed to identify polymorphisms associated with antidepressant response. Possible reasons include limited coverage of genetic variants that this study tried to address by exome genotyping and dense imputation. A meta-analysis of Genome-Based Therapeutic Drugs for Depression (GENDEP) and Sequenced Treatment Alternatives to Relieve Depression (STAR*D) studies was performed at the single-nucleotide polymorphism (SNP), gene and pathway levels. Coverage of genetic variants was increased compared with previous studies by adding exome genotypes to previously available genome-wide data and using the Haplotype Reference Consortium panel for imputation...
November 21, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29159421/qtl-mapping-of-downy-and-powdery-mildew-resistances-in-pi-197088-cucumber-with-genotyping-by-sequencing-in-ril-population
#4
Yuhui Wang, Kyle VandenLangenberg, Changlong Wen, Todd C Wehner, Yiqun Weng
Host resistances in PI 197088 cucumber to downy and powdery mildew pathogens are conferred by 11 (3 with major effect) and 4 (1 major effect) QTL, respectively, and three of which are co-localized. The downy mildew (DM) and powdery mildew (PM) are the two most important foliar diseases of cucurbit crops worldwide. The cucumber accession PI 197088 exhibits high-level resistances to both pathogens. Here, we reported QTL mapping results for DM and PM resistances with 148 recombinant inbred lines from a cross between PI 197088 and the susceptible line 'Coolgreen'...
November 20, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29158878/molecular-analysis-of-rs2070744-and-rs1799983-polymorphisms-of-nos3-gene-in-iranian-patients-with-multiple-sclerosis
#5
Mohammad Mehdi Heidari, Mehri Khatami, Yaser Tahamtan
Introduction: Multiple Sclerosis (MS) is a disease of central nervous system that mainly causes lesions or plaques in the spinal cord and brain. The purpose of this study was to analyze the relation between c.-813C>T (rs2070744) and c.894G>T (rs1799983) polymorphisms of NOS3 gene and MS in Iranian patients. Methods: A total of 78 patients with MS and 80 healthy controls were screened for NOS3 (rs2070744 and rs1799983) Single Nucleotide Polymorphisms (SNPs) by tetra-primer multiplex ARMS-PCR and PCR-RFLP...
July 2017: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/29158794/association-between-sumoylation-related-gene-rs77447679-polymorphism-and-risk-of-gastric-cancer-gc-in-a-chinese-population
#6
Ying Luo, Sihong You, Jirong Wang, Shuling Fan, Jie Shi, Ai Peng, Tingting Yu
Purpose: Sumoylation plays a critical role in gene regulation and tumorigenesis, and is hypothesized to correlate with the development of various cancers. So far, there has been no reported association between sumoylation-related genes and the risk of gastric cancer (GC). Methods: A total of 17 tagging single-nucleotide polymorphisms (tag-SNPs) in 5 sumoylation-related genes were selected and genotyped by SNaPshot in a case-control study, including 1021 GC patients and 1304 controls. Odds ratio (OR) and 95% confidential interval (CI) were computed to evaluate the genetic association of the onset of GC...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/29158681/the-associations-between-common-snps-of-efemp1-gene-and-glioma-risk-in-chinese-population
#7
Jun Hu, Dong Dong, Dandan Lu
Background: Although the associations between common single nucleotide polymorphisms (SNPs) of EFEMP1 gene and glioma risk have been investigated in Chinese population-based case-control studies, investigation results for several SNPs are inconsistent. In addition, the single-center study has a poor statistical power due to finite sample size. Therefore, a meta-analysis was conducted to comprehensively determine the associations. Methods: All eligible case-control studies were obtained by searching PubMed, EMBASE, Web of Science, and Chinese National Knowledge Infrastructure...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29158582/the-camp-responsive-element-binding-creb-1-gene-increases-risk-of-major-psychiatric-disorders
#8
X Xiao, C Zhang, M Grigoroiu-Serbanescu, L Wang, L Li, D Zhou, T-F Yuan, C Wang, H Chang, Y Wu, Y Li, D-D Wu, Y-G Yao, M Li
Bipolar disorder (BPD), schizophrenia (SCZ) and unipolar major depressive disorder (MDD) are primary psychiatric disorders sharing substantial genetic risk factors. We previously reported that two single-nucleotide polymorphisms (SNPs) rs2709370 and rs6785 in the cAMP responsive element-binding (CREB)-1 gene (CREB1) were associated with the risk of BPD and abnormal hippocampal function in populations of European ancestry. In the present study, we further expanded our analyses of rs2709370 and rs6785 in multiple BPD, SCZ and MDD data sets, including the published Psychiatric Genomics Consortium (PGC) genome-wide association study, the samples used in our previous CREB1 study, and six additional cohorts (three new BPD samples, two new SCZ samples and one new MDD sample)...
