keyword
MENU ▼
Read by QxMD icon Read
search

SNP p

keyword
https://www.readbyqxmd.com/read/28214367/population-genetic-structure-and-adaptation-of-malaria-parasites-on-the-edge-of-endemic-distribution
#1
Craig W Duffy, Hampate Ba, Samuel Assefa, Ambroise D Ahouidi, Yacine B Deh, Abderahmane Tandia, Freja C M Kirsebom, Dominic P Kwiatkowski, David J Conway
To determine whether the major human malaria parasite Plasmodium falciparum exhibits fragmented population structure or local adaptation at the northern limit of its African distribution where the dry Sahel zone meets the Sahara, samples were collected from diverse locations within Mauritania over a range of ~ 1000 kilometres. Microsatellite genotypes were obtained for 203 clinical infection samples from eight locations, and Illumina paired-end sequences were obtained to yield high coverage genome-wide single nucleotide polymorphism (SNP) data for 65 clinical infection samples from four locations...
February 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28213955/the-skin-barrier-function-gene-spink5-is-associated-with-challenge-proven-ige-mediated-food-allergy-in-infants
#2
Sarah E Ashley, Hern-Tze Tina Tan, Peter Vuillermin, Shyamali C Dharmage, Mimi L K Tang, Jennifer Koplin, Lyle C Gurrin, Adrian Lowe, Caroline Lodge, Anne-Louise Ponsonby, John Molloy, Pamela Martin, Melanie C Matheson, Richard Saffery, Katrina J Allen, Justine A Ellis, David Martino
BACKGROUND: A defective skin barrier is hypothesised to be an important route of sensitisation to dietary antigens, and may lead to food allergy in some children. Missense mutations in the Serine peptidase inhibitor kazal type 5 (SPINK5) skin barrier gene have previously been associated with allergic conditions. OBJECTIVE: To determine whether genetic variants in and around SPINK5 are associated with IgE mediated food allergy. METHOD: We genotyped 71 'tag' single nucleotide polymorphisms (tag-SNPs) within a region spanning ~263 kilobases (kb) including SPINK5 (~61kb) in n=722 (n=367 food allergic, n=199 food sensitised, tolerant and n=156 non-food allergic controls) 12-month infants (discovery sample) phenotyped for food allergy with the gold standard oral food challenge (OFC)...
February 18, 2017: Allergy
https://www.readbyqxmd.com/read/28213371/polygenic-risk-scores-in-familial-alzheimer-disease
#3
Giuseppe Tosto, Thomas D Bird, Debby Tsuang, David A Bennett, Bradley F Boeve, Carlos Cruchaga, Kelley Faber, Tatiana M Foroud, Martin Farlow, Alison M Goate, Sarah Bertlesen, Neill R Graff-Radford, Martin Medrano, Rafael Lantigua, Jennifer Manly, Ruth Ottman, Roger Rosenberg, Daniel J Schaid, Nicole Schupf, Yaakov Stern, Robert A Sweet, Richard Mayeux
OBJECTIVE: To investigate the association between a genetic risk score (GRS) and familial late-onset Alzheimer disease (LOAD) and its predictive value in families multiply affected by the disease. METHODS: Using data from the National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease (National Institute on Aging-Late-Onset Alzheimer's Disease Family Study), mixed regression models tested the association of familial LOAD with a GRS based on single nucleotide polymorphisms (SNPs) previously associated with LOAD...
