메뉴 건너뛰기




Volumn 49, Issue 4, 2017, Pages 600-605

Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOIMMUNE DISEASE; CELIAC DISEASE; CROHN DISEASE; GENE CONTROL; GENE EXPRESSION; HEREDITY; IMMUNOCOMPETENT CELL; INSULIN DEPENDENT DIABETES MELLITUS; MULTIPLE SCLEROSIS; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; RHEUMATOID ARTHRITIS; ULCERATIVE COLITIS; GENE REGULATORY NETWORK; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HUMAN; IMMUNITY; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 85013155806     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3795     Document Type: Article
Times cited : (163)

References (39)
  • 1
    • 84865822182 scopus 로고    scopus 로고
    • Systematic localization of common disease-associated variation in regulatory DNA
    • Maurano, M.T. et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 337, 1190-1195 (2012).
    • (2012) Science , vol.337 , pp. 1190-1195
    • Maurano, M.T.1
  • 2
    • 77957940722 scopus 로고    scopus 로고
    • The NIH roadmap epigenomics mapping consortium
    • Bernstein, B.E. et al. The NIH Roadmap Epigenomics Mapping Consortium. Nat. Biotechnol. 28, 1045-1048 (2010).
    • (2010) Nat. Biotechnol. , vol.28 , pp. 1045-1048
    • Bernstein, B.E.1
  • 3
    • 0033851221 scopus 로고    scopus 로고
    • Autoimmune diseases: A leading cause of death among young and middle-aged women in the United States
    • Walsh, S.J. & Rau, L.M. Autoimmune diseases: a leading cause of death among young and middle-aged women in the United States. Am. J. Public Health 90, 1463-1466 (2000).
    • (2000) Am. J. Public Health , vol.90 , pp. 1463-1466
    • Walsh, S.J.1    Rau, L.M.2
  • 4
    • 85016689634 scopus 로고    scopus 로고
    • Autoimmune Diseases Coordinating Committee (American Autoimmune Related Diseases Association (AARDA) and National Coalition of Autoimmune Patient Groups (NCAPG)
    • Autoimmune Diseases Coordinating Committee. Report of the autoimmune diseases coordinating committee. (American Autoimmune Related Diseases Association (AARDA) and National Coalition of Autoimmune Patient Groups (NCAPG), 2011).
    • (2011) Report of the Autoimmune Diseases Coordinating Committee
  • 5
    • 84937424402 scopus 로고    scopus 로고
    • Disentangling the effects of colocalizing genomic annotations to functionally prioritize non-coding variants within complex-trait loci
    • Trynka, G. et al. Disentangling the effects of colocalizing genomic annotations to functionally prioritize non-coding variants within complex-trait loci. Am. J. Hum. Genet. 97, 139-152 (2015).
    • (2015) Am. J. Hum. Genet. , vol.97 , pp. 139-152
    • Trynka, G.1
  • 6
    • 77951439152 scopus 로고    scopus 로고
    • Trait-associated SNPs are more likely to be eQTLs: Annotation to enhance discovery from GWAS
    • Nicolae, D.L. et al. Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet. 6, e1000888 (2010).
    • (2010) PLoS Genet. , vol.6 , pp. e1000888
    • Nicolae, D.L.1
  • 7
    • 84873086126 scopus 로고    scopus 로고
    • Chromatin marks identify critical cell types for fine mapping complex trait variants
    • Trynka, G. et al. Chromatin marks identify critical cell types for fine mapping complex trait variants. Nat. Genet. 45, 124-130 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 124-130
    • Trynka, G.1
  • 8
    • 84923326765 scopus 로고    scopus 로고
    • Genetic and epigenetic fine mapping of causal autoimmune disease variants
    • Farh, K.K.-H. et al. Genetic and epigenetic fine mapping of causal autoimmune disease variants. Nature 518, 337-343 (2015).
    • (2015) Nature , vol.518 , pp. 337-343
    • Farh, K.K.-H.1
  • 9
    • 84922273141 scopus 로고    scopus 로고
    • Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
    • Gusev, A. et al. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am. J. Hum. Genet. 95, 535-552 (2014).
    • (2014) Am. J. Hum. Genet. , vol.95 , pp. 535-552
    • Gusev, A.1
  • 10
    • 85000443086 scopus 로고    scopus 로고
    • Partitioning heritability by functional annotation using genome-wide association summary statistics
    • Finucane, H.K. et al. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat. Genet. 47, 1228-1235 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 1228-1235
    • Finucane, H.K.1
  • 12
    • 58149330480 scopus 로고    scopus 로고
    • Using gene expression to investigate the genetic basis of complex disorders
    • Nica, A.C. & Dermitzakis, E.T. Using gene expression to investigate the genetic basis of complex disorders. Hum. Mol. Genet. 17, R129-R134 (2008).
