keyword
MENU ▼
Read by QxMD icon Read
search

Single nucleotide polymorphism

keyword
https://www.readbyqxmd.com/read/29342199/a-non-linear-pharmacokinetic-pharmacodynamic-relationship-of-metformin-in-healthy-volunteers-an-open-label-parallel-group-randomized-clinical-study
#1
Hyewon Chung, Jaeseong Oh, Seo Hyun Yoon, Kyung-Sang Yu, Joo-Youn Cho, Jae-Yong Chung
BACKGROUND: The aim of this study was to explore the pharmacokinetic-pharmacodynamic (PK-PD) relationship of metformin on glucose levels after the administration of 250 mg and 1000 mg of metformin in healthy volunteers. METHODS: A total of 20 healthy male volunteers were randomized to receive two doses of either a low dose (375 mg followed by 250 mg) or a high dose (1000 mg followed by 1000 mg) of metformin at 12-h intervals. The pharmacodynamics of metformin was assessed using oral glucose tolerance tests before and after metformin administration...
2018: PloS One
https://www.readbyqxmd.com/read/29341862/identification-of-three-genetic-variants-as-novel-susceptibility-loci-for-body-mass-index-in-a-japanese-population
#2
Yoshiki Yasukochi, Jun Sakuma, Ichiro Takeuchi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Yoshiji Yamada
Recent genome-wide association studies have identified various obesity or metabolic syndrome (MetS) susceptibility loci. However, most studies were conducted in a cross-sectional manner. To address this gap, we performed a longitudinal exome-wide association study to identify susceptibility loci for obesity and MetS in a Japanese population. We traced clinical data of 6022 Japanese who had annual health check-ups for several years (mean follow-up period, 5 years), and genotyped ~244,000 genetic variants. The association of single nucleotide polymorphisms (SNPs) with body mass index (BMI) or the prevalence of obesity and MetS was examined using a generalized estimating equation model...
January 12, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29341488/gene-gene-interaction-between-msx1-and-tp63-in-asian-case-parent-trios-with-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#3
Dongjing Liu, Holger Schwender, Mengying Wang, Hong Wang, Ping Wang, Hongping Zhu, Zhibo Zhou, Jing Li, Tao Wu, Terri H Beaty
BACKGROUND: Small ubiquitin-like modification, also known as sumoylation, is a crucial post-translational regulatory mechanisms involved in development of the lip and palate. Recent studies reported two sumoylation target genes, MSX1 and TP63, to have achieved genome-wide level significance in tests of association with nonsyndromic clefts. Here, we performed a candidate gene analysis considering gene-gene and gene-environment interaction for SUMO1, MSX1, and TP63 to further explore the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P)...
January 17, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29340898/epidemiological-aspects-of-healthcare-associated-infections-and-microbial-genomics
#4
C Mirande, I Bizine, A Giannetti, N Picot, A van Belkum
Hospital-acquired infections (HAIs) are a cause of continuously increasing morbidity and mortality. Most of these infections are caused by a limited set of bacterial species, which share the capability to efficiently spread from patient to patient and to easily acquire antibiotic resistance determinants. This renders correct and rapid species identification and antibiotic susceptibility testing (AST) important and underscores the relevance of bacterial epidemiological typing. The latter is needed for the sensitive detection and exact tracing of nosocomial spread of these potentially multidrug-resistant microorganisms (MDRO)...
January 17, 2018: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/29340806/distribution-of-il28b-and-il10-polymorphisms-as-genetic-predictors-of-treatment-response-in-pakistani-hcv-genotype-3-patients
#5
Humaira Naeemi, Rabia Aslam, Syed Mohsin Raza, Muhammad Aiman Shahzad, Shagufta Naz, Sobia Manzoor, Saba Khaliq
There are over 10 million hepatitis C virus (HCV)-infected patients in Pakistan. For these patients, a combination of interferon with ribavirin is the most economical and easily available treatment. Single-nucleotide polymorphisms in interleukin genes have been reported to be associated with the pathogenesis and clearance of HCV, and sustained virologic response (SVR). An interleukin 28B (IL28B) gene polymorphism has been shown to modify treatment outcomes, but the effects of interleukin 10 (IL10) polymorphisms have not been previously assessed in the Pakistani population...
