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https://www.readbyqxmd.com/read/29454095/an-esophageal-adenocarcinoma-susceptibility-locus-at-9q22-also-confers-risk-to-esophageal-squamous-cell-carcinoma-by-regulating-the-function-of-barx1
#1
Caiwang Yan, Yong Ji, Tongtong Huang, Fei Yu, Yong Gao, Yayun Gu, Qi Qi, Jiangbo Du, Juncheng Dai, Hongxia Ma, Guangfu Jin
Genome wide association studies (GWAS) have identified a series of genetic variants associated with the risk of esophageal adenocarcinoma (EAC)/Barrett's esophagus (BE), which was different from those loci for esophageal squamous cell carcinoma (ESCC). It is important to evaluate whether these susceptibility loci for EAC/BE are also implicated in ESCC development. In the current study, we analyzed genetic variants at 3p13, 9q22, 16q24 and 19p13 in a case-control study including 2139 ESCC patients and 2463 cancer-free controls in a Chinese population, and further characterized the biological relevance of genetic variants by functional assays...
February 14, 2018: Cancer Letters
https://www.readbyqxmd.com/read/29454086/high-prevalence-of-factor-v-leiden-and-prothrombin-g20101a-mutations-in-kashmiri-patients-with-venous-thromboembolism
#2
Syed Shafia, Mahrukh H Zargar, Nabeela Khan, Rehana Ahmad, Zafar Amin Shah, Ravouf Asimi
AIM: The genetic variants of the factor V (G1691A), prothrombin (G20210A) and MTHFR (C677T) genes have been widely implicated as inherited risk factors for developing venous thrombosis. This study was undertaken to reveal the frequency of these mutations in Kashmiri patients with venous thromboembolism. METHODOLOGY: A case-control study was designed with 250 VTE patients and 250 healthy controls. The mutations were analysed using ARMS-PCR and PCR-RFLP approach. RESULT: The factor V Leiden G1691A mutation was found in 17/250 (6...
February 14, 2018: Gene
https://www.readbyqxmd.com/read/29454070/association-of-polymorphic-variants-of-il-1%C3%AE-and-il-1rn-genes-in-the-development-of-graves-disease-in-kashmiri-population-north-india
#3
Faheem Shehjar, Dil Afroze, Raiz A Misgar, Sajad A Malik, Bashir A Laway
PURPOSE: Graves' disease (GD) is a multigenic, organ specific autoimmune disorder with a strong genetic predisposition and IL-1β has been shown to be involved in its pathogenesis. The present study was aimed to determine the genetic associations between polymorphisms of IL-1β gene promoter region (-511T>C) (rs16944), exon 5 (+3954C>T) (rs1143634) and IL-1RN gene VNTR (rs2234663) polymorphism in patients with GD in ethnic Kashmiri population. METHODS: A total of 135 Graves' disease patients and 150 healthy individuals were included in the study...
February 14, 2018: Human Immunology
https://www.readbyqxmd.com/read/29454026/adaptation-of-escherichia-coli-to-long-term-batch-culture-in-various-rich-media
#4
Lacey L Westphal, Jasmine Lau, Zuly Negro, Ivan J Moreno, Wazim Ismail Mohammed, Heewook Lee, Haixu Tang, Steven E Finkel, Karin E Kram
Experimental evolution studies have characterized the genetic strategies microbes utilize to adapt to their environments, mainly focusing on how microbes adapt to constant and/or defined environments. Using a system that incubates Escherichia coli in different complex media in long-term batch culture, we have focused on how heterogeneity and environment affects adaptive landscapes. In this system, there is no passaging of cells, and therefore genetic diversity is lost only through negative selection, without the experimentally-imposed bottlenecking common in other platforms...
February 14, 2018: Research in Microbiology
https://www.readbyqxmd.com/read/29454018/co-circulation-of-classic-and-novel-astrovirus-strains-in-patients-with-acute-gastroenteritis-in-germany
#5
Sonja Jacobsen, Marina Höhne, Andreas Mas Marques, Klara Beslmüller, C-Thomas Bock, Sandra Niendorf
OBJECTIVES: In order to analyze the molecular epidemiology of human astroviruses (HAstV) in Germany, a retrospective long term study was performed to characterize circulating human astrovirus in patients with acute gastroenteritis in Germany. METHODS: A total of 2877 stool samples, collected between January 2010 and December 2015 from sporadic cases and outbreaks of acute gastroenteritis were retrospectively analyzed for astrovirus. A two step PCR algorithm was developed and used to identify and characterize human astrovirus infections...
