The derived allele of a novel intergenic variant at chromosome 11 associates with lower body mass index and a favorable metabolic phenotype in Greenlanders11번 염색체에 있는 새로운 유전자간 변이의 파생된 대립유전자는 그린랜더의 낮은 체질량 지수 및 유리한 대사 표현형과 관련이 있습니다Research Article Published on 2020-01-242022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] adipose Adipose tissue affected affecting Alaska allele alteration Analysis Arctic association Author Beta biological processe biological processes BMI body mass body mass index body-mass body-mass index cholesterol chromosome chromosome 11 Cohort cohorts contribute derived allele expand Fat mass Frequency G allele G-allele Genetic genetic architecture genetic loci Genetic predisposition Genetic variant genetic variants genome-wide significant HDL-cholesterol identify independent insulin insulin resistance knowledge lean mass measure mechanism Meta-analysis Native obesity performed phenotype physical activity populations remained replicate Replication required risk significantly Stage stage 2 study population target targets the stage tissue traits Treatment Triglyceride variant visceral Waist circumference weight were assessed [DOI] 10.1371/journal.pgen.1008544 PMC 바로가기 [Article Type] Research Article
Variants in ACE2 and TMPRSS2 Genes Are Not Major Determinants of COVID-19 Severity in UK Biobank SubjectsACE2 및 TMPRSS2 유전자의 변이는 영국 바이오뱅크 피험자에서 COVID-19 심각도의 주요 결정 요인이 아닙니다Article Published on 2020-01-012022-09-11 Journal: Human heredity [Category] SARS, 변종, [키워드] ACE2 affecting Analysis carried conducted contribute Control controls COVID-19 COVID-19 severity determinant determine develop DNA sequence Effect effect sizes explain Frequency genetic variants infection with SARS-CoV-2 Major positive rare variant Rare variants Research SARS-CoV-2 sequence sequenced severe disease severe symptom severe symptoms severity statistically significant difference subject subjects tested TMPRSS2 TMPRSS2 protein UK biobank variant variants Variation was obtained [DOI] 10.1159/000515200 PMC 바로가기 [Article Type] Article
Causal relationships between obesity and the leading causes of death in women and men비만과 여성과 남성의 주요 사망 원인 사이의 인과 관계Research Article Published on 2019-10-242022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] adjusted Affect Analysis association blood pressure BMI body mass body mass index cardiometabolic disease cardiometabolic diseases causal relationship causal relationships cause Chronic kidney disease chronic liver disease chronic obstructive chronic obstructive pulmonary disease chronic renal failure Cochran’s Q-test Coronary artery Coronary artery disease death diabete diabetes Diabetes Mellitus disease disease risk downstream Effect etiological Fatty liver fatty liver disease genetic data genetic risk score genetic variants glycemic GRS heart disease higher risk implicated implication increase increased risk indicate instrumental variable instrumental variables investigated involved Kidney disease lung cancer majority mediators men men and women mendelian randomization Mortality Non-alcoholic fatty liver disease non-communicable diseases obesity obstructive pulmonary disease preventative measure public health pulmonary disease renal renal failure risk smoking Still stroke traits type 2 diabete type 2 diabetes UK biobank waist waist-hip ratio Waist-hip-ratio WHR women [DOI] 10.1371/journal.pgen.1008405 PMC 바로가기 [Article Type] Research Article
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected FindingsOriginal Research Published on 2019-10-012024-09-02 Journal: Frontiers in immunology [Category] 대상포진, [키워드] clinical exome sequencing genetic variants mutations next generation sequencing Primary immunodeficiencies TruSight one sequencing panel [DOI] 10.3389/fimmu.2019.02325 PMC 바로가기 [Article Type] Original Research
Genetic determinants of gut microbiota composition and bile acid profiles in mice생쥐의 장내 미생물 조성 및 담즙산 프로필의 유전적 결정인자Research Article Published on 2019-08-292022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] abundance Analysis approach Author Bacterial bile acid bile acids can be used changes in characterized cholic acid distal Diversity Effects eight environmental cue environmental cues experiment fecal Follow-up Gene Expression generate Genetic genetic determinant genetic differences Genetic variant genetic variants Genetic variation genetics Genome genomic region genotypic data Gut gut bacteria gut microbiota composition homeostasis hormone Hormones Host host genetics Human hypothese Hypothesis ileal influence Inter-individual variation Interaction interactions intestinal loci locus mammal mapped mechanism mediation Mediation analysis metabolism metabolites mice microbes Microbial communities microbial community microbiota overlapping plasma produced profile profiles QTL Quantitative quantitative trait locus Slc10a2 strain Strains subsequent sucrose Variation variations while [DOI] 10.1371/journal.pgen.1008073 PMC 바로가기 [Article Type] Research Article