February 17, 2017: Neurology
https://www.readbyqxmd.com/read/28212870/the-174-g-c-interleukin-6-gene-polymorphism-is-associated-with-angiographic-progression-of-coronary-artery-disease-in-a-4-year-period
#4
Konstantinos Toutouzas, Dimitrios Klettas, Nikolaos Anousakis-Vlachochristou, Konstantinos Melidis, Zeta Azilazian, Maria Asimomiti, Antonios Karanasos, Anastasios Spanos, Eleftherios Tsiamis, Petros Nihoyannopoulos, Dimitris Tousoulis
BACKGROUND: Inflammation is the key process underlying the clinical course of coronary artery disease (CAD). C-reactive protein (CRP) and interleukin-6 (IL-6) participate in the pathophysiology and act as biomarkers. We sought to examine whether known single nucleotide polymorphisms (SNPs) impact the progression of CAD, reflecting higher inflammatory activity. METHODS: We retrospectively evaluated coronary angiographies of patients with already established CAD who were re-investigated for stable/unstable angina after a time interval >12 months...
February 14, 2017: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
https://www.readbyqxmd.com/read/28212671/an-adaptive-variant-of-trib2-rs1057001-is-associated-with-higher-expression-levels-of-thermogenic-genes-in-human-subcutaneous-and-visceral-adipose-tissues
#5
Kazuhiro Nakayama, Sadahiko Iwamoto
BACKGROUND: An obesity-related single-nucleotide polymorphism (SNP) of the Tribbles pseudokinase 2 gene (TRIB2) was shown to have underwent adaptive evolution in the last glacial period, suggesting a selective advantage of this SNP in human populations in cold environments. In order to verify this hypothesis, the effect of the TRIB2 SNP on the expression of genes involved in adaptive thermogenesis was tested using messenger RNAs prepared from adipose tissues of Japanese adults. METHODS: Complementary DNA was prepared from subcutaneous adipose tissues (SAT) and visceral adipose tissues (VAT) obtained from 48 Japanese adults...
February 17, 2017: Journal of Physiological Anthropology
https://www.readbyqxmd.com/read/28212542/two-stage-genome-wide-association-study-identifies-a-novel-susceptibility-locus-associated-with-melanoma
#6
Katherine J Ransohoff, Wenting Wu, Hyunje G Cho, Harvind C Chahal, Yuan Lin, Hong-Ji Dai, Christopher I Amos, Jeffrey E Lee, Jean Y Tang, David A Hinds, Jiali Han, Qingyi Wei, Kavita Y Sarin
Genome-wide association studies have identified 21 susceptibility loci associated with melanoma. These loci implicate genes affecting pigmentation, nevus count, telomere maintenance, and DNA repair in melanoma risk. Here, we report the results of a two-stage genome-wide association study of melanoma. The stage 1 discovery phase consisted of 4,842 self-reported melanoma cases and 286,565 controls of European ancestry from the 23andMe research cohort and the stage 2 replication phase consisted of 1,804 melanoma cases and 1,026 controls from the University of Texas M...
February 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212442/ecto-5-nucleotidase-cd73-nt5e-vitamin-d-receptor-and-fgf23-gene-polymorphisms-may-play-a-role-in-the-development-of-calcific-uremic-arteriolopathy-in-dialysis-patients-data-from-the-german-calciphylaxis-registry
#7
Hansjörg Rothe, Vincent Brandenburg, Margot Haun, Barbara Kollerits, Florian Kronenberg, Markus Ketteler, Christoph Wanner
INTRODUCTION: Calciphylaxis/calcific uremic arteriolopathy affects mainly end-stage kidney disease patients but is also associated with malignant disorders such as myeloma, melanoma and breast cancer. Genetic risk factors of calciphylaxis have never been studied before. METHODS: We investigated 10 target genes using a tagging SNP approach: the genes encoding CD73/ ecto-5'-nucleotidase (purinergic pathway), Matrix Gla protein, Fetuin A, Bone Gla protein, VKORC1 (all related to intrinsic calcification inhibition), calcium-sensing receptor, FGF23, Klotho, vitamin D receptor, stanniocalcin 1 (all related to CKD-MBD)...
