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https://www.readbyqxmd.com/read/28431403/association-of-the-vdac3-gene-polymorphism-with-sperm-count-in-han-chinese-population-with-idiopathic-male-infertility
#1
Lianjun Pan, Qingzhen Liu, Jingyun Li, Wei Wu, Xinru Wang, Dan Zhao, Jiehua Ma
Voltage-dependent anion channel (VDAC) is a multifunctional channel protein across the outer mitochondrial membrane of somatic cells and participates in many physiological and pathophysiological processes. Up to now, only a few studies, including our previous studies, showed that VDAC exists in mammalian spermatozoa and is involved in spermatogenesis and sperm functions. There is no report about VDAC genetic variants in germinal tissues or cells. To investigate the possible association between VDAC genetic variants and human sperm quality, we performed semen analysis and variant Genotyping of VDAC3 subtype (rs7004637, rs16891278 and rs6773) of 523 Han-Chinese males with idiopathic infertility respectively by computer assisted semen analysis (CASA) and single nucleotide polymorphism (SNP) Genotyping assay...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28431168/identifying-new-susceptibility-genes-on-dopaminergic-and-serotonergic-pathways-for-the-framing-effect-in-decision-making
#2
Xiaoxue Gao, Jinting Liu, Pingyuan Gong, Junhui Wang, Wan Fang, Hongming Yan, Lusha Zhu, Xiaolin Zhou
The framing effect refers the tendency to be risk-averse when options are presented positively but be risk-seeking when the same options are presented negatively during decision-making. This effect has been found to be modulated by the serotonin transporter gene (SLC6A4) and the catechol-o-methyltransferase gene (COMT) polymorphisms, which are on the dopaminergic and serotonergic pathways and which are associated with affective processing. The current study aimed to identify new genetic variations of genes on dopaminergic and serotonergic pathways that may contribute to individual differences in the susceptibility to framing...
April 19, 2017: Social Cognitive and Affective Neuroscience
https://www.readbyqxmd.com/read/28431132/revealing-the-biochemical-and-genetic-basis-of-colour-variation-in-a-polymorphic-lizard
#3
Claire A McLean, Adrian Lutz, Katrina J Rankin, Devi Stuart-Fox, Adnan Moussalli
Determining the mechanistic and genetic basis of animal coloration is essential to understand the costs and constraints on colour production, and the evolution and maintenance of phenotypic variation. However, genes underlying structural colour and widespread pigment classes apart from melanin remain largely uncharacterised, in part due to restricted taxonomic focus. We combined liquid chromatography-mass spectrometry and RNA-seq gene expression analyses to characterise the pigments and genes associated with skin colour in the polymorphic lizard, Ctenophorus decresii...
April 18, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28430929/promoter-polymorphism-rs886205-genotype-interacts-with-dna-methylation-of-the-aldh2-regulatory-region-in-alcohol-dependence
#4
Hansi Pathak, Helge Frieling, Stefan Bleich, Alexander Glahn, Annemarie Heberlein, Mani Haschemi Nassab, Thomas Hillemacher, Alexandra Burkert, Mathias Rhein
Aims: Aldehyde dehydrogenase 2 (ALDH2) protects cells from ethanol toxicity by metabolizing acetaldehyde. We studied the single nucleotide polymorphism (SNP) rs886205s located between a negative and a positive regulating promoter element in the ALDH2 gene. The negative regulatory region was already associated with differential DNA methylation in the two allele variations of rs886205 SNP. Another CpG island, in the positive regulatory region of the ALDH2 promoter, extends through the SNP rs886205 and a nuclear receptor response element...
May 1, 2017: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/28430897/genetic-variants-associated-with-the-root-system-architecture-of-oilseed-rape-brassica-napus-l-under-contrasting-phosphate-supply
#5
Xiaohua Wang, Yanling Chen, Catherine L Thomas, Guangda Ding, Ping Xu, Dexu Shi, Fabian Grandke, Kemo Jin, Hongmei Cai, Fangsen Xu, Bin Yi, Martin R Broadley, Lei Shi
Breeding crops with ideal root system architecture for efficient absorption of phosphorus is an important strategy to reduce the use of phosphate fertilizers. To investigate genetic variants leading to changes in root system architecture, 405 oilseed rape cultivars were genotyped with a 60K Brassica Infinium SNP array in low and high P environments. A total of 285 single-nucleotide polymorphisms were associated with root system architecture traits at varying phosphorus levels. Nine single-nucleotide polymorphisms corroborate a previous linkage analysis of root system architecture quantitative trait loci in the BnaTNDH population...