November 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29158487/genetic-variants-associated-with-physical-performance-and-anthropometry-in-old-age-a-genome-wide-association-study-in-the-ilsirente-cohort
#9
David Heckerman, Bryan J Traynor, Anna Picca, Riccardo Calvani, Emanuele Marzetti, Dena Hernandez, Michael Nalls, Sampath Arepali, Luigi Ferrucci, Francesco Landi
Unraveling the complexity of aging is crucial for understanding its mechanisms and its role as a risk factor for most chronic conditions. Advancements marked by genome-wide association studies (GWASs) have sparked interest in gene cataloguing in the context of aging and age-related conditions. Here, we used GWAS to explore whether single nucleotide polymorphisms (SNPs) were associated with functional and anthropometric parameters in a cohort of old community-dwellers enrolled in the ilSIRENTE study. Analyses were carried out in men and women aged 80+ years enrolled in the ilSIRENTE study (n = 286) and replicated in the inCHIANTI study (n = 1055)...
November 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29157048/the-drosha-rs10719-t-c-polymorphism-is-associated-with-preeclampsia-susceptibility
#10
Mahnaz Rezaei, Fatemeh Eskandari, Abbas Mohammadpour-Gharehbagh, Batool Teimoori, Minoo Yaghmaei, Mojgan Mokhtari, Saeedeh Salimi
PURPOSE: Drosha is a member of the micro RNA (miRNA) processing machinery that affects miRNA processing. Single-nucleotide polymorphisms (SNPs) in the Drosha gene might affect microRNA processing and the expression of various genes. The aim of this study is to investigate the association between SNPs in the Drosha gene and preeclampsia (PE) in the southeast of Iran. METHODS: Genotyping of Drosha rs10719 and rs6877842 was performed using blood samples from 219 PE women and 205 healthy control subjects by a polymerase chain reaction-restriction fragment length polymorphism method...