2017: PloS One
https://www.readbyqxmd.com/read/28211974/whole-exome-sequencing-identified-1-base-pair-novel-deletion-in-bcl2-associated-athanogene-3-bag3-gene-associated-with-severe-dilated-cardiomyopathy-dcm-requiring-heart-transplant-in-multiple-family-members
#8
Muhammad Arshad Rafiq, Ayeshah Chaudhry, Melanie Care, Danna A Spears, Chantal F Morel, Robert M Hamilton
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, the genetic causes are heterogeneous, and include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. We report three severely affected males, in a four-generation pedigree, with DCM phenotype who underwent cardiac transplant. Cardiomegaly with marked biventricular dilation and fibrosis were noticeable histopathological findings...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211499/the-prognostic-value-of-cytotoxic-t-lymphocyte-antigen-4-in-cancers-a-systematic-review-and-meta-analysis
#9
Pingping Hu, Qiqi Liu, Guodong Deng, Jingxin Zhang, Ning Liang, Jian Xie, Jiandong Zhang
The outcomes of studies analyzing the prognostic role of CTLA-4 in cancers are controversial. Therefore, the aim of our meta-analysis was to clarify the correlation between CTLA-4 expression and OS in different cancer cases. Relevant literature was searched using PubMed, EMBASE, Web of Science, and the Cochrane Library. The clinicopathological features, hazard ratio (HR) and 95% confidence intervals (CI) were collected from these studies and were analyzed using Stata version 12.0 software. The pooled HR values showed no significant correlation between CTLA-4 expression levels and OS in relation to tumors (HR: 1...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28211474/dissection-of-genomic-features-and-variations-of-three-pathotypes-of-puccinia-striiformis-through-whole-genome-sequencing
#10
Kanti Kiran, Hukam C Rawal, Himanshu Dubey, R Jaswal, Subhash C Bhardwaj, P Prasad, Dharam Pal, B N Devanna, Tilak R Sharma
Stripe rust of wheat, caused by Puccinia striiformis f. sp. tritici, is one of the important diseases of wheat. We used NGS technologies to generate a draft genome sequence of two highly virulent (46S 119 and 31) and a least virulent (K) pathotypes of P. striiformis from the Indian subcontinent. We generated ~24,000-32,000 sequence contigs (N50;7.4-9.2 kb), which accounted for ~86X-105X sequence depth coverage with an estimated genome size of these pathotypes ranging from 66.2-70.2 Mb. A genome-wide analysis revealed that pathotype 46S 119 might be highly evolved among the three pathotypes in terms of year of detection and prevalence...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28211463/ecological-and-genetic-basis-of-metapopulation-persistence-of-the-glanville-fritillary-butterfly-in-fragmented-landscapes
#11
Ilkka Hanski, Torsti Schulz, Swee Chong Wong, Virpi Ahola, Annukka Ruokolainen, Sami P Ojanen
Ecologists are challenged to construct models of the biological consequences of habitat loss and fragmentation. Here, we use a metapopulation model to predict the distribution of the Glanville fritillary butterfly during 22 years across a large heterogeneous landscape with 4,415 small dry meadows. The majority (74%) of the 125 networks into which the meadows were clustered are below the extinction threshold for long-term persistence. Among the 33 networks above the threshold, spatial configuration and habitat quality rather than the pooled habitat area predict metapopulation size and persistence, but additionally allelic variation in a SNP in the gene Phosphoglucose isomerase (Pgi) explains 30% of variation in metapopulation size...
February 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28210080/il23r-single-nucleotide-polymorphisms-could-be-either-beneficial-or-harmful-in-ulcerative-colitis
#12
Sarah Fischer, Erzsébet Kövesdi, Lili Magyari, Veronika Csöngei, Kinga Hadzsiev, Béla Melegh, Péter Hegyi, Patrícia Sarlós
AIM: To investigate the association of seven single nucleotide polymorphisms (SNPs) of the IL23R gene with the clinical picture of ulcerative colitis (UC). METHODS: Genomic DNA samples of 131 patients (66 males, 65 females, mean age 55.4 ± 15.8 years) with Caucasian origin, diagnosed with UC were investigated. The diagnosis of UC was based on the established clinical, endoscopic, radiological, and histopathological guidelines. DNA was extracted from peripheral blood leukocytes by routine salting out method...