April 19, 2017: DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes
https://www.readbyqxmd.com/read/28430712/apolipoprotein-e-variants-and-genetic-susceptibility-to-combat-related-post-traumatic-stress-disorder-a-meta-analysis
#6
Yang Roby
BACKGROUND: Apolipoprotein E (APOE) has recently been studied as a risk factor for association with developing combat-related post-traumatic stress disorder (PTSD) in the military population. These studies have yielded inconsistent findings. The present study carried out a meta-analysis to establish whether the APOE polymorphism confers increased susceptibility to combat-related PTSD. METHODS: PubMed, Medline, Embase, PsycInfo, and Google Scholar were searched for potential publications relating to patients with PTSD in military settings with combat exposure...
April 18, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28430632/association-analysis-of-apo-gene-polymorphisms-with-ischemic-stroke-risk-a-case-control-study-in-a-chinese-han-population
#7
Rongjun Xiao, Shuaiqi Sun, Jiayi Zhang, Yongri Ouyang, Ning Zhang, Min Yang, Tianbo Jin, Ying Xia
This study aimed to assess the association of APO gene polymorphisms and ischemic stroke risk in a Chinese Han population. In this case-control study, we geno-typed 14 single nucleotide polymorphisms (SNPs) in 3 APO genes in 488 cases and 503 controls using Sequenom Mass-ARRAY technology and evaluated their association with ischemic stroke using the χ2 and genetic model analysis. In the allelic model analysis, we determined three SNPs were significantly associated with ischemic stroke: rs693 with a p value of 0...
February 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430629/vascular-endothelial-growth-factor-a-polymorphisms-are-associated-with-increased-risk-of-coronary-heart-disease-a-meta-analysis
#8
Yafeng Wang, Qiuyu Huang, Jianchao Liu, Yanan Wang, Gongfeng Zheng, Ling Lin, Hui Yu, Weifeng Tang, Ziyang Huang
Coronary heart disease (CHD) is a common complex disease resulting from the interaction of multiple environmental and genetic factors. To assess the potential relationship of vascular endothelial growth factor (VEGFA) rs699947 C>A, rs3025039 C>T and rs2010963 G>C polymorphisms with CHD risk, a comprehensive meta-analysis was conducted. A systematic search of EMBASE and PubMed online database for publications on VEGFA polymorphisms and risk of CHD was carried out. Crude Odds ratios (ORs) with their 95% confidence intervals (CIs) were calculated to determine the association...
February 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430620/genetic-association-between-psa-158g-a-polymorphism-and-the-susceptibility-of-benign-prostatic-hyperplasia-a-meta-analysis
#9
REVIEW
Xin-Jun Su, Xian-Tao Zeng, Cheng Fang, Tong-Zu Liu, Xing-Huan Wang
Inconsistency between reported findings on the association of prostate specific antigen (PSA) gene -158G/A polymorphism with benign prostatic hyperplasia (BPH) susceptibility need a meta-analysis to obtain a more accurate conclusion. A systematic search was conducted in electronic databases for the collection of eligible studies on PSA -158G/A polymorphism and BPH susceptibility. Pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were then calculated. 7 case-control studies with 758 cases and 752 controls were included into the present meta-analysis...
February 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430524/mirna-related-polymorphisms-in-mir-423-rs6505162-and-pex6-rs1129186-and-risk-of-esophageal-squamous-cell-carcinoma-in-an-iranian-cohort
#10
Ziba Nariman-Saleh-Fam, Milad Bastami, Mohammad Hossein Somi, Farkhondeh Behjati, Yaser Mansoori, Abdolreza Daraei, Zahra Saadatian, Lida Nariman-Saleh-Fam, Habibollah Mahmoodzadeh, Yashar Makhdoumi, Fatemeh Varshoee Tabrizi, Bahador Ebrahimi-Sharif, Azam Hezarian, Shahnaz Naghashi, Mohammad Reza Abbaszadegan, Javad Tavakkoly-Bazzaz
AIMS: Iran is located in the Asian esophageal cancer belt. It is a high-risk region for esophageal squamous cell carcinoma (ESCC). The extent to which genetic components, especially variants within miRNAs or their binding sites, contribute to risk of ESCC in the region is not yet fully understood. Herein, tests were done on an Iranian cohort to evaluate the association of miRNA-related polymorphisms in miR-423 (rs6505162) and peroxisomal biogenesis factor 6 (PEX6) (rs1129186 within a miR-149-5p-binding site) with risk of ESCC risk...