November 20, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/29156842/associations-between-egfr-gene-polymorphisms-and-susceptibility-to-glioma-a-systematic-review-and-meta-analysis-from-gwas-and-case-control-studies
#11
Xiao Yu, Nian Rong Sun, Hai Tao Jang, Shi Wen Guo, Min Xue Lian
The results of genome-wide association studies (GWAS) and case-control studies performed to investigate the associations between epidermal growth factor receptor (EGFR) gene polymorphisms and glioma risk are controversial. The aim of this systematic review and meta-analysis is to determine whether EGFR gene polymorphisms are associated with glioma risk by searching 'PubMed', 'EMBASE', 'Web of Science', 'Cochrane Library' and 'China WeiPu Library' to retrieve studies that investigated associations between EGFR gene polymorphisms and glioma risk...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156806/association-between-snps-in-microrna-machinery-genes-and-gastric-cancer-susceptibility-invasion-and-metastasis-in-chinese-han-population
#12
Xingbo Song, Huiyu Zhong, Qian Wu, Minjin Wang, Juan Zhou, Yi Zhou, Xiaojun Lu, Binwu Ying
Objective: The present study investigates the influence of genetic variants in miRNA machinery genes (DROSHA, DICER, AGO1, and GEMIN4) on gastric cancer in Chinese Han population, further revealing the genetic mechanisms of gastric cancer occurrence and development. Methods: Genotyping of single nucleotide polymorphisms (SNPs) was performed in 628 patients with GC and 502 frequency-matched (age and gender) controls by the high resolution melting (HRM) method. Results: The SNPs rs3742330 (DICER) and rs7813 (GEMIN4) were associated with susceptibility to gastric cancer (P = 0...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156789/xrcc1-mediated-the-development-of-cervival-cancer-through-a-novel-sp1-krox-20-swich
#13
Qingtao Meng, Shizhi Wang, Weiyan Tang, Shenshen Wu, Na Gao, Chengcheng Zhang, Xiaoli Cao, Xiaobo Li, Zhengdong Zhang, Michael Aschner, Hua Jin, Yue Huang, Rui Chen
Cervical cancer is the second leading cause of mortality among women. Impairment of the base excision repair (BER) pathway is one of the major causes of the initiation and progression of cervical cancer. However, whether the polymorphisms of the BER pathway components (i.e., HOGG1, XRCC1, ADPRT, and APE1) can affect the risk of cervical cancer remains unknown. Herein, we applied a hospital-based case-control study covering two independent cohorts and a subsequent functional assay to determine the roles of the single nucleotide polymorphisms (SNPs) of the BER pathway genes in cervical cancer...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156748/association-of-melatonin-membrane-receptor-1a-1b-gene-polymorphisms-with-the-occurrence-and-metastasis-of-hepatocellular-carcinoma
#14
Shih-Chi Su, Yung-Chuan Ho, Yu-Fan Liu, Russel J Reiter, Chia-Hsuan Chou, Chia-Ming Yeh, Hsiang-Lin Lee, Wen-Hung Chung, Ming-Ju Hsieh, Shun-Fa Yang
Hepatocellular carcinoma (HCC) is a prevalent primary neoplasm of the liver, whose heterogeneous global incidence suggests the likely impact of genetic variations among individuals on the susceptibility to this disease. Increasing evidence indicates that melatonin exhibits oncostatic properties in many cancer types at least in part mediated by its membrane-bound receptors, melatonin receptor 1A (encoded by MTNR1A) and 1B (MTNR1B). In this study, the effect of melatonin receptor gene polymorphisms on the risk and progression of hepatic tumors was evaluated between 335 HCC patients and 1196 cancer-free subjects...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156695/mir-2964a-5p-binding-site-snp-regulates-atm-expression-contributing-to-age-related-cataract-risk
#15
Han Rong, Shanshan Gu, Guowei Zhang, Lihua Kang, Mei Yang, Junfang Zhang, Xinyue Shen, Huaijin Guan
This study was to explore the involvement of DNA repair genes in the pathogenesis of age-related cataract (ARC). We genotyped nine single nucleotide polymorphisms (SNPs) of genes responsible to DNA double strand breaks (DSBs) in 804 ARC cases and 804 controls in a cohort of eye diseases in Chinese population and found that the ataxia telangiectasia mutated (ATM) gene-rs4585:G>T was significantly associated with ARC risk. An in vitro functional test found that miR-2964a-5p specifically down-regulated luciferase reporter expression and ATM expression in the cell lines transfected with rs4585 T allele compared to rs4585 G allele...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29155175/fcgr2a-single-nucleotide-polymorphism-confers-susceptibility-to-childhood-onset-idiopathic-nephrotic-syndrome
#16
Giovanni M Rossi, Francesco Bonatti, Alessia Adorni, Federico Alberici, Monica Bodria, Alice Bonanni, Gian M Ghiggeri, Davide Martorana, Augusto Vaglio
Childhood-onset idiopathic nephrotic syndrome affects 1.15-3.4 children/100,000 children/year in Western Countries. Immune-mediated mechanisms, particularly T cell-mediated, are thought to play a key pathogenic role. The genetic basis of the disease is still poorly understood. We tested the association between single nucleotide polymorphisms (SNPs) of four genes encoding Fc gamma receptors (FCGR2A, FCGR2B, FCGR3A, FCGR3B) and idiopathic nephrotic syndrome in a case-control study of paediatric patients. Children with idiopathic nephrotic syndrome (aged 1-16 years) were included...