January 21, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28207948/right-sided-aortic-arch-in-the-age-of-microarray
#13
Edward F O'Mahony, Darren P Hutchinson, George McGillivray, Debbie L Nisbet, Ricardo Palma-Dias
OBJECTIVE: For fetuses with a diagnosis of right aortic arch and normal cardiac anatomy we aimed to establish the frequency of chromosomal anomaly diagnosed with SNP microarray analysis, particularly focusing on microduplications or microdeletions which would have gone undetected by conventional karyotyping and 6 probe fish (13,18,21, X,Y, TUPLE). METHOD: Retrospective study of fetal ultrasounds between 2011 and 2016 in an Australian tertiary referral centre. Outcomes of interest were survival and postnatal surgery for vascular ring...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28207947/association-and-expression-of-antigen-processing-gene-psmb8-coding-for-low-molecular-mass-protease-7-lmp7-with-vitiligo-in-north-india-case-control-study
#14
P Dani, N Patnaik, A Singh, A Jaiswal, B Agrawal, A A Kumar, S R Varkhande, A Sharma, U Vaish, P Ghosh, V K Sharma, P Sharma, G Verma, H K Kar, S Gupta, V T Natarajan, R S Gokhale, R Rani
BACKGROUND: Vitiligo is a multifactorial, autoimmune, depigmenting disorder of the skin where aberrant presentation of auto antigens may have a role to play. OBJECTIVES: To study the association of antigen processing genes, PSMB8 and PSMB9 with vitiligo. METHODS: 1320 vitiligo cases (1050 generalized and 270 localized) and 752 normal healthy controls were studied for PSMB9 exon 3 G/A SNP, PSMB8 exon 2 C/A SNP and PSMB8 Intron 6 G/T at 37360 site using PCR-RFLP...
February 16, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28207827/replication-of-snp-associations-with-keratoconus-in-a-czech-cohort
#15
Petra Liskova, Lubica Dudakova, Anna Krepelova, Jiri Klema, Pirro G Hysi
INTRODUCTION: Keratoconus is a relatively frequent disease leading to severe visual impairment. Existing therapies are imperfect and clinical management may benefit from improved understanding of mechanisms leading to this disease. We aim to investigate the replication of 11 single nucleotide polymorphisms (SNPs) with keratoconus. METHODS: SNPs from loci previously found in association with keratoconus were genotyped in 165 keratoconus cases of Caucasian Czech origin (108 males and 57 females) and 193 population and gender-matched controls...
2017: PloS One
https://www.readbyqxmd.com/read/28207326/micro-rna-146a-but-not-irak1-is-associated-with-rheumatoid-arthritis-in-the-tunisian-population
#16
Hana Ben Hassine, Asma Boumiza, Rim Sghiri, Khadija Baccouche, Imen Boussaid, Ahlem Atig, Zahid Shakoor, Elyes Bouajina, Ramzi Zemni
BACKGROUND: Rheumatoid arthritis (RA) is characterized by the production of an array of proinflammatory cytokines through the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) signaling pathway. Interleukin-1 receptor (IL-1R) and Toll-like receptors contain a common cytoplasmic motif the Toll/IL-1R (TIR) homology domain. This motif is required for NF-κB activation. IL-1R-associated kinase 1 (IRAK1) is a key adapter molecule recruited during the signaling cascade of the TIR...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28207300/single-nucleotide-rs760370-polymorphism-at-the-main-ribavirin-transporter-gene-detection-by-pcr-rflp-assay-compared-with-the-taqman-assay-and-its-relation-to-sustained-virological-response-in-chronic-hcv-patients-treated-with-pegylated-interferon-ribavirin
#17
Rabab Fouad, Khaled Zachariah, Marwa Khairy, Mervat Khorshied, Wafaa Ezzat, Marwa M Sheta, Ahmed Heiba
Ribavirin clearly plays a role in chronic hepatitis C treatment response. The equilibrative nucleoside transporter-1 codified by SLC29A1 gene has been associated with ribavirin uptake into hepatocytes and erythrocytes. rs760370A>G single nucleotide polymorphism (SNP) at the SLC29A1 gene may have a role in ribavirin-based regimen treatment response. Accuracy of the polymerase-chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay compared with the TaqMan assay for the detection of the SNP rs760370 at the main ribavirin transporter gene and its relation to sustained virological response in chronic hepatitis C virus (HCV) patients treated with pegylated interferon-ribavirin therapy...