April 21, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28430395/flower-colour-polymorphism%C3%A2-in-the-mediterranean-basin-occurrence-maintenance-and-implications-for-speciation
#11
REVIEW
E Narbona, H Wang, P L Ortiz, M Arista, E Imbert
Flower colour polymorphism (FCP) is the occurrence of at least two discrete flower colour variants in the same population. Despite a vast body of research concerning the maintenance and evolutionary consequences of FCP, only recently has the spatial variation in morph frequencies among populations been explored. Here we have summarized the biochemical and genetic basis of FCP, the factors that have been proposed to explain their maintenance, and the importance of FCP and its geographic variation in the speciation process...
April 21, 2017: Plant Biology
https://www.readbyqxmd.com/read/28429828/genomic-clustering-of-adaptive-loci-during-parallel-evolution-of-an-australian-wildflower
#12
Federico Roda, Greg M Walter, Rick Nipper, Daniel Ortiz-Barrientos
The buildup of the phenotypic differences that distinguish species has long intrigued biologists. These differences are often inherited as stable polymorphisms that allow the co-segregation of adaptive variation within species, and facilitate the differentiation of complex phenotypes between species. It has been suggested that the clustering of adaptive loci could facilitate this process but evidence is still scarce. Here we used QTL analysis to study the genetic basis of phenotypic differentiation between coastal populations of the Australian wildflower Senecio lautus...
April 21, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28429786/comprehensive-assessment-showed-no-associations-of-variants-at-the-slc10a1-locus-with-susceptibility-to-persistent-hbv-infection-among-southern-chinese
#13
Ying Zhang, Yuanfeng Li, Miantao Wu, Pengbo Cao, Xiaomin Liu, Qian Ren, Yun Zhai, Bobo Xie, Yanling Hu, Zhibin Hu, Jinxin Bei, Jie Ping, Xinyi Liu, Yinghua Yu, Bingqian Guo, Hui Lu, Guanjun Liu, Haitao Zhang, Ying Cui, Zengnan Mo, Hongbing Shen, Yi-Xin Zeng, Fuchu He, Hongxing Zhang, Gangqiao Zhou
The sodium taurocholate cotransporting polypeptide (NTCP) encoded by SLC10A1 was recently demonstrated to be a functional receptor for hepatitis B virus (HBV). The role of SLC10A1 polymorphisms, particularly the Ser267Phe variant (rs2296651) in exon 4, has been frequently investigated in regard to risk of persistent HBV infection. However, these investigations have generated conflicting results. To examine whether common genetic variation at the SLC10A1 locus is associated with risk of persistent HBV infection, haplotype-tagging and imputed single nucleotide polymorphisms (SNPs) were assessed in two case-control sample sets, totally including 2,550 cases (persistently HBV infected subjects, PIs) and 2,124 controls (spontaneously recovered subjects, SRs) of Southern Chinese ancestry...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28429387/the-association-between-ggcx-mir-133-genetic-polymorphisms-and-warfarin-stable-dosage-in-han-chinese-patients-with-mechanical-heart-valve-replacement
#14
X-Y Tang, J Zhang, J Peng, S-L Tan, W Zhang, G-B Song, L-M Liu, C-L Li, H Ren, L Zeng, Z-Q Liu, X-P Chen, X-M Zhou, H-H Zhou, J-X Hu, Z Li
WHAT IS KNOWN AND OBJECTIVE: Warfarin is a widely used anticoagulant with a narrow therapeutic index. Polymorphisms in the VKORC1, CYP2C9 and CYP4F2 genes have been verified to correlate with warfarin stable dosage (WSD). Whether any other genes or variants affect the dosage is unknown. The aim of our study was to investigate the relationship between GGCX, miR-133 variants and the WSD in Han Chinese patients with mechanical heart valve replacement (MHVR). METHODS: A total of 231 patients were enrolled in the study...
April 21, 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/28429350/the-polymorphism-of-xrcc1-and-coronary-artery-disease-risk-a-meta-analysis
#15
S-J Guo, Y-T Zhou, W-Y Liu, Q-N Zuo, X-H Li
OBJECTIVE: Coronary artery disease (CAD) is a life-threatening disease and is caused by various factors, with genetic variation being an important risk factor. The association between X-ray repair cross-complementing group 1 (XRCC1) polymorphisms and CAD has been extensively studied with conflicting results. We performed a meta-analysis to investigate the overall association between XRCC1 polymorphisms and CAD risk. MATERIALS AND METHODS: We searched PubMed and Embase databases until October 19, 2016...
