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https://www.readbyqxmd.com/read/28941386/trp64arg-polymorphism-of-the-adrb3-gene-associated-with-maximal-fat-oxidation-and-ldl-c-levels-in-non-obese-adolescents
#1
Íncare Correa de Jesus, Lupe Furtado Alle, Eva Cantalejo Munhoz, Larissa Rosa da Silva, Wendell Arthur Lopes, Luciane Viater Tureck, Katia Sheylla Malta Purim, Ana Claudia Kapp Titski, Neiva Leite
OBJECTIVE: To analyze the association between the Trp64Arg polymorphism of the ADRB3 gene, maximal fat oxidation rates (FATMAX) and the lipid profile levels in non-obese adolescents. METHODS: 72 schoolchildren, of both genders, aged between 11 and 17 years, participated in the study. The anthropometric and body composition variables, in addition to total cholesterol (TC), high density lipoprotein (HDL-c), low density lipoprotein (LDL-c), triglycerides (TG), insulin (INS), and basal glycemia (GLIC), were evaluated...
September 20, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28938720/deep-whole-genome-sequencing-of-90-han-chinese-genomes
#2
Tianming Lan, Haoxiang Lin, Wenjuan Zhu, Tellier Christian Asker Melchior Laurent, Mengcheng Yang, Xin Liu, Jun Wang, Jian Wang, Huanming Yang, Xun Xu, Xiaosen Guo
Next-generation sequencing provides a high-resolution insight into human genetic information. However, the focus of previous studies has primarily been on low-coverage data due to the high cost of sequencing. Although the 1000 Genomes Project and the Haplotype Reference Consortium have both provided powerful reference panels for imputation, low-frequency and novel variants remain difficult to discover and call with accuracy on the basis of low-coverage data. Deep sequencing provides an optimal solution for the problem of these low-frequency and novel variants...
September 1, 2017: GigaScience
https://www.readbyqxmd.com/read/28938719/population-wide-sampling-of-retrotransposon-insertion-polymorphisms-using-deep-sequencing-and-efficient-detection
#3
Qichao Yu, Wei Zhang, Xiaolong Zhang, Yongli Zeng, Yeming Wang, Yanhui Wang, Liqin Xu, Xiaoyun Huang, Nannan Li, Xinlan Zhou, Jie Lu, Xiaosen Guo, Guibo Li, Yong Hou, Shiping Liu, Bo Li
Active retrotransposons play important roles during evolution and continue to shape our genomes today, especially in genetic polymorphisms underlying a diverse set of diseases. However, studies of human retrotransposon insertion polymorphisms (RIPs) based on whole-genome deep sequencing at the population level have not been sufficiently undertaken, despite the obvious need for a thorough characterization of RIPs in the general population. Herein, we present a novel and efficient computational tool called Specific Insertions Detector (SID) for the detection of non-reference RIPs...
September 1, 2017: GigaScience
https://www.readbyqxmd.com/read/28938685/a-case-control-study-of-the-association-between-the-egfr-gene-and-glioma-risk-in-a-chinese-han-population
#4
Mengdan Yan, Jingjie Li, Na He, Xugang Shi, Shuli Du, Bin Li, Tianbo Jin
The Epidermal Growth Factor Receptor gene has been reported to be involved in the progression of gliomas which is one of the deadliest primary brain tumors in humans. To determine potential association between EGFR and glioma risk, we performed a case-control study with 394 glioma patients and 298 cancer-free controls in which captured a total of 8 tag single nucleotide polymorphisms of EGFR gene from Xi'an, China. SPSS 19.0 statistical packages, χ(2) test, genetic model analysis and SHEsis software platform were analyzed s the variants in EGFR gene associations with glioma risk...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938673/quantitative-assessment-of-lncrna-hotair-polymorphisms-and-cancer-risk-in-chinese-population-a-meta-analysis-based-on-26-810-subjects
#5
Xu Liu, Qiongyu Duan, Jian Zhang
As a well-known long non-coding RNA, HOTAIR has been demonstrated to be involved in carcinogenesis and progression of various human cancers. Previous studies have investigated the potential association between HOTAIR polymorphisms and cancer risk in Chinese population. However, the results remain conflicting. Therefore, for the first time, we conducted a meta-analysis to derive a more precise estimation of these associations for Chinese. PubMed, Embase, CNKI and Wanfang databases were systematically searched...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938665/meta-analysis-of-the-association-of-the-cyp2j2-g-50t-polymorphism-with-coronary-artery-disease