January 16, 2018: Archives of Virology
https://www.readbyqxmd.com/read/29340733/population-pharmacokinetics-of-lamotrigine-co-administered-with-valproic-acid-in-chinese-epileptic-children-using-nonlinear-mixed-effects-modeling
#6
Shansen Xu, Limin Liu, Yanan Chen, Mei Liu, Tong Lu, Huanxin Wang, Shihao Liu, Mingming Zhao, Limei Zhao
PURPOSE: The aims of this study were to develop a population pharmacokinetic (PPK) model of lamotrigine (LTG) in Chinese epileptic children by using nonlinear mixed effects modeling (NONMEM) and to investigate the effects of valproic acid (VPA) and genetic polymorphisms of the major metabolizing enzymes (UGT1A4, UGT2B7) on the pharmacokinetics of LTG. METHODS: A total of 182 epileptic children who were treated with LTG as monotherapy or as part of combination therapy were included in this study as the model group, and 61 patients were included as the validation group...
January 16, 2018: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29340614/association-of-polygenic-risk-score-with-cognitive-decline-and-motor-progression-in-parkinson-disease
#7
Kimberly C Paul, Jessica Schulz, Jeff M Bronstein, Christina M Lill, Beate R Ritz
Importance: Genetic factors have a well-known influence on Parkinson disease (PD) susceptibility. The largest genome-wide association study (GWAS) identified 26 independent single-nucleotide polymorphisms (SNPs) associated with PD risk. Among patients, the course and severity of symptom progression is variable, and little is known about the potential association of genetic factors with phenotypic variance. Objective: To assess whether GWAS-identified PD risk SNPs also have a cumulative association with the progression of cognitive and motor symptoms in patients with PD...
January 16, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29340111/effect-of-dihydropyrimidine-dehydrogenase-single-nucleotide-polymorphisms-on-prognosis-of-breast-cancer-patients-with-chemotherapy
#8
Fengxia Qin, Huikun Zhang, Yong Huang, Limin Yang, Feng Yu, Xiaoli Liu, Li Fu, Feng Gu, Yongjie Ma
Defining biomarkers that predict therapeutic effects and adverse events is a crucial mandate to guide patient selection for personalized cancer treatments. DPD (dihydropyrimidine dehydrogenase, encoded by DPYD gene) is the initial and rate-limiting enzyme of metabolic pathway of fluoropyrimidines, and fluoropyrimidines are common used drug therapies for breast cancer. Previous studies on DPYD polymorphism were mainly focused on its association with fluoropyrimidines toxicity. In our present study, 5 DPYD single nucleotide polymorphisms status was detected from tumor tissues of 331 invasive breast cancer patients using standard techniques...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29340108/effect-of-gene-lifestyle-interaction-on-gestational-diabetes-risk
#9
Polina V Popova, Alexandra A Klyushina, Lyudmila B Vasilyeva, Alexandra S Tkachuk, Yana A Bolotko, Andrey S Gerasimov, Evgenii A Pustozerov, Ekaterina N Kravchuk, Alexander Predeus, Anna A Kostareva, Elena N Grineva
We hypothesized that the association of certain lifestyle parameters with gestational diabetes mellitus (GDM) risk would depend on susceptibility loci. In total, 278 Russian women with GDM and 179 controls completed questionnaires about lifestyle habits (food consumption, physical activity and smoking). GDM was diagnosed according to the criteria of the International Association of Diabetes and Pregnancy Study Groups. Maternal blood was sampled for genotyping single-nucleotide polymorphisms (SNPs) in MTNR1B (rs10830963 and rs1387153), GCK (rs1799884), KCNJ11 (rs5219), IGF2BP2 (rs4402960), TCF7L2 (rs7903146 and rs12255372), CDKAL1 (rs7754840), IRS1 (rs1801278) and FTO (rs9939609)...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29340069/methylenetetrahydrofolate-reductase-tagging-polymorphisms-are-associated-with-risk-of-esophagogastric-junction-adenocarcinoma-a-case-control-study-involving-2-740-chinese-han-subjects
#10
Guowen Ding, Yafeng Wang, Yu Chen, Jun Yin, Chao Liu, Yu Fan, Hao Qiu, Weifeng Tang, Shuchen Chen
In this study, we aimed to determine the potential association of MTHFR tagging single nucleotide polymorphisms (SNPs) with risk of developing esophagogastric junction adenocarcinoma (EGJA). MTHFR rs1801133 G>A, rs3753584 T>C, rs4845882 G>A, rs4846048 A>G and rs9651118 T>C polymorphisms were genotyped in 1,677 healthy individuals and 1,063 patients with EGJA. We found that MTHFR rs1801133 G>A polymorphism was significantly associated with the risk of developing EGJA (AA vs. GG: adjusted P = 0...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29340035/abcb1-3435tt-and-abcg2-421cc-genotypes-were-significantly-associated-with-longer-progression-free-survival-in-chinese-breast-cancer-patients
