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https://www.readbyqxmd.com/read/28088409/genome-wide-association-analysis-and-pathways-enrichment-for-lactation-persistency-in-canadian-holstein-cattle
#1
D N Do, N Bissonnette, P Lacasse, F Miglior, M Sargolzaei, X Zhao, E M Ibeagha-Awemu
Lactation persistency (LP), defined as the rate of declining milk yield after milk peak, is an economically important trait for dairy cattle. Improving LP is considered a good alternative method for increasing overall milk production because it does not cause the negative energy balance and other health issues that cows experience during peak milk production. However, little is known about the biology of LP. A genome-wide association study (GWAS) and pathway enrichment were used to explore the genetic mechanisms underlying LP...
January 11, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28087982/the-impact-of-ces1-genotypes-on-the-pharmacokinetics-of-methylphenidate-in-healthy-danish-subjects
#2
Claus Stage, Gesche Jürgens, Louise Schow Guski, Ragnar Thomsen, Ditte Bjerre, Laura Ferrero-Miliani, Yassine Kamal Lyauk, Henrik Berg Rasmussen, Kim Dalhoff
AIM: This study investigated the influence of CES1 variations, including the SNP rs71647871 (G143E) and variation in copy number, on the pharmacokinetics of a single oral dose of 10 mg methylphenidate. METHODS: CES1 genotype was obtained from 200 healthy Danish Caucasian volunteers. Based on the genotype, 44 (19 males and 25 females) were invited to participate in an open, prospective trial involving six predefined genotypes: three groups with two, three, and four CES1 copies, respectively; a group of carriers of the CES1 143E allele; a group of individuals homozygous for CES1A1c (CES1VAR); and a group having three CES1 copies, in which the duplication, CES1A2, had increased transcriptional activity...
January 14, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28087289/clinical-utility-and-functional-analysis-of-variants-in-atrial-fibrillation-associated-locus-4q25
#3
Yusuke Ebana, Kouichi Ozaki, Lian Liu, Hitoshi Hachiya, Kenzo Hirao, Mitsuaki Isobe, Michiaki Kubo, Toshihiro Tanaka, Tetsushi Furukawa
BACKGROUND: Chromosome 4q25 has been repeatedly identified as atrial fibrillation (AF)-sensitive locus in multiple genome-wide association studies (GWAS) and is considered to hold some clues to AF pathogenesis. We aimed to investigate the clinical utilities in Japanese and to unveil the function of the 4q25 locus in affecting transcription of adjacent genes. METHODS: We conducted AF GWAS in Japanese population (1382 AF cases and 1478 controls) and the replication panel (1666 AF cases and 1229 controls) with detailed clinical information which showed the acceleration of AF onset...
January 10, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28081215/genome-wide-association-studies-of-multiple-keratinocyte-cancers
#4
Luba M Pardo, Wen-Qing Li, Shih-Jen Hwang, Joris A C Verkouteren, Albert Hofman, André G Uitterlinden, Peter Kraft, Constance Turman, Jiali Han, Eunyoung Cho, Joanne M Murabito, Daniel Levy, Abrar A Qureshi, Tamar Nijsten
There is strong evidence for a role of environmental risk factors involved in susceptibility to develop multiple keratinocyte cancers (mKCs), but whether genes are also involved in mKCs susceptibility has not been thoroughly investigated. We investigated whether single nucleotide polymorphisms (SNPs) are associated with susceptibility for mKCs. A genome-wide association study (GWAS) of 1,666 cases with mKCs and 1,950 cases with single KC (sKCs; controls) from Harvard cohorts (the Nurses' Health Study [NHS], NHS II, and the Health Professionals Follow-Up Study) and the Framingham Heart Study was carried-out using over 8 million SNPs (stage-1)...