#6
Jian Chen, Dong-Fei Wang, Guo-Dong Fu, Jie Ding, Lei-Yang Chen, Jia-Lan Lv, Juan Fang, Xiang Yin, Xiao-Gang Guo
The association of the CYP2J2 G-50T polymorphism with coronary artery disease has been explored, but the results remain controversial. Thus, a meta-analysis was conducted to provide a comprehensive estimate of this association. We selected ten articles encompassing 12 independent case-control studies with 7063 cases and 10,453 controls for this meta-analysis. Overall, we found significant associations between the CYP2J2 G-50T polymorphism and coronary artery disease risk in three genetic models (allele model: odds ratio (OR) = 1...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938654/methylenetetrahydrofolate-reductase-c677t-polymorphism-and-the-risks-of-polycystic-ovary-syndrome-an-updated-meta-analysis-of-14-studies
#7
Lihong Wang, Wenting Xu, Caihong Wang, Mengyu Tang, Yujia Zhou
Some studies have reported an association between the Methylenetetrahydrofolate reductase (MTHFR) C667T genetic variant and risk of polycystic ovary syndrome (PCOS), although the results remain controversial. A systematic search was conducted on PubMed, Web of Science, EMBASE, Ovid, Chinese National Knowledge Databases and WanFang databases with relevant keywords. Fourteen studies of sixteen distinct populations involving 1478 PCOS cases and used to conduct a meta-analysis. The T allele was not significantly associated with increased risk of PCOS [OR: 1...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938645/sex-specific-association-of-sh2b3-and-smarca4-polymorphisms-with-coronary-artery-disease-susceptibility
#8
Yuqiang Ji, Yanbin Song, Qingwen Wang, Pengcheng Xu, Zhao Zhao, Xia Li, Nan Wang, Tianbo Jin, Chao Chen
To determine whether sex differences affect the association between genetic polymorphisms and coronary artery disease (CAD) in the Chinese Han population, we conducted a study comparing the frequency of SH2B3 and SMARCA4 variants in 456 CAD patients (291 men, 165 women) and 685 age-matched controls (385 men, 300 women). Ten single nucleotide polymorphisms (SNPs) in SH2B3 and SMARCA4 were genotyped using MassARRAY technology. Allelic and genotypic models and haplotype frequencies were compared between groups...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938640/association-of-two-obesity-related-gene-polymorphisms-lepg2548a-rs7799039-and-leprq223r-rs1137101-with-the-risk-of-breast-cancer
#9
Hui Luan, Hong Zhang, Ying Li, Ping Wang, Lifei Cao, Honglan Ma, Qing Cui, Gang Tian
Many studies have been performed to investigate the correlation of leptin (LEP) and leptin receptor (LEPR) polymorphisms with breast cancer (BC) risk, however the results are inconclusive. To obtain a more precise estimation, we conducted this meta-analysis. We searched PubMed, EMBASE, and Web of Science databases to identify qualified studies. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to evaluate the association. Eight eligible studies (2,124 cases and 5,476 controls) for LEP G2548A (rs7799039) polymorphism, and thirteen studies (5,282 cases and 6,140 controls) for LEPR Q223R (rs1137101) polymorphism were included in our study...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938556/abcg2-and-ncf4-polymorphisms-are-associated-with-clinical-outcomes-in-diffuse-large-b-cell-lymphoma-patients-treated-with-r-chop
#10
Duo Liu, Nan Wu, Haiming Sun, Mei Dong, Tianzhu Guo, Peng Chi, Guofu Li, Donglin Sun, Yan Jin
The impact of pharmacogenetics on predicting survival in diffuse large B-cell lymphoma (DLBCL) remains unclear. We tested 337 DLBCL patients treated with rituximab-cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) for 9 single nucleotide polymorphisms from 6 genes (CD20, FCGR2A, NAD(P)H, ABCC2, ABCG2 and CYP3A5). Patients who carried the NCF4 rs1883112 GG genotype showed significantly shorter progression-free survival (PFS) (P = 0.023) and event-free survival (EFS) (P < 0.001) comparing with A allele...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938543/predictive-clinical-model-of-tumor-response-after-chemoradiation-in-rectal-cancer
#11
Marisa D Santos, Cristina Silva, Anabela Rocha, Carlos Nogueira, Fernando Castro-Poças, António Araujo, Eduarda Matos, Carina Pereira, Rui Medeiros, Carlos Lopes