#11
Wanjun Li, Dan Zhang, Fen Du, Xuemei Xing, Ying Wu, Dong Xiao, Ming Liang, Zhigang Fan, Peng Zhao, Tao Liu, Guoyin Li
Objective: To investigate the distribution of ABCB1 C3435T and ABCG2 C421A gene polymorphisms in Chinese Han population and their influences on the susceptibility and prognosis of breast carcinoma. Methods: A total of 200 female subjects were enrolled in this study, comprising 100 breast cancer patients and 100 healthy controls. Carcinoma and para-carcinoma tissues were collected from the breast cancer patients, while peripheral blood was collected from healthy controls...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29340022/a-functional-polymorphism-of-ssbp1-gene-predicts-prognosis-and-response-to-chemotherapy-in-resected-gastric-cancer-patients
#12
Qiuchen Li, Falin Qu, Renli Li, Xianli He, Yulong Zhai, Weigang Chen, Yong Zheng
Growing evidence has indicated that single-stranded DNA-binding proteins 1 (SSBP1) is involved in tumor initiation and progression. However, effects of single nucleotide polymorphisms (SNPs) in SSBP1 gene on gastric cancer (GC) prognosis are still unknown. In present study, two functional SNPs from SSBP1 were selected and genotyped in a large cohorts of 1030 resected GC patients (326 in the training set, 704 in the validation set) to explore the association of SNPs with patients' survival. The rs6976500 G allele (CG/GG) genotypes were found significantly associated with both worse overall survival (OS) and recurrence-free survival (RFS) in the training and the independent validation set when compared to C allele genotype, which reaching a more robust statistical significance in the pooled analysis...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29339698/association-of-interleukin-1-gene-cluster-polymorphisms-with-coronary-slow-flow-phenomenon
#13
Ferit Onur Mutluer, Dilek Ural, Barış Güngör, Osman Bolca, Tolga Aksu
OBJECTIVE: Coronary slow flow phenomenon (CSFP) is characterized by the decreased rate of contrast progression in epicardial coronary arteries in the absence of significant coronary stenosis. Mounting evidence has showed a significant association between inflammation and CSFP severity. This study aimed to evaluate possible associations between interleukin-1 receptor antagonist (IL-1ra) gene variable number tandem repeat (VNTR), IL-1ß -511 single nucleotide (SNP), and IL-1ß+3954 SNP mutations with CSFP...
January 2018: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/29339533/learning-dependent-chromatin-remodeling-highlights-noncoding-regulatory-regions-linked-to-autism
#14
John N Koberstein, Shane G Poplawski, Mathieu E Wimmer, Giulia Porcari, Charlly Kao, Bruce Gomes, Davide Risso, Hakon Hakonarson, Nancy R Zhang, Robert T Schultz, Ted Abel, Lucia Peixoto
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder that is associated with genetic risk factors. Most human disease-associated single-nucleotide polymorphisms (SNPs) are not located in genes but rather are in regulatory regions that control gene expression. The function of regulatory regions is determined through epigenetic mechanisms. Parallels between the cellular basis of development and the formation of long-term memory have long been recognized, particularly the role of epigenetic mechanisms in both processes...
January 16, 2018: Science Signaling
https://www.readbyqxmd.com/read/29339406/genetic-diversity-molecular-phylogeny-and-selection-evidence-of-jinchuan-yak-revealed-by-whole-genome-resequencing
#15
Daoliang Lan, Xianrong Xiong, Tserang-Donko Mipam, Changxiu Fu, Qiang Li, Yi Ai, Dingchao Hou, Zhixin Chai, Jincheng Zhong, Jian Li
Jinchuan yak, a newly discovered yak breed, not only possesses a large proportion of multi-ribs but also exhibits many good characteristics, such as high meat production, milk yield and reproductive performance. However, information about their overall genetic structure, relationship with yaks in other areas, and possible origins and evolutionary processes is limited. In this study, 7,693,689 high-quality single-nucleotide polymorphisms were identified by resequencing the genome of Jinchuan yak. Principal component and population genetic structure analyses showed that Jinchuan yak was distinguished as an independent population among the domestic yak population...