February 14, 2018: Journal of Infection
https://www.readbyqxmd.com/read/29453922/a-short-review-of-primary-aldosteronism-in-a-question-and-answer-fashion
#6
Frederick-Anthony Farrugia, Nicolaos Zavras, Georgios Martikos, Panagiotis Tzanetis, Anestis Charalampopoulos, Evangelos P Misiakos, Dimitrios Sotiropoulos, Nikolaos Koliakos
OBJECTIVES: The aim of this study was to present up to date information concerning the diagnosis and treatment of primary aldosteronism (PA). PA is the most common cause of endocrine hypertension. It has been reported up to 24% of selective referred hypertensive patients. METHODS: We did a search in Pub-Med and Google Scholar using the terms: PA, hyperaldosteronism, idiopathic adrenal hyperplasia, diagnosis of PA, mineralocorticoid receptor antagonists, adrenalectomy, and surgery...
January 1, 2018: Endocrine Regulations
https://www.readbyqxmd.com/read/29453526/characterization-of-pm59-a-novel-powdery-mildew-resistance-gene-in-afghanistan-wheat-landrace-pi-181356
#7
Chengcheng Tan, Genqiao Li, Christina Cowger, Brett F Carver, Xiangyang Xu
A new powdery mildew resistance gene, designated Pm59, was identified in Afghanistan wheat landrace PI 181356, and mapped in the terminal region of the long arm of chromosome 7A. Powdery mildew, caused by Blumeria graminis f. sp. tritici (Bgt), is an important foliar disease of wheat worldwide. In the Great Plains of the USA, Bgt isolates virulent to widely used powdery mildew resistance genes, such as Pm3a, were previously identified. The objectives of this study were to characterize the powdery mildew resistance gene in Afghanistan landrace PI 181356, which exhibited high resistance to Bgt isolates collected in southern Great Plains, and identify molecular markers for marker-assisted selection...
February 16, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29453499/screening-for-gene-environment-g%C3%A3-e-interaction-using-omics-data-from-exposed-individuals-an-application-to-gene-arsenic-interaction
#8
Maria Argos, Lin Tong, Shantanu Roy, Mekala Sabarinathan, Alauddin Ahmed, Md Tariqul Islam, Tariqul Islam, Muhammad Rakibuz-Zaman, Golam Sarwar, Hasan Shahriar, Mahfuzar Rahman, Md Yunus, Joseph H Graziano, Farzana Jasmine, Muhammad G Kibriya, Xiang Zhou, Habibul Ahsan, Brandon L Pierce
Identifying gene-environment interactions is a central challenge in the quest to understand susceptibility to complex, multi-factorial diseases. Developing an understanding of how inter-individual variability in inherited genetic variation alters the effects of environmental exposures will enhance our knowledge of disease mechanisms and improve our ability to predict disease and target interventions to high-risk sub-populations. Limited progress has been made identifying gene-environment interactions in the epidemiological setting using existing statistical approaches for genome-wide searches for interaction...
February 16, 2018: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/29453494/population-genetic-data-of-investigator-hdplex-markers-in-han-population-from-southern-china
#9
Qiuling Liu, Hailun Nan, Xin He, Weiwei Wu, Dejian Lu
Allele frequencies and forensic statistical parameters for 12 STRs contained in the Investigator HDplex Kit (D2S1360, D3S1744, D4S2366, D5S2500, SE33, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D18S51, and D21S2055) were estimated from a sample of 503 unrelated individuals from the Guangdong Han population of South China. No significant departure from the Hardy-Weinberg equilibrium or genetic linkage disequilibrium was observed (after Bonferroni correction). The expected heterozygosity ranged from 0.6411 to 0...
February 17, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29453424/genetic-control-and-evolutionary-potential-of-a-constitutive-resistance-mechanism-against-the-spruce-budworm-choristoneura-fumiferana-in-white-spruce-picea-glauca
#10
Claudia Méndez-Espinoza, Geneviève J Parent, Patrick Lenz, André Rainville, Laurence Tremblay, Greg Adams, Andrew McCartney, Éric Bauce, John MacKay
Insect herbivory may drive evolution by selecting for trees with heritable resistance against defoliation. The spruce budworm (Choristoneura fumiferana, SBW) is a highly damaging forest insect pest that can affect population structure of white spruce (Picea glauca) in North America. Resistance against SBW was recently described in white spruce and was linked to three constitutive resistance biomarkers: the phenolic compounds piceol and pungenol, and expression of a beta-glucosidase encoding gene (Pgβglu-1)...