2017: PloS One
https://www.readbyqxmd.com/read/28079798/clinical-and-genetic-factors-associated-with-warfarin-maintenance-dose-in-northern-chinese-patients-with-mechanical-heart-valve-replacement
#5
Rui Liu, Jian Cao, Qian Zhang, Xin-Miao Shi, Xiao-Dong Pan, Ran Dong
The effects of genetic variants on warfarin dosing vary among different ethnic groups, especially in the Chinese population. The objective of this study was to recruit patients through a rigorous experimental design and to perform a comprehensive screen to identify gene polymorphisms that may influence warfarin dosing in northern Han Chinese patients with mechanical heart valve replacement. Consenting patients (n = 183) with a stable warfarin dose were included in this study. Ninety-six single nucleotide polymorphisms (SNPs) in 30 genes involved in warfarin pharmacological pathways were genotyped using the Illumina SNP GoldenGate Assay, and their associations with warfarin dosing were assessed using univariate regression analysis with post hoc comparison using least significant difference analysis...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28079670/impact-of-genetic-variation-in-the-vasopressin-1a-receptor-on-the-development-of-organ-failure-in-patients-admitted-for-acute-decompensation-of-liver-cirrhosis
#6
Annarein J C Kerbert, Jelte J Schaapman, Johan J van der Reijden, Àlex Amorós Navarro, Aiden McCormick, Bart van Hoek, Vicente Arroyo, Pere Ginès, Rajiv Jalan, Victor Vargas, Rudolf Stauber, Hein W Verspaget, Minneke J Coenraad
BACKGROUND: Vasopressin receptor-mediated vasoconstriction is considered to be involved in the pathogenesis of organ failure in acute-on-chronic liver failure (ACLF). PATIENTS AND METHODS: We studied the association between six single nucleotide polymorphisms (SNPs) of the vasopressin 1a receptor gene and the development of organ failure in 826 patients admitted for acute decompensation of liver cirrhosis (n=641) or ACLF (n=185). RESULTS: No associations were found for SNPs with the presence of circulatory or renal failure...
January 10, 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28079488/association-analysis-of-ank3-variants-with-bipolar-disorder-in-the-korean-population
#7
Chul-Hyun Cho, Soojin Kim, Dongho Geum, Heon-Jeong Lee
BACKGROUND: Bipolar disorder (BD) is a major psychiatric disorder characterized by alternating mood episodes, including major depressive, hypomanic, and manic episodes. Previous genetic studies of BD have reported several genes as potentially associated with BD. The ANK3 gene has been identified as a possible BD susceptibility gene in genome-wide association analyses. AIMS: The goal of the present study was to evaluate the association of ANK3 variants with BD in the Korean population...
January 12, 2017: Nordic Journal of Psychiatry
https://www.readbyqxmd.com/read/28079472/polymorphisms-of-rps6kb1-and-cd86-associates-with-susceptibility-to-multiple-sclerosis-in-iranian-population
#8
Rasoul Abdollah Zadeh, Nazanin Jalilian, Mohammad Ali Sahraian, Zeinab Kasraian, Mohammad Reza Noori-Daloii
OBJECTIVE:  Multiple sclerosis (MS) is the most prevalent disorder of nervous system inflammation which involves demyelination of spinal cord; this process depends on both environmental and genetic susceptibility factors. In the present study, we examined the association between two SNPs in RPS6KB1 (rs180515) and CD86 (rs9282641) with MS in Iranian population. RPS6KB1gene encodes p70S6K1 protein which plays a key role in mTOR signaling pathway, while CD86 gene codes a membrane protein type I which belongs to immunoglobulin super family act on co-stimulation signaling pathway...
