Population genetic analysis of the DARC locus (Duffy) reveals adaptation from standing variation associated with malaria resistance in humansDARC 유전자좌(Duffy)의 인구 유전 분석은 인간의 말라리아 저항성과 관련된 변이로부터 적응을 보여줍니다Research Article Published on 2017-03-102022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] 95% CI admixture African allele allelic Antigen antigen receptor Asia Asian association canonical causative agent Chemokine receptor chemokines Combination complex DARC disease Europe European example fixation Frequency gene encode genetic analysis Genome Haplotype haplotypes Human Human genome Human genomes human populations humans individual Infection Infectious diseases initial involved locus low frequency malaria membrane-bound mode Mutation observation parasite pathogen Pathogens Plasmodium vivax Population populations Positive selection PROTECT receptor red blood cell red blood cells Region reveal selective sequencing data shown signal sub-Saharan Africa subsequent the strongest the timing Variation [DOI] 10.1371/journal.pgen.1006560 PMC 바로가기 [Article Type] Research Article
Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan ChildrenlincRNA의 다형성이 케냐 어린이의 폐렴구균 균혈증 위험 2배와 연관Article Published on 2016-05-262022-08-07 Journal: American Journal of Human Genetics [Category] 유전자 메커니즘, [키워드] 95% CI African Associate association Bacteremia bacteremia case subject bacteremia susceptibility bacterial bloodstream infection Cell cell type children conducted Control control subject control subjects death expression focus Frequency Genome-wide association study healthy Human genetics human infectious disease identification Infant Infectious disease Kenya lincRNA low frequency Neutrophils non-coding RNA occur pneumococcal bacteremia pneumococcal clearance polymorphism Polymorphisms recruited replicated Research Streptococcus pneumoniae sub-Saharan Africa subjects susceptibility susceptibility allele Wellcome Trust [DOI] 10.1016/j.ajhg.2016.03.025 PMC 바로가기 [Article Type] Article
High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms고위험군 분리가 두개내 동맥류에 걸리기 쉬운 저주파 변이를 나타냅니다Research Article Published on 2014-01-302022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] Aneurysm arteries Artery association Author balloon bleeding bottleneck events Brain Case-control cause compared complex complex diseases contribute Control controls develop different disease effect size effect sizes European population events explain explained Families Finn Finnish Finns FIVE fraction frequencies Frequency genetic background Genetic variant Genetic variation genotype imputation GWAS hemorrhage heritability identify incidence Inconclusive Intracranial intracranial aneurysms isolate isolates knowledge lead life-threatening loci locus low frequency MAF matched controls Netherland Netherlands Patient Population populations rare variant Rare variants related replicated rupture saccular stroke Study design Subarachnoid subarachnoid hemorrhage susceptibility tested utility variant variants [DOI] 10.1371/journal.pgen.1004134 PMC 바로가기 [Article Type] Research Article
Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals공통 변이체는 매우 작은 개체를 제외하고 분포 꼬리의 키에 대한 예측된 다유전자 효과를 보여줍니다Research 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
Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease대규모 유전자 중심 분석으로 관상동맥 질환에 대한 새로운 변종 식별Research Article Published on 2011-09-222022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] ABCG5 ABCG8 aetiology Affect allele Analysis array Artery Asians association association tests Author biochemical CAD candidate gene cardiovascular disease cellular characterized COL4A1 COL4A2 common variants complement conducted Control controls Coronary Coronary artery Coronary artery disease custom-designed array customised gene array CYP17A1 disease Effect European Europeans Evidence evidence of examined except for found Frequency function functional variant functional variants Gene Gene Expression Genes Genetic Genetic variant genome-wide association genotyped GWA heart disease help heterogeneity identify IL5 LIPA loci low frequency LPA majority mechanism not differ novel novel association novel associations Odds ratio Potential potential mechanism potential mechanisms replicate Replication reported risk risk factor South South Asian suggested supported susceptibility susceptibility loci target tested therapeutic interventions TRIB1 variant variants Vascular ZC3HC1 [DOI] 10.1371/journal.pgen.1002260 PMC 바로가기 [Article Type] Research Article