February 17, 2018: Heredity
https://www.readbyqxmd.com/read/29453378/phenotypic-plasticity-vs-local-adaptation-in-quantitative-traits-differences-of-stipa-grandis-in-semi-arid-steppe-china
#11
Shao-Bo Gao, Li-Dong Mo, Li-Hong Zhang, Jian-Li Zhang, Jian-Bo Wu, Jin-Long Wang, Nian-Xi Zhao, Yu-Bao Gao
Whether plants are able to adapt to environmental changes depends on their genetic characteristics and phenotypic plastic responses. We investigated the phenotypic responses of 7 populations of an important dominant species in semi-arid steppe of China - Stipa grandis, and then distinguished which adaptive mechanism(s), phenotypic plasticity or local adaptation, was/were involved in this species to adapt to environmental changes. (1) All traits were significantly influenced by the interaction of population and growth condition and by population in each condition, and inter-population variability (CV inter ) was larger in the field than in the common garden for 8/9 traits, indicating that both phenotypic plasticity and genetic differentiation controlled the phenotypic differences of S...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29453277/editing-out-five-serpina1-paralogs-to-create-a-mouse-model-of-genetic-emphysema
#12
Florie Borel, Huaming Sun, Marina Zieger, Andrew Cox, Brynn Cardozo, Weiying Li, Gabriella Oliveira, Airiel Davis, Alisha Gruntman, Terence R Flotte, Michael H Brodsky, Andrew M Hoffman, Mai K Elmallah, Christian Mueller
Chronic obstructive pulmonary disease affects 10% of the worldwide population, and the leading genetic cause is α-1 antitrypsin (AAT) deficiency. Due to the complexity of the murine locus, which includes up to six Serpina1 paralogs, no genetic animal model of the disease has been successfully generated until now. Here we create a quintuple Serpina1a-e knockout using CRISPR/Cas9-mediated genome editing. The phenotype recapitulates the human disease phenotype, i.e., absence of hepatic and circulating AAT translates functionally to a reduced capacity to inhibit neutrophil elastase...
February 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29453274/select-and-resequence-reveals-relative-fitness-of-bacteria-in-symbiotic-and-free-living-environments
#13
Liana T Burghardt, Brendan Epstein, Joseph Guhlin, Matt S Nelson, Margaret R Taylor, Nevin D Young, Michael J Sadowsky, Peter Tiffin
Assays to accurately estimate relative fitness of bacteria growing in multistrain communities can advance our understanding of how selection shapes diversity within a lineage. Here, we present a variant of the "evolve and resequence" approach both to estimate relative fitness and to identify genetic variants responsible for fitness variation of symbiotic bacteria in free-living and host environments. We demonstrate the utility of this approach by characterizing selection by two plant hosts and in two free-living environments (sterilized soil and liquid media) acting on synthetic communities of the facultatively symbiotic bacterium Ensifer meliloti We find ( i ) selection that hosts exert on rhizobial communities depends on competition among strains, ( ii ) selection is stronger inside hosts than in either free-living environment, and ( iii ) a positive host-dependent relationship between relative strain fitness in multistrain communities and host benefits provided by strains in single-strain experiments...
February 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29453246/yield-of-the-ryr2-genetic-test-in-suspected-catecholaminergic-polymorphic-ventricular-tachycardia-and-implications-for-test-interpretation
#14
Jamie D Kapplinger, Krishna N Pundi, Nicholas B Larson, Thomas E Callis, David J Tester, Hennie Bikker, Arthur A M Wilde, Michael J Ackerman
BACKGROUND: Pathogenic RYR2 variants account for ≈60% of clinically definite cases of catecholaminergic polymorphic ventricular tachycardia. However, the rate of rare benign RYR2 variants identified in the general population remains a challenge for genetic test interpretation. Therefore, we examined the results of the RYR2 genetic test among patients referred for commercial genetic testing and examined factors impacting variant interpretability. METHODS: Frequency and location comparisons were made for RYR2 variants identified among 1355 total patients of varying clinical certainty and 60 706 Exome Aggregation Consortium controls...
February 2018: Circ Genom Precis Med
https://www.readbyqxmd.com/read/29453225/prevalence-of-age-related-macular-degeneration-associated-genetic-risk-factors-and-4-year-progression-data-in-the-irish-population
#15
Emma Connolly, Maedbh Rhatigan, Aisling M O'Halloran, Katherine Alyson Muldrew, Usha Chakravarthy, Mark Cahill, Rose Anne Kenny, Sarah L Doyle
BACKGROUND/AIMS: Age-related macular degeneration (AMD) is estimated to affect 196 million people >50 years old globally. Prevalence of AMD-associated genetic risk factors and rate of disease progression are unknown in Ireland. METHODS: Prevalence of AMD-associated genetic risk variants, complement factor H (CFH) rs1061170, age-related maculopathy susceptibility 2 (ARMS2) rs10490924, component 3 (C3) rs2230199, complement factor B (CFB) rs641153 and superkiller viralicidic activity 2-like (SKIV2L) rs429608 and 4-year progression data in a population-representative cohort (The Irish Longitudinal study on Ageing (TILDA)) were assessed...