    • (2008) Hum. Mol. Genet. , vol.17 , pp. R129-R134
    • Nica, A.C.1    Dermitzakis, E.T.2
  • 13
    • 84901631426 scopus 로고    scopus 로고
    • Bayesian test for colocalisation between pairs of genetic association studies using summary statistics
    • Giambartolomei, C. et al. Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet. 10, e1004383 (2014).
    • (2014) PLoS Genet. , vol.10 , pp. e1004383
    • Giambartolomei, C.1
  • 14
    • 84930422605 scopus 로고    scopus 로고
    • Integration of disease association and eQTL data using a Bayesian colocalisation approach highlights six candidate causal genes in immune-mediated diseases
    • Guo, H. et al. Integration of disease association and eQTL data using a Bayesian colocalisation approach highlights six candidate causal genes in immune-mediated diseases. Hum. Mol. Genet. 24, 3305-3313 (2015).
    • (2015) Hum. Mol. Genet. , vol.24 , pp. 3305-3313
    • Guo, H.1
  • 15
    • 84961927084 scopus 로고    scopus 로고
    • Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
    • Zhu, Z. et al. Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nat. Genet. 48, 481-487 (2016).
    • (2016) Nat. Genet. , vol.48 , pp. 481-487
    • Zhu, Z.1
  • 16
    • 84877256755 scopus 로고    scopus 로고
    • Sherlock: Detecting gene-disease associations by matching patterns of expression QTL and GWAS
    • He, X. et al. Sherlock: detecting gene-disease associations by matching patterns of expression QTL and GWAS. Am. J. Hum. Genet. 92, 667-680 (2013).
    • (2013) Am. J. Hum. Genet. , vol.92 , pp. 667-680
    • He, X.1
  • 17
    • 85003806635 scopus 로고    scopus 로고
    • Colocalization of GWAS and eQTL signals detects target genes
    • Hormozdiari, F. et al. Colocalization of GWAS and eQTL signals detects target genes. Am. J. Hum. Genet. 99, 1245-1260 (2016).
    • (2016) Am. J. Hum. Genet. , vol.99 , pp. 1245-1260
    • Hormozdiari, F.1
  • 18
    • 84885645853 scopus 로고    scopus 로고
    • Transcriptome and genome sequencing uncovers functional variation in humans
    • Lappalainen, T. et al. Transcriptome and genome sequencing uncovers functional variation in humans. Nature 501, 506-511 (2013).
    • (2013) Nature , vol.501 , pp. 506-511
    • Lappalainen, T.1
  • 19
    • 84900338300 scopus 로고    scopus 로고
    • Polarization of the effects of autoimmune and neurodegenerative risk alleles in leukocytes
    • Raj, T. et al. Polarization of the effects of autoimmune and neurodegenerative risk alleles in leukocytes. Science 344, 519-523 (2014).
    • (2014) Science , vol.344 , pp. 519-523
    • Raj, T.1
  • 20
    • 79952256739 scopus 로고    scopus 로고
    • The architecture of gene regulatory variation across multiple human tissues: The MuTHER study
    • Nica, A.C. et al. The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet. 7, e1002003 (2011).
    • (2011) PLoS Genet. , vol.7 , pp. e1002003
    • Nica, A.C.1
  • 21
    • 84933277343 scopus 로고    scopus 로고
    • Statistical colocalization of genetic risk variants for related autoimmune diseases in the context of common controls
    • Fortune, M.D. et al. Statistical colocalization of genetic risk variants for related autoimmune diseases in the context of common controls. Nat. Genet. 47, 839-846 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 839-846
    • Fortune, M.D.1
  • 22
    • 84929932178 scopus 로고    scopus 로고
    • Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants
    • Malik, R. et al. Shared genetic basis for migraine and ischemic stroke: a genome-wide analysis of common variants. Neurology 84, 2132-2145 (2015).
    • (2015) Neurology , vol.84 , pp. 2132-2145
    • Malik, R.1
  • 23
    • 84962516331 scopus 로고    scopus 로고
    • Genetic analysis for a shared biological basis between migraine and coronary artery disease
    • Winsvold, B.S. et al. Genetic analysis for a shared biological basis between migraine and coronary artery disease. Neurol Genet. 1, e10 (2015).