January 12, 2017: Neurological Research
https://www.readbyqxmd.com/read/28079136/snp-rs11185644-of-rxra-gene-is-identified-for-dose-response-variability-to-vitamin-d3-supplementation-a-randomized-clinical-trial
#9
Mingzhi Zhang, Lan-Juan Zhao, Yu Zhou, Rhamee Badr, Patrice Watson, An Ye, Boting Zhou, Jigang Zhang, Hong-Wen Deng, Robert R Recker, Joan M Lappe
The level of serum 25-Hydroxyvitamin D [25(OH)D] has high heritability, suggesting that genes may contribute to variations in serum 25(OH)D level and vitamin D dose-response. As vitamin D deficiency has been linked to numerous diseases, understanding how genetic variation contributes to vitamin D dose-response is important for personalized vitamin D treatment and cost-effective disease prevention. To identify genetic variants responsible for vitamin D status and dose-response, we performed two vitamin D3 and calcium clinical supplementation trials in 2,207 postmenopausal Caucasian women...
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28077070/scopa-and-meta-scopa-software-for-the-analysis-and-aggregation-of-genome-wide-association-studies-of-multiple-correlated-phenotypes
#10
Reedik Mägi, Yury V Suleimanov, Geraldine M Clarke, Marika Kaakinen, Krista Fischer, Inga Prokopenko, Andrew P Morris
BACKGROUND: Genome-wide association studies (GWAS) of single nucleotide polymorphisms (SNPs) have been successful in identifying loci contributing genetic effects to a wide range of complex human diseases and quantitative traits. The traditional approach to GWAS analysis is to consider each phenotype separately, despite the fact that many diseases and quantitative traits are correlated with each other, and often measured in the same sample of individuals. Multivariate analyses of correlated phenotypes have been demonstrated, by simulation, to increase power to detect association with SNPs, and thus may enable improved detection of novel loci contributing to diseases and quantitative traits...
January 11, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28074087/the-genetic-variation-rs6903956-in-the-novel-androgen-dependent-tissue-factor-pathway-inhibitor-regulating-protein-adtrp-gene-is-not-associated-with-levels-of-plasma-coagulation-factors-in-the-singaporean-chinese
#11
Xuling Chang, Hui-Lin Chin, Swee-Chye Quek, Daniel Y T Goh, Rajkumar Dorajoo, Yechiel Friedlander, Chew-Kiat Heng
BACKGROUND: Genome-wide association study (GWAS) has reported that rs6903956 within the first intron of androgen-dependent tissue factor pathway inhibitor (TFPI) regulating protein (ADTRP) gene is associated with coronary artery disease (CAD) risk in the Chinese population. Although ADTRP is believed to be involved in the upregulation of TFPI, the underlying mechanism involved is largely unknown. This study investigated the association of rs6903956 with plasma Factor VII coagulant activity (FVIIc) and fibrinogen levels, which are regulated by TFPI and are independent risk predictors for CAD...
2017: Thrombosis Journal
https://www.readbyqxmd.com/read/28072873/association-study-with-77-snps-confirms-the-robust-role-for-the-rs10830963-g-of-mtnr1b-variant-and-identifies-two-novel-associations-in-gestational-diabetes-mellitus-development
#12
Klara Rosta, Zahra Al-Aissa, Orsolya Hadarits, Jürgen Harreiter, Ákos Nádasdi, Fanni Kelemen, Dagmar Bancher-Todesca, Zsolt Komlósi, László Németh, János Rigó, István Sziller, Anikó Somogyi, Alexandra Kautzky-Willer, Gábor Firneisz
CONTEXT: Genetic variation in human maternal DNA contributes to the susceptibility for development of gestational diabetes mellitus (GDM). OBJECTIVE: We assessed 77 maternal single nucleotide gene polymorphisms (SNPs) for associations with GDM or plasma glucose levels at OGTT in pregnancy. METHODS: 960 pregnant women (after dropouts 820: case/control: m99'WHO: 303/517, IADPSG: 287/533) were enrolled in two countries into this case-control study...