February 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28203683/identification-of-unique-venous-thromboembolism-susceptibility-variants-in-african-americans
#18
John A Heit, Sebastian M Armasu, Bryan M McCauley, Iftikhar J Kullo, Hugues Sicotte, Jyotishman Pathak, Christopher G Chute, Omri Gottesman, Erwin P Bottinger, Joshua C Denny, Dan M Roden, Rongling Li, Marylyn D Ritchie, Mariza de Andrade
To identify novel single nucleotide polymorphisms (SNPs) associated with venous thromboembolism (VTE) in African-Americans (AAs), we performed a genome-wide association study (GWAS) of VTE in AAs using the Electronic Medical Records and Genomics (eMERGE) Network, comprised of seven sites each with DNA biobanks (total ~39,200 unique DNA samples) with genome-wide SNP data (imputed to 1000 Genomes Project cosmopolitan reference panel) and linked to electronic health records (EHRs). Using a validated EHR-driven phenotype extraction algorithm, we identified VTE cases and controls and tested for an association between each SNP and VTE using unconditional logistic regression, adjusted for age, sex, stroke, site-platform combination and sickle cell risk genotype...
February 16, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28203040/a-case-control-study-of-the-association-between-polymorphisms-in-the-fibrinogen-alpha-chain-gene-and-schizophrenia
#19
Wenwang Rao, Na Zhou, Huiping Zhang, Rui Liu, Shangchao Zhang, Yingying Su, Guang Yang, Yue Ma, Jieping Shi, Yaqin Yu, Qiong Yu
Our previous studies using the mass spectrum analysis provided evidence that fibrinopeptide A (FPA) could be a potential biomarker for schizophrenia diagnosis. We sought further to demonstrate that variants in the fibrinogen alpha chain gene (FGA) coded FPA might confer vulnerability to schizophrenia. 1,145 patients with schizophrenia and 1,016 healthy volunteers from the Han population in Northeast China were recruited. The association of three tag single nucleotide polymorphisms (SNPs) (rs2070011 in the 5'UTR, rs2070016 in intron 4, and rs2070022 in the 3'UTR) in FGA and schizophrenia was examined using a case-control study design...
2017: Disease Markers
https://www.readbyqxmd.com/read/28202549/relationships-between-type-2-diabetes-neuropathy-and-microvascular-dysfunction-evidence-from-patients-with-cryptogenic-axonal-polyneuropathy
#20
Anna L Emanuel, Mariska D Nieuwenhoff, Erica S Klaassen, Ajay Verma, Mark H H Kramer, Rob Strijers, Alexander F J E Vrancken, Etto Eringa, Geert Jan Groeneveld, Erik H Serné
OBJECTIVE: This study investigated whether the relationship between neuropathy and microvascular dysfunction in patients with type 2 diabetes is independent of diabetes-related factors. For this purpose, we compared skin microvascular function in patients with type 2 diabetes with that of patients with cryptogenic axonal polyneuropathy (CAP), a polyneuropathy of unknown etiology. RESEARCH DESIGN AND METHODS: Cross-sectional information was collected from 16 healthy controls (HCs), 16 patients with CAP, 15 patients with type 2 diabetes with polyneuropathy (DPN), and 11 patients with type 2 diabetes without polyneuropathy...
February 15, 2017: Diabetes Care
keyword
keyword
12812
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"