February 16, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29453196/genome-wide-association-study-identifies-erbb4-on-2q34-as-a-novel-locus-associated-with-sperm-motility-in-japanese-men
#16
Youichi Sato, Atsushi Tajima, Takehiro Sato, Shiari Nozawa, Miki Yoshiike, Issei Imoto, Aiko Yamauchi, Teruaki Iwamoto
BACKGROUND: The decrease in sperm motility has a potent influence on fertilisation. Sperm motility, represented as the percentage of motile sperm in ejaculated sperms, is influenced by lifestyle habits or environmental factors and by inherited factors. However, genetic factors contributing to individual differences in sperm motility remain unclear. To identify genetic factors that influence human sperm motility, we performed a genome-wide association study (GWAS) of sperm motility. METHODS: A two-stage GWAS was conducted using 811 Japanese men in a discovery stage, followed by a replication study using an additional 779 Japanese men...
February 16, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29452958/brca1-mutation-spectrum-functions-and-therapeutic-strategies-the-story-so-far
#17
REVIEW
Babita Sharma, Raman Preet Kaur, Sonali Raut, Anjana Munshi
BRCA1 gene mutations account for about 25-28% of hereditary Breast Cancer as BRCA1 is included in the category of high penetrance genes. Except for few commonmutations, there is a heterogenous spectrum of BRCA1 mutations in various ethnic groups. 185AGdel and 5382ins Care the most common BRCA1 alterations (founder mutations) which have been identified in most of the population. This review has been compiled with an aim to consolidate the information on genetic variants reported in BRCA1 found in various ethnic groups, their functional implications if known; involvement of BRCA1 in various cellular pathways/processes and potential BRCA1 targeted therapies...
January 8, 2018: Current Problems in Cancer
https://www.readbyqxmd.com/read/29452828/glutamatergic-ventral-pallidal-neurons-modulate-activity-of-the-habenula-tegmental-circuitry-and-constrain-reward-seeking
#18
Jessica Tooley, Lauren Marconi, Jason Bondoc Alipio, Bridget Matikainen-Ankney, Polymnia Georgiou, Alexxai V Kravitz, Meaghan C Creed
BACKGROUND: The ability to appropriately integrate and respond to rewarding and aversive stimuli is essential for survival. The ventral pallidum (VP) plays a critical role in processing both rewarding and aversive stimuli. However, the VP is a heterogeneous structure, and how VP subpopulations integrate into larger reward networks to ultimately modulate these behaviors is not known. We identify a noncanonical population of glutamatergic VP neurons that play a unique role in responding to aversive stimuli and constraining inappropriate reward seeking...
January 12, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29452714/genetic-diversity-and-structure-of-rhizobium-leguminosarum-populations-associated-with-clover-plants-are-influenced-by-local-environmental-variables
#19
Andrei Stefan, Jannick Van Cauwenberghe, Craita M Rosu, Catalina Stedel, Nikolaos E Labrou, Emmanouil Flemetakis, Rodica C Efrose
The identification and conservation of indigenous rhizobia associated with legume plants and their application as biofertilizers is becoming an agricultural worldwide priority. However, little is known about the genetic diversity and phylogeny of rhizobia in Romania. In the present study, the genetic diversity and population composition of Rhizobium leguminosarum symbiovar trifolii isolates from 12 clover plants populations located across two regions in Romania were analyzed. Red clover isolates were phenotypically evaluated and genotyped by sequencing 16S rRNA gene, 16S-23S intergenic spacer, three chromosomal genes (atpD, glnII and recA) and two plasmid genes (nifH and nodA)...
February 3, 2018: Systematic and Applied Microbiology
https://www.readbyqxmd.com/read/29452455/complex-hur-function-in-pancreatic-cancer-cells
#20
REVIEW
Jonathan R Brody, Dan A Dixon
Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers with dismal patient outcomes. The underlying core genetic drivers of disease have been identified in human tumor specimens and described in genetically engineered mouse models. These genetic drivers of PDAC include KRAS signaling, TP53 mutations, and genetic loss of the SMAD4 tumor suppressor protein. Beyond the known mutational landscape of PDAC genomes, alternative disrupted targets that extend beyond conventional genetic mutations have been elusive and understudied in the context of PDAC cell therapeutic resistance and survival...
February 16, 2018: Wiley Interdisciplinary Reviews. RNA
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