2017: PloS One
https://www.readbyqxmd.com/read/28072414/evidence-for-genetic-heterogeneity-between-clinical-subtypes-of-bipolar-disorder
#13
A W Charney, D M Ruderfer, E A Stahl, J L Moran, K Chambert, R A Belliveau, L Forty, K Gordon-Smith, A Di Florio, P H Lee, E J Bromet, P F Buckley, M A Escamilla, A H Fanous, L J Fochtmann, D S Lehrer, D Malaspina, S R Marder, C P Morley, H Nicolini, D O Perkins, J J Rakofsky, M H Rapaport, H Medeiros, J L Sobell, E K Green, L Backlund, S E Bergen, A Juréus, M Schalling, P Lichtenstein, P Roussos, J A Knowles, I Jones, L A Jones, C M Hultman, R H Perlis, S M Purcell, S A McCarroll, C N Pato, M T Pato, N Craddock, M Landén, J W Smoller, P Sklar
We performed a genome-wide association study of 6447 bipolar disorder (BD) cases and 12 639 controls from the International Cohort Collection for Bipolar Disorder (ICCBD). Meta-analysis was performed with prior results from the Psychiatric Genomics Consortium Bipolar Disorder Working Group for a combined sample of 13 902 cases and 19 279 controls. We identified eight genome-wide significant, associated regions, including a novel associated region on chromosome 10 (rs10884920; P=3.28 × 10(-8)) that includes the brain-enriched cytoskeleton protein adducin 3 (ADD3), a non-coding RNA, and a neuropeptide-specific aminopeptidase P (XPNPEP1)...
January 10, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28070610/automated-tetraploid-genotype-calling-by-hierarchical-clustering
#14
Cari A Schmitz Carley, Joseph J Coombs, David S Douches, Paul C Bethke, Jiwan P Palta, Richard G Novy, Jeffrey B Endelman
New software to make tetraploid genotype calls from SNP array data was developed, which uses hierarchical clustering and multiple F1 populations to calibrate the relationship between signal intensity and allele dosage. SNP arrays are transforming breeding and genetics research for autotetraploids. To fully utilize these arrays, the relationship between signal intensity and allele dosage must be calibrated for each marker. We developed an improved computational method to automate this process, which is provided as the R package ClusterCall...
January 9, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28070124/an-endophenotype-approach-to-the-genetics-of-alcohol-dependence-a-genome-wide-association-study-of-fast-beta-eeg-in-families-of-african-ancestry
#15
J L Meyers, J Zhang, J C Wang, J Su, S I Kuo, M Kapoor, L Wetherill, S Bertelsen, D Lai, J E Salvatore, C Kamarajan, D Chorlian, A Agrawal, L Almasy, L Bauer, K K Bucholz, G Chan, V Hesselbrock, L Koganti, J Kramer, S Kuperman, N Manz, A Pandey, M Seay, D Scott, R E Taylor, D M Dick, H J Edenberg, A Goate, T Foroud, B Porjesz
Fast beta (20-28 Hz) electroencephalogram (EEG) oscillatory activity may be a useful endophenotype for studying the genetics of disorders characterized by neural hyperexcitability, including substance use disorders (SUDs). However, the genetic underpinnings of fast beta EEG have not previously been studied in a population of African-American ancestry (AA). In a sample of 2382 AA individuals from 482 families drawn from the Collaborative Study on the Genetics of Alcoholism (COGA), we performed a genome-wide association study (GWAS) on resting-state fast beta EEG power...
January 10, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28069809/the-receptor-interacting-serine-threonine-protein-kinase-1-ripk1-regulates-progranulin-levels
#16
Amanda R Mason, Lisa P Elia, Steven Finkbeiner
Progranulin (PGRN), a secreted growth factor, is a key regulator of inflammation and is genetically linked to two common and devastating neurodegenerative diseases. Haploinsufficiency mutations in GRN, the gene encoding PGRN, cause frontotemporal dementia (FTD) and a GRN SNP confers significantly increased risk for Alzheimer's disease (AD). Because cellular and animal data indicate that increasing PGRN can reverse phenotypes of both FTD and AD, modulating PGRN level has been proposed as a therapeutic strategy for both diseases...