Survival improvement in rectal cancer treated with neoadjuvant chemoradiotherapy (nCRT) is achieved only if pathological response occurs. Mandard tumor regression grade (TRG) proved to be a valid system to measure nCRT response. The ability to predict tumor response before treatment may significantly have impact the selection of patients for nCRT in rectal cancer. The aim is to identify potential predictive pretreatment factors for Mandard response and build a clinical predictive model design. 167 patients with locally advanced rectal cancer were treated with nCRT and curative surgery...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938476/fetal-and-maternal-genetic-variants-influencing-neonatal-vitamin-d-status
#12
Ketil Størdal, Karl Mårild, German Tapia, Margareta Haugen, Arieh S Cohen, Benedicte A Lie, Lars C Stene
Objective: Several genetic polymorphisms determine vitamin D status. We aimed to estimate the strength of association of established 25-hydroyxvitamin D (25OHD) associated variants in the mother and in the fetus, with 25OHD concentration in newborn umbilical cord plasma. Methods: We randomly selected 578 mother and child dyads from the prospective Norwegian Mother and Child Cohort study (MoBa). 25OHD was assayed in maternal samples taken shortly after delivery and in cord samples...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938457/the-association-of-estrogen-receptor-%C3%AE-gene-variation-with-salt-sensitive-blood-pressure
#13
Worapaka Manosroi, Jia Wei Tan, Chevon M Rariy, Bei Sun, Mark O Goodarzi, Aditi R Saxena, Jonathan S Williams, Luminita H Pojoga, Jessica Lasky-Su, Jinrui Cui, Xiuqing Guo, Kent D Taylor, Yii-Der I Chen, Anny H Xiang, Willa A Hsueh, Leslie J Raffel, Thomas A Buchanan, Jerome I Rotter, Gordon H Williams, Ellen W Seely
Context: Hypertension in young women is uncommon compared to young men and older women. Estrogen appears to protect most women against hypertension with incidence increasing after menopause. Since some premenopausal women develop hypertension, estrogen may play a different role in these women. Genetic variations in the estrogen receptor (ER) are associated with cardiovascular disease. ER-β, encoded by ESR2, is the ER predominantly expressed in vascular smooth muscle. Objective: To determine an association of single nucleotide polymorphisms (SNPs) in ESR2 with salt-sensitivity of blood pressure (SSBP) and estrogen status in women...
September 5, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938454/11%C3%AE-hsd2-sumoylation-modulates-cortisol-induced-mineralocorticoid-receptor-nuclear-translocation-independently-of-effects-on-transactivation
#14
Rubén Jiménez-Canino, Fabián Lorenzo-Díaz, Alex Odermatt, Matthew A Bailey, Dawn E W Livingstone, Frederic Jaisser, Nicolette Farman, Diego Alvarez de la Rosa
The enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) has an essential role in aldosterone target tissues, conferring aldosterone selectivity for the mineralocorticoid receptor (MR) by converting 11β-hydroxyglucocorticoids to inactive 11-ketosteroids. Congenital deficiency of 11β-HSD2 causes a form of salt-sensitive hypertension known as the syndrome of apparent mineralocorticoid excess. The disease phenotype, which ranges from mild to severe, correlates well with reduction in enzyme activity. Furthermore, polymorphisms in the 11β-HSD2 coding gene (HSD11B2) have been linked to high blood pressure and salt-sensitivity, major cardiovascular risk factors...
September 15, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938222/inter-hemispherical-asymmetry-in-default-mode-functional-connectivity-and-baiap2-gene-are-associated-with-anger-expression-in-adhd-adults
#15
R Hasler, M G Preti, D E Meskaldji, J Prados, W Adouan, C Rodriguez, S Toma, N Hiller, T Ismaili, J Hofmeister, I Sinanaj, P Baud, S Haller, P Giannakopoulos, S Schwartz, N Perroud, D Van De Ville
Attention deficit hyperactivity disorder (ADHD) is accompanied by resting-state alterations, including abnormal activity, connectivity and asymmetry of the default-mode network (DMN). Concurrently, recent studies suggested a link between ADHD and the presence of polymorphisms within the gene BAIAP2 (i.e., brain-specific angiogenesis inhibitor 1-associated protein 2), known to be differentially expressed in brain hemispheres. The clinical and neuroimaging correlates of this polymorphism are still unknown. We investigated the association between BAIAP2 polymorphisms and DMN functional connectivity (FC) asymmetry as well as behavioral measures in ADHD adults...
