Genetic variation – Page 20 – Communicable Diseases Research

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

기능적 변이에 대한 유전적 편협성과 개인 게놈의 해석

Research Article

Published on 2013-08-222022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

Functional IL6R 358Ala Allele Impairs Classical IL-6 Receptor Signaling and Influences Risk of Diverse Inflammatory Diseases

기능성 IL6R 358Ala 대립유전자는 전통적인 IL-6 수용체 신호 전달을 손상시키고 다양한 염증성 질환의 위험에 영향을 미칩니다

Research Article

Published on 2013-04-042022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

[키워드] 358Ala Abdominal aortic aneurysm affecting allele analyzed aortic aneurysm approach Arthritis Asp358Ala association Asthma Atrial fibrillation Author balance benefit Cambridge BioResource causal variant CD4+ T cell CD4+ T cells CHD Chronic diseases circulating cleavage clinical trial clinical trials common diseases complex complex diseases Concentration Control copy Coronary heart disease Critical cytokine diabete diabetes etiology Evidence expression functional Genetic genetic association Genetic variation heart disease human disease identify IL-6 IL-6 receptor IL-6 signaling IL-6R IL-6R signaling IL-6R signaling pathway IL6R Immune cell immune cells impairment implicated implication increase increase in independent Inflammatory Inflammatory responses influence interleukin interleukin-6 isoform mechanism membrane-bound molecular mechanism monocyte Monocytes mononuclear cell mononuclear cells Non-synonymous nucleotide Patient PBMCs Peripheral blood Peripheral blood mononuclear cells Phosphorylation polymorphism Population protein level protein levels RA reduce reduced reduction regulated Regulation rheumatoid arthritis risk rs2228145 Signaling sIL-6R single nucleotide Single nucleotide polymorphism soluble IL-6R Stat1 STAT3 Stimulation suggested surface expression surface receptor susceptibility T cells T1D therapeutic intervention therapy These data Transcription transcription factor transcription factors translate Treatment response Type 1 diabetes variant Variation Volunteer
[DOI] 10.1371/journal.pgen.1003444 PMC 바로가기 [Article Type] Research Article

Interferon-induced transmembrane protein-3 genetic variant rs12252-C is associated with severe influenza in Chinese individuals

Article

Published on 2013-01-292023-06-14
Journal: Nature Communications
[Category] Fulltext, 신종인플루엔자,

[키워드] Genetic variation Influenza virus interferons viral epidemiology
[DOI] 10.1038/ncomms2433 PMC 바로가기 [Article Type] Article

A Mechanism of Gene Amplification Driven by Small DNA Fragments

작은 DNA 조각에 의한 유전자 증폭 메커니즘

Research Article

Published on 2012-12-132022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

[키워드] amplification amplified amplify annealing Author Cancer cancer cell Cancer cells capture cause Cell chromosomal chromosomal DNA chromosomal region contribute copy number degenerative dependent on detected disorders DNA DNA amplification DNA fragment driving duplication Efficiency elevated event events expression Extracellular Factor favor found fragment Frequency gene amplification Genetic variation genomic homology Human increase independent independent of initiated involved loci mechanism molecular molecular mechanism molecular mechanisms nucleotide nucleotides occur oligonucleotide Organisms Patients with cancer polymorphism Rad1 Rad51 Rad52 regions S. cerevisiae Saccharomyces cerevisiae serum single-stranded stimulate Trigger triggered Variation yeast
[DOI] 10.1371/journal.pgen.1003119 PMC 바로가기 [Article Type] Research Article

Genome-Wide Association Studies Reveal a Simple Genetic Basis of Resistance to Naturally Coevolving Viruses in Drosophila melanogaster

Genome-Wide Association Studies는 Drosophila melanogaster에서 자연적으로 공진화하는 바이러스에 대한 저항성의 단순한 유전적 기초를 보여줍니다

Research Article

Published on 2012-11-152022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

[키워드] a major alleles Antiviral appear Author Basis caused DCV disease disease susceptibility Drosophila Drosophila melanogaster explain expression found Frequency fruit Genes Genetic genetic component Genetic variant genetic variants Genetic variation Genome-wide association studies Genome-wide association study GWAS heritability identify inbred line inbred lines individual infect Infected Infectious disease insect Insects knocking down Mutation natural selection Naturally polymorphism Polymorphisms populations resistance resistance to infection RNAi shown simple susceptibility susceptible understanding variant Variation Viral viral infection virus virus resistance viruses
[DOI] 10.1371/journal.pgen.1003057 PMC 바로가기 [Article Type] Research Article