January 9, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28069446/rich2-is-implicated-in-viraemic-control-of-hiv-1-in-black-south-african-individuals
#17
Maria Paximadis, Refilwe N Ngqobe, Richard E Chaisson, Neil A Martinson, Caroline T Tiemessen
An intronic single nucleotide polymorphism (SNP) in RICH2 (rs2072255; 255(i)), in complete linkage disequilibrium (LD) with an exonic SNP (rs2072254; 254(e)), has been identified in a genome wide association study to be associated with progression to AIDS in Caucasian individuals. RICH2 links tetherin to the cortical actin network and the RICH2/tetherin interaction has been shown to be important for the downstream activation of NF-κβ and the consequential promotion of proinflammatory responses. We investigated the role of these two SNPs in natural control of HIV-1 in black South Africans including healthy controls (HCs; N=102) and antiretroviral-naive HIV-1-infected controllers (HICs; N=52) and progressors (N=74)...
January 6, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28068661/single-nucleotide-polymorphisms-in-adiponectin-gene-are-not-directly-associated-with-increased-risk-of-obstructive-sleep-apnea-syndrome-in-a-chinese-han-population
#18
Wenjuan Wu, Zhijun Li, Tingyu Tang, Liang Gu, Jianzong Du, Tian Zhao, Xiaoxi Zhou, Qingdong Huang
PURPOSE: This study aims to test the possible correlation between single nucleotide polymorphisms (SNPs) in the adiponectin gene and increased risk of obstructive sleep apnea syndrome (OSAS) in a Chinese Han population. MATERIALS AND METHODS: A total of 266 subjects were enrolled into the study to detect 9 SNPs in the adiponectin gene. Multivariate unconditional logistic regression analysis, adjusted for gender and age, was used to estimate the associations of these SNPs with OSAS risk...
January 10, 2017: ORL; Journal for Oto-rhino-laryngology and its related Specialties
https://www.readbyqxmd.com/read/28068531/forensic-data-and-microvariant-sequence-characterization-of-27-y-str-loci-analyzed-in-four-eastern-african-countries
#19
Giuseppe Iacovacci, Eugenia D'Atanasio, Ornella Marini, Alfredo Coppa, Daniele Sellitto, Beniamino Trombetta, Andrea Berti, Fulvio Cruciani
By using the recently introduced 6-dye Yfiler(®) Plus multiplex, we analyzed 462 males belonging to 20 ethnic groups from four eastern African countries (Eritrea, Ethiopia, Djibouti and Kenya). Through a Y-STR sequence analysis, combined with 62 SNP-based haplogroup information, we were able to classify observed microvariant alleles at four Y-STR loci as either monophyletic (DYF387S1 and DYS458) or recurrent (DYS449 and DYS627). We found evidence of non-allelic gene conversion among paralogous STRs of the two-copy locus DYF387S1...
December 29, 2016: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28068153/prediction-of-fibrosis-progression-rate-in-patients-with-chronic-hepatitis-c-genotype-4-role-of-cirrhosis-risk-score-and-host-factors
#20
Tarek Besheer, Mahmoud El-Bendary, Hatem Elalfy, Mohamed Abd El-Maksoud, Mohamed Salah, Khaled Zalata, Wagdi Elkashef, Heba Elshahawy, Doaa Raafat, Wafaa Elemshaty, Noha Almashad, Hosam Zaghloul, Abdel-Hady El-Gilany, Ahmed Abdel Khalek Abdel Razek, Mohamed Abd Elwahab
The rate of liver fibrosis progression in chronic hepatitis C (CHC) patients is highly variable and affected by different factors. This study aimed to assess the role of cirrhosis risk score (CRS) based on 7 genetic variants (7 single-nucleotide polymorphisms [SNPs]) and host factors (age and sex) in the prediction of the rate of fibrosis progression in CHC. Duration of infection was determined in 115 patients. The fibrosis progression rate (FPR) per year was calculated as the ratio between fibrosis stage and the duration of infection...
January 9, 2017: Journal of Interferon & Cytokine Research
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