September 12, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28938190/phytobeds-with-fimbristylis-dichotoma-and-ammannia-baccifera-for-treatment-of-real-textile-effluent-an-in-situ-treatment-anatomical-studies-and-toxicity-evaluation
#16
Suhas K Kadam, Vishal V Chandanshive, Niraj R Rane, Swapnil M Patil, Avinash R Gholave, Rahul V Khandare, Amrut R Bhosale, Byong-Hun Jeon, Sanjay P Govindwar
Fimbristylis dichotoma, Ammannia baccifera and their co-plantation consortium FA independently degraded Methyl Orange, simulated dye mixture and real textile effluent. Wild plants of F. dichotoma and A. baccifera with equal biomass showed 91% and 89% decolorization of Methyl Orange within 60h at a concentration of 50ppm, while 95% dye removal was achieved by consortium FA within 48h. Floating phyto-beds with co-plantation (F. dichotoma and A. baccifera) for the treatment of real textile effluent in a constructed wetland was observed to be more efficient and achieved 79%, 72%, 77%, 66% and 56% reductions in ADMI color value, COD, BOD, TDS and TSS of textile effluent, respectively...
September 19, 2017: Environmental Research
https://www.readbyqxmd.com/read/28938154/massively-parallel-sequencing-of-forensic-strs-and-snps-using-the-illumina-%C3%A2-forenseq%C3%A2-dna-signature-prep-kit-on-the-miseq-fgx%C3%A2-forensic-genomics-system
#17
Fei Guo, Jiao Yu, Lu Zhang, Jun Li
The ForenSeq™ DNA Signature Prep Kit (ForenSeq Kit) is designed to detect more than 200 forensically relevant markers in a single reaction on the MiSeq FGx™ Forensic Genomics System (MiSeq FGx System), including Amelogenin, 27 autosomal short tandem repeats (A-STRs), 7 X chromosomal STRs (X-STRs), 24 Y chromosomal STRs (Y-STRs) and 94 identity-informative single nucleotide polymorphisms (iSNPs) with the option to contain 22 phenotypic-informative SNPs (pSNPs) and 56 ancestry-informative SNPs (aSNPs). In this study, we evaluated the MiSeq FGx System on three major parts: methodological optimization (DNA extraction, sample quantification, library normalization, diluted libraries concentration, and sample-to-cell arrangement), massively parallel sequencing (MPS) performance (depth of coverage, sequence coverage ratio, and allele coverage ratio), and ForenSeq Kit characteristics (repeatability and concordance, sensitivity, mixture, stability and case-type samples)...
September 8, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28938149/the-genetic-influence-in-fluorosis
#18
REVIEW
Sreemanta Pramanik, Depanwita Saha
Fluorosis, caused by ingestion of excess fluoride, is endemic in at least 25 countries across the globe, China and India being the worst affected among them. Dental, skeletal and non-skeletal are the major types of fluorosis affecting millions of people in these countries. A number of genetic epidemiological studies carried out by investigators have shown the evidence for association between genetic polymorphisms in candidate genes and differences in the susceptibility pattern of different types of fluorosis among individuals living in the same community and having the same environmental exposure...
September 15, 2017: Environmental Toxicology and Pharmacology
https://www.readbyqxmd.com/read/28938133/genetic-polymorphisms-for-19-x-str-loci-of-sichuan-han-ethnicity-and-its-comparison-with-chinese-populations
#19
Guanglin He, Ye Li, Xing Zou, Mengge Wang, Pengyu Chen, Miao Liao, Jin Wu
X-chromosomal short tandem repeats (X-STRs) can be serviced as a complementary tool in forensic deficiency cases and other complicated kinship identification. To investigate the genetic variation of the western Chinese Han population, genetic polymorphisms of 19 X-STR loci (DXS8378, DXS7423, DXS10148, DXS10159, DXS10134, DXS7424, DXS10164, DXS10162, DXS7132, DXS10079, DXS6789, DXS101, DXS10103, DXS10101, HPRTB, DXS6809, DXS10075, DXS10074 and DXS10135) included in the AGCU X19 PCR amplification kit were obtained from 201 Chinese Han individuals (108 females and 93 males) residing in Sichuan province, western China...
September 15, 2017: Legal Medicine
https://www.readbyqxmd.com/read/28937897/the-role-of-genetic-factors-in-the-outbreak-mechanism-of-dental-caries
#20
Junko Shimomura-Kuroki, Tomoko Nashida, Yukio Miyagawa, Tsuneo Sekimoto
OBJECTIVE: The aim of the present study was to investigate the relationships between cariogenic bacterial infection and single nucleotide polymorphisms (SNPs) in candidate genes associated with dental caries, and to explore the factors related to caries in children. STUDY DESIGN: Children aged 3 to 11 years were selected. Detection of cariogenic bacteria (Streptococcus mutans, Streptococcus oralis, Streptococcus sobrinus and Lactobacillus) from the plaque of each patient, and SNP analyses of five candidate genes (MBL2, TAS2R38, GLUT2, MMP13 and CA6) were performed using DNA isolated from buccal mucosal cells...
September 22, 2017: Journal of Clinical Pediatric Dentistry
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