A novel framework for inferring parameters of transmission from viral sequence data바이러스 염기서열 데이터로부터 전파 매개변수를 추론하기 위한 새로운 프레임워크Research Article Published on 2018-10-162022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] Affect alleles Applying approach approaches baseline collected Critical determine Diseases evaluate event events example extension Genetic genetic diversity Genetic variant genetic variants Genome sequence data Host hosts identify independent Infection infections Infectious diseases Inference Influenza Influenza virus inherent Interpretation lifecycle new infection new infections occur other infectious diseases parameter Particle Particles pathogen Pathogens population bottleneck Population genetics provide Quantitative recent sequence Spread statistical analysis Transmissibility Transmission transmitted Viral Viral transmission virulence viruses [DOI] 10.1371/journal.pgen.1007718 PMC 바로가기 [Article Type] Research Article
Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremiaGLS2의 인간 유전적 변이는 복잡한 황색 포도구균 균혈증의 발병과 관련이 있습니다Research Article Published on 2018-10-052022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] activate age allele Analysis association Bacteremia Bacteria Bacterial Blood cells bloodstream Bonferroni correction candidate gene capture cause causes Cell coding variant complex Complication Control correlated CRISPR CRISPR-Cas9 cumulative cumulative effect death eight ENCODE evaluated examined exhibited Exome expression expression level Factor Frequency gene-based analysis gene-expression Genetic genetic factors genetic risk factor Genetic variant genetic variants Genetic variation Genome GLS2 Glutamine growth healthy controls Hospitalization Host Human Human genome immune response individual Infection infections Interaction key factor leukocyte leukocyte activation Logistic regression analysis Macrophage macrophage cells metabolism Microarray missense variant nitric oxide plasma concentration Protein regulate Regulatory Replication risk S . aureus sequence Sequencing Sex significantly significantly lower Staphylococcus aureus susceptible the strongest These cells Transcription variant variants Variation variations WES White blood cell White blood cells wild-type cells [DOI] 10.1371/journal.pgen.1007667 PMC 바로가기 [Article Type] Research Article
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia심실주위 결절성 이형에서 MAP1B의 드 노보 및 유전된 사적 변이체Research Article Published on 2018-05-082022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] abnormality affected allele Analysis arising association Author Brain brain development caused chance Collapsing controls cortical de novo de novo mutation de novo mutations detrimental Diseases disorder driven by ENCODE epilepsy Exome exome sequencing expected explain fetal Genetic genetic risk Genetic variant genetic variants genome-wide significant heterozygous variant identify implicated incomplete penetrance indicate individual initial involved leads list of gene loci loss-of-function malformation MAP1B Migration Mutation Neuron neurons nonsynonymous occur one patient parent parents patients performed predominant Protein responsible sequence sequenced Sequencing the disease the patient transmitted variant variants [DOI] 10.1371/journal.pgen.1007281 PMC 바로가기 [Article Type] Research Article
The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases인간 질병에 대한 단백질 바이오마커에 대한 DNA 메틸화 및 유전적 변이의 상대적 기여도Research Article Published on 2017-09-152022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] adjusted Affect allele alteration analyses analyzed association Biomarker Biomarkers Cancer cardiovascular disease cardiovascular diseases caused copy CXCL11 CXCL9 disease disease pathogenesis disease status disease-associated Diseases DNA methylation DNA methylation level DNA methylation levels driven by Effect effect size effect sizes effective environmental factor environmental factors Epigenetic Evidence expression expression patterns Factor Genes Genetic Genetic variant genetic variants Genetic variation Genome Genome-wide association study genomic position GWAS Human human disease human diseases IL-12 IL-18 Inflammation loci locus Modification MOST NLRC5 overlapped Pathogenesis performed phenotypic Protein risk smoking SNP SNPs trans unique Variation were measured while [DOI] 10.1371/journal.pgen.1007005 PMC 바로가기 [Article Type] Research Article
Defining the genetic susceptibility to cervical neoplasia—A genome-wide association study자궁 경부 종양에 대한 유전적 감수성 정의 - 전체 게놈 연관 연구Research Article Published on 2017-08-142022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] allele amino-acid Antigen approaches association biological basis Cancer cancer development carried cervical cancer Combination complex correlation demonstrated determine determined by DRB1 error foundation Future Genetic genetic loci genetic risk genetic risk score genetic risk scores genetic susceptibility Genetic variant genetic variants Genome-wide association study healthy controls highest HLA HLA alleles HLA haplotype HLA-B HLA-DRB1 host genetics HPV human leukocyte antigen human papillomavirus identify immune immune-related protein immune-related proteins include increased risk indicated Infection inheritance involved leukocyte major histocompatibility complex MHC MHC alleles neoplasia performed pocket Previous studies previous study Prognosis progression Protective residue risk risk factor Risk factors screening methods standard error statistical the major histocompatibility to define Treatment variant women [DOI] 10.1371/journal.pgen.1006866 PMC 바로가기 [Article Type] Research Article