January 16, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29339098/vitamin-d-and-nonalcoholic-fatty-liver-disease-bi-directional-mendelian-randomization-analysis
#16
Ningjian Wang, Chi Chen, Li Zhao, Yi Chen, Bing Han, Fangzhen Xia, Jing Cheng, Qin Li, Yingli Lu
BACKGROUND: Vitamin D deficiency is associated with nonalcoholic fatty liver disease (NAFLD) in many cross-sectional studies. However, the causality between them has not been established. We used bi-directional mendelian randomization (MR) analysis to explore the causal relationship between 25-hydroxyvitamin D [25(OH)D] and NAFLD. METHODS: 9182 participants were included from a survey in East China from 2014 to 2016. We calculated weighted genetic risk scores (GRS) for 25(OH)D concentration and NAFLD based on 25(OH)D-related and NAFLD-related single nucleotide polymorphisms...
January 9, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29338921/faster-progression-from-mci-to-probable-ad-for-carriers-of-a-single-nucleotide-polymorphism-associated-with-type-2-diabetes
#17
Hugo Girard, Olivier Potvin, Scott Nugent, Caroline Dallaire-Théroux, Stephen Cunnane, Simon Duchesne
Sporadic Alzheimer's disease (AD), as opposed to its autosomal dominant form, is likely caused by a complex interaction of genetic, environmental, and health lifestyle factors. Twin studies indicate that sporadic AD heritability could be between 58% and 79%, around half of which is explained by the ε4 allele of the apolipoprotein E (APOE4). We hypothesized that genes associated with known risk factors for AD, namely hypertension, hypercholesterolemia, obesity, diabetes, and cardiovascular disease, would contribute significantly to the remaining heritability...
December 7, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29338791/associations-of-the-hypertension-related-single-nucleotide-polymorphism-rs11191548-with-high-density-lipoprotein-cholesterol-and-leptin-in-chinese-children
#18
Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu, Jie Mi
BACKGROUND: The genome-wide association study has founded hypertension-related single nucleotide polymorphism (SNP) rs11191548 near CYP17A1 encoding a key enzyme involved in steroid metabolism, but the molecular mechanisms are not understood and the associations of the SNP with hypertension-related traits are not fully described, especially in children. The aim of the present study is to investigate the associations between the SNP and two hypertension-related traits, lipids and leptin...
January 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29338687/use-of-easy-measurable-phenotypic-traits-as-a-complementary-approach-to-evaluate-the-population-structure-and-diversity-in-a-high-heterozygous-panel-of-tetraploid-clones-and-cultivars
#19
Martin E Tagliotti, Sofia I Deperi, Maria C Bedogni, Ruofang Zhang, Norma C Manrique Carpintero, Joseph Coombs, David Douches, Marcelo A Huarte
BACKGROUND: Diversity in crops is fundamental for plant breeding efforts. An accurate assessment of genetic diversity, using molecular markers, such as single nucleotide polymorphism (SNP), must be able to reveal the structure of the population under study. A characterization of population structure using easy measurable phenotypic traits could be a preliminary and low-cost approach to elucidate the genetic structure of a population. A potato population of 183 genotypes was evaluated using 4859 high-quality SNPs and 19 phenotypic traits commonly recorded in potato breeding programs...
January 16, 2018: BMC Genetics
https://www.readbyqxmd.com/read/29338330/joint-influence-of-snps-and-dna-methylation-on-lipids-in-african-americans-from-hypertensive-sibships
#20
Michelle L Wright, Erin B Ware, Jennifer A Smith, Sharon L R Kardia, Jacquelyn Y Taylor
INTRODUCTION: Plasma concentrations of lipids (i.e., total cholesterol, high-density cholesterol, low-density cholesterol, and triglycerides) are amenable to therapeutic intervention and remain important factors for assessing risk of cardiovascular diseases. Some of the observed variability in serum lipid concentrations has been associated with genetic and epigenetic variants among cohorts with European ancestry (EA). Serum lipid levels have also been associated with genetic variants in multiethnic populations...
January 1, 2018: Biological Research for Nursing
keyword
keyword
31155
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"