April 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28429283/use-of-hormones-tissue-factors-and-bioengineering-in-the-management-of-hypospadias
#16
Aparajita Mitra, Yogesh Kumar Sarin
Hypospadiology is a rapidly evolving field. Progress in the understanding of how hormonal therapy affects the growth of the phallus has allowed surgeons to optimize the tissues for surgery. But conflicting data from a number of studies and a lack of consensus on drugs, their dosing, mode of delivery and timing of use means that the creation of protocols is unlikely to happen in the near future. Nonetheless, there is a hope and the standardization of scientific reporting will make it easier to compare data at the global level...
April 21, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28429243/slco1b1-polymorphisms-and-plasma-estrone-conjugates-in-postmenopausal-women-with-er-%C3%A2-breast-cancer-genome-wide-association-studies-of-the-estrone-pathway
#17
Tanda M Dudenkov, James N Ingle, Aman U Buzdar, Mark E Robson, Michiaki Kubo, Irada Ibrahim-Zada, Anthony Batzler, Gregory D Jenkins, Tracy L Pietrzak, Erin E Carlson, Poulami Barman, Matthew P Goetz, Donald W Northfelt, Alvaro Moreno-Aspita, Clark V Williard, Krishna R Kalari, Yusuke Nakamura, Liewei Wang, Richard M Weinshilboum
BACKGROUND: Estrone (E1), the major circulating estrogen in postmenopausal women, promotes estrogen-receptor positive (ER+) breast tumor growth and proliferation. Two major reactions contribute to E1 plasma concentrations, aromatase (CYP19A1) catalyzed E1 synthesis from androstenedione and steroid sulfatase (STS) catalyzed hydrolysis of estrone conjugates (E1Cs). E1Cs have been associated with breast cancer risk and may contribute to tumor progression since STS is expressed in breast cancer where its activity exceeds that of aromatase...
April 20, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28429076/-search-for-risk-genes-in-schizophrenia
#18
D Rujescu
BACKGROUND: Schizophrenia is a severe psychiatric disease affecting approximately 0.5-1% of the general population. The relative contribution of genetic factors has been estimated to be 64-81%. OBJECTIVE: This review summarizes recent efforts to identify genetic variants associated with schizophrenia. METHODS: Relevant linkage and candidate genes as well as genome wide association studies, studies on copy number variants and next generation sequencing are presented and discussed...
April 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28428839/population-genomics-meet-lagrangian-simulations-oceanographic-patterns-and-long-larval-duration-ensure-connectivity-among-paracentrotus-lividus-populations-in-the%C3%A2-adriatic-and-ionian-seas
#19
Marta Paterno, Marcello Schiavina, Giorgio Aglieri, Jamila Ben Souissi, Elisa Boscari, Renato Casagrandi, Aurore Chassanite, Mariachiara Chiantore, Leonardo Congiu, Giuseppe Guarnieri, Claudia Kruschel, Vesna Macic, Ilaria A M Marino, Chiara Papetti, Tomaso Patarnello, Lorenzo Zane, Paco Melià
Connectivity between populations influences both their dynamics and the genetic structuring of species. In this study, we explored connectivity patterns of a marine species with long-distance dispersal, the edible common sea urchin Paracentrotus lividus, focusing mainly on the Adriatic-Ionian basins (Central Mediterranean). We applied a multidisciplinary approach integrating population genomics, based on 1,122 single nucleotide polymorphisms (SNPs) obtained from 2b-RAD in 275 samples, with Lagrangian simulations performed with a biophysical model of larval dispersal...
April 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28428775/genomics-reveals-a-unique-clone-of-burkholderia-cenocepacia-harboring-an-actively-excising-novel-genomic-island
#20
Prashant P Patil, Swapna Mali, Samriti Midha, Vikas Gautam, Lona Dash, Sunil Kumar, Jayanthi Shastri, Lipika Singhal, Prabhu B Patil
Burkholderia cenocepacia is a clinically dominant form among the other virulent species of Burkholderia cepacia complex (Bcc). In the present study, we sequenced and analyzed the genomes of seven nosocomial Bcc isolates, five of which were isolated from the bloodstream infections and two isolates were recovered from the hospital setting during the surveillance. Genome-based species identification of the Bcc isolates using a type strain explicitly identified the species as B. cenocepacia. Moreover, single nucleotide polymorphism analysis revealed that the six isolates were clonal and phylogenetically distinct from the other B...
2017: Frontiers in Microbiology
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