Reduced Lentivirus Susceptibility in Sheep with TMEM154 Mutations

TMEM154 돌연변이가 있는 양의 렌티바이러스 감수성 감소

Research Article

Published on 2012-01-262022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

[키워드] 95% CI Affect affecting age allele Analysis analyzed Author biological function Case-control cause caused coding region Cohort disease domain E35 exceeded expressed Extracellular FIVE form forms frameshift full-length genetic risk factor genetic risk factors Genetic variation Genome-wide association study genome-wide significance Genotype Glutamate greater Haplotype haplotypes help homozygous host immune system identify incurable Infected infected case infected cases Infection isoform lentivirus lysine mechanism Missense multi multiple tissues mutant mutant virus Mutation nine odds of infection Older P -value peptide Pneumonia position predicted primates PROTECT Protein Reinfection Relative risk remained repeated respiratory Retroviral infection risk of infection Sanger sequencing sheep signal peptide single SNP susceptible target The United States TMEM154 transmembrane protein uninfected uninfected control United States Variation were used with infection
[DOI] 10.1371/journal.pgen.1002467 PMC 바로가기 [Article Type] Research Article

Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals

공통 변이체는 매우 작은 개체를 제외하고 분포 꼬리의 키에 대한 예측된 다유전자 효과를 보여줍니다

Research Article

Published on 2011-12-292022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

[키워드] a major allele Author average calculated chance classic cohorts common common disease common variants complex decrease determine discrepancy distribution Effect effect size Effects effort expectation expected explain explained extreme Factor found fraction Frequency Genetic Genetic variant Genetic variation Height Human genome implication include individual individuals less loci low frequency Odds ratio Odds ratios phenotype Phenotypes population-based cohort Predictive quantitative traits short stature show shown significantly stature tail trait traits variant variants Variation whole-exome sequencing whole-genome
[DOI] 10.1371/journal.pgen.1002439 PMC 바로가기 [Article Type] Research Article

Role of Exonic Variation in Chemokine Receptor Genes on AIDS: CCRL2 F167Y Association with Pneumocystis Pneumonia

AIDS에 대한 케모카인 수용체 유전자의 외음성 변이의 역할: 폐포자충과의 CCRL2 F167Y 연관성

Research Article

Published on 2011-10-272022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

[키워드] 95% CI accelerated addition Affect AIDS Amino acid Analysis analysis association associations Atypical Author CCR2 CCR3 CCR5 CCR8 CCRL2 Cell Chemokine receptor chromosome Cluster cohorts conditions CX3CR1 defined dendritic cell disease Disease progression DNA Effect exonic FIVE functional variant functional variants Gene Genes Genetic genetic association Genetic variation genotyped HIV-1 HIV-1 infection host cells Human immune regulation in addition to indicated Inflammation involved key factor lung majority natural history Non-synonymous outcome Pathogenesis Pneumonia progression role Single nucleotide polymorphism single nucleotide polymorphisms SNP SNPs surface protein survival survival analysis tested variant Variation
[DOI] 10.1371/journal.pgen.1002328 PMC 바로가기 [Article Type] Research Article

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

주요 대립 유전자 참조 서열을 사용한 가족 4중주에서의 단계적 전체 게놈 유전적 위험

Research Article

Published on 2011-09-152022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

[키워드] Accuracy allele Analysis approach Author base pairs base pairs) Blood blood clot characterization coding compound heterozygosity contribute contributing to demonstrated develop disease disease risk disease-associated estimation facilitate family Gene genetic determinant genetic determinants genetic information genetic profile genetic risk genetic risk factor genetic risk factors Genetic variation Genome genomes Genotype Haplotype Human human leukocyte antigen identify Interpretation leukocyte loci lowest lung Major median medications methodology nuclear nuclear family occur pharmacological predisposition Pulmonary embolism quantification Quartet Recombination reference reference sequence risk Risk assessment risk for disease sequence Sequencing sequencing error sequencing errors therapy Thrombophilia variant whole-genome sequencing
[DOI] 10.1371/journal.pgen.1002280 PMC 바로가기 [Article Type] Research Article

Invited Commentary: Evaluating Vaccination Programs Using Genetic Sequence Data

Article

Published on 2009-12-152023-06-03
Journal: American journal of epidemiology
[Category] B형 간염,

[키워드] communicable diseases disease notification Disease transmission, infectious Genetic variation Hepatitis B virus molecular sequence data vaccination
[DOI] 10.1093/aje/kwp366 PMC 바로가기