November 15, 2017: Immunology Letters
https://www.readbyqxmd.com/read/29155127/mdr1-gene-c3435t-polymorphism-in-chronic-hepatitis-c-patients
#17
Mehdi Parsanahad, Manoochehr Makvandi, Ali Teimoori, Shahram Jalilian, Gholamabas Kayedani, Sara Mahmoodi
BACKGROUND: MDR1 is a highly polymorphic gene that encodes P-glycoprotein (P-gp). This protein anchor to the cell membrane and transports toxins, xenobiotic, chemicals, and drugs from the intracellular to extracellular and thus protect cells. Polymorphism of the MDR1 gene seems to be effective in gene expression and response to treatment. Since one of the main mechanisms of drug resistance is the removal of the drug from the cell by ATP-dependent efflux proteins, thus MDR1, single nucleotide polymorphism (SNP) C3435T can be used as a predictor for treatment outcomes...
November 15, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/29154929/identification-of-genetic-variants-of-brucella-spp-through-genome-wide-association-studies
#18
Jagadesan Sankarasubramanian, Udayakumar S Vishnu, Paramasamy Gunasekaran, Jeyaprakash Rajendhran
Brucellosis is an important zoonotic disease caused by Brucella spp. We present a phylogeny of 552 strains based on genome-wide single nucleotide polymorphisms (SNPs) determined by an alignment-free k-mer approach. A total of 138,029 SNPs were identified from 552 Brucella genomes. Of these, 31,152 and 106,877 were core and non-core SNPs, respectively. Based on pan-genome analysis 11,937 and 972 genes were identified as pan and core genome, respectively. The pan-genome-wide analysis studies (Pan-GWAS) could not identify the group-specific variants in Brucella spp...
November 15, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29154912/role-of-rs1501299-variant-in-the-adiponectin-gene-on-total-adiponectin-levels-insulin-resistance-and-weight-loss-after-a-mediterranean-hypocaloric-diet
#19
Daniel Antonio de Luis, Olatz Izaola, David Primo, Rocio Aller
BACKGROUND/AIM: Several adiponectin gene (ADIPOQ) single nucleotide polymorphisms (SNPS) have been related with adiponectin levels and risk for obesity. Our aim was to analyze the effects of rs1501299 ADIPOQ gene polymorphism on total adiponectin levels, insulin resistance and weight loss after a Mediterranean hypocaloric diet in obese subjects. METHODS: A Caucasian population of 82 obese patients was analyzed, before and after 3 months on a Mediterranean hypocaloric diet...
November 14, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29154740/an-association-analysis-between-prl-genotype-and-milk-production-traits-in-italian-mediterranean-river-buffalo
#20
Jun Li, Aixin Liang, Zipeng Li, Chao Du, Guohua Hua, Angela Salzano, Giuseppe Campanile, Bianca Gasparrini, LiGuo Yang
This Research Communication describes the association between genetic variation within the prolactin (PRL) gene and the milk production traits of Italian Mediterranean river buffalo (Bufala mediterranea Italiana). High resolution melting (HRM) techniques were developed for genotyping 465 buffaloes. The association of genetic polymorphism with milk production traits was performed and subsequently the effects of parity and calving season were evaluated. Single nucleotide polymorphisms (SNPs) were identified at exons 2 and 5 and at introns 1 and 2...
November 2017: Journal of Dairy Research
keyword
keyword
104299
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"