    • (2015) Neurol Genet. , vol.1 , pp. e10
    • Winsvold, B.S.1
  • 24
    • 84968649781 scopus 로고    scopus 로고
    • Detection and interpretation of shared genetic influences on 42 human traits
    • Pickrell, J.K. et al. Detection and interpretation of shared genetic influences on 42 human traits. Nat. Genet. 48, 709-717 (2016).
    • (2016) Nat. Genet. , vol.48 , pp. 709-717
    • Pickrell, J.K.1
  • 25
    • 80052325959 scopus 로고    scopus 로고
    • Pervasive sharing of genetic effects in autoimmune disease
    • Cotsapas, C. et al. Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet. 7, e1002254 (2011).
    • (2011) PLoS Genet. , vol.7 , pp. e1002254
    • Cotsapas, C.1
  • 26
    • 77952367694 scopus 로고    scopus 로고
    • Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations
    • Nica, A.C. et al. Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. PLoS Genet. 6, e1000895 (2010).
    • (2010) PLoS Genet. , vol.6 , pp. e1000895
    • Nica, A.C.1
  • 27
    • 84861719484 scopus 로고    scopus 로고
    • Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes
    • Wallace, C. et al. Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes. Hum. Mol. Genet. 21, 2815-2824 (2012).
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 2815-2824
    • Wallace, C.1
  • 28
    • 85000692305 scopus 로고    scopus 로고
    • An atlas of genetic correlations across human diseases and traits
    • Bulik-Sullivan, B. et al. An atlas of genetic correlations across human diseases and traits. Nat. Genet. 47, 1236-1241 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 1236-1241
    • Bulik-Sullivan, B.1
  • 29
    • 84868336049 scopus 로고    scopus 로고
    • Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
    • Jostins, L. et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 491, 119-124 (2012).
    • (2012) Nature , vol.491 , pp. 119-124
    • Jostins, L.1
  • 30
    • 79961193174 scopus 로고    scopus 로고
    • HAPGEN2: Simulation of multiple disease SNPs
    • Su, Z., Marchini, J. & Donnelly, P. HAPGEN2: simulation of multiple disease SNPs. Bioinformatics 27, 2304-2305 (2011).
    • (2011) Bioinformatics , vol.27 , pp. 2304-2305
    • Su, Z.1    Marchini, J.2    Donnelly, P.3
  • 31
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • Abecasis, G.R. et al. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010).
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Abecasis, G.R.1
  • 33
    • 84887058596 scopus 로고    scopus 로고
    • Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
    • International Multiple Sclerosis Genetics Consortium (IMSGC)
    • International Multiple Sclerosis Genetics Consortium (IMSGC). Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat. Genet. 45, 1353-1360 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1353-1360
  • 34
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007).
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 559-575
    • Purcell, S.1
  • 35
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • Price, A.L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904-909 (2006).
    • (2006) Nat. Genet. , vol.38 , pp. 904-909
    • Price, A.L.1
  • 36
    • 84908324508 scopus 로고    scopus 로고
    • Integrating functional data to prioritize causal variants in statistical fine-mapping studies
    • Kichaev, G. et al. Integrating functional data to prioritize causal variants in statistical fine-mapping studies. PLoS Genet. 10, e1004722 (2014).
    • (2014) PLoS Genet. , vol.10 , pp. e1004722
    • Kichaev, G.1
  • 37
    • 84908042860 scopus 로고    scopus 로고
    • Identifying causal variants at loci with multiple signals of association
    • Hormozdiari, F., Kostem, E., Kang, E.Y., Pasaniuc, B. & Eskin, E. Identifying causal variants at loci with multiple signals of association. Genetics 198, 497-508 (2014).
    • (2014) Genetics , vol.198 , pp. 497-508
    • Hormozdiari, F.1    Kostem, E.2    Kang, E.Y.3    Pasaniuc, B.4    Eskin, E.5
  • 38
    • 84947927630 scopus 로고    scopus 로고
    • Dominant genetic variation and missing heritability for human complex traits: Insights from twin versus genome-wide common SNP models
    • Chen, X. et al. Dominant genetic variation and missing heritability for human complex traits: insights from twin versus genome-wide common SNP models. Am. J. Hum. Genet. 97, 708-714 (2015).
    • (2015) Am. J. Hum. Genet. , vol.97 , pp. 708-714
    • Chen, X.1
  • 39
    • 0042424602 scopus 로고    scopus 로고
    • Statistical significance for genomewide studies
    • Storey, J.D. & Tibshirani, R. Statistical significance for genomewide studies. Proc. Natl. Acad. Sci. USA 100, 9440-9445 (2003).
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 9440-9445
    • Storey, J.D.1    Tibshirani, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.