메뉴 건너뛰기




Volumn 13, Issue 1, 2017, Pages 13-24

Update on the genetic architecture of rheumatoid arthritis

Author keywords

[No Author keywords available]

Indexed keywords

CD40 ANTIGEN; CYCLIC CITRULLINATED PEPTIDE ANTIBODY; HLA DRB1 ANTIGEN; RITUXIMAB; AUTOANTIBODY; CYCLIC CITRULLINATED PEPTIDE; CYCLOPEPTIDE; HLA ANTIGEN;

EID: 84994126498     PISSN: 17594790     EISSN: 17594804     Source Type: Journal    
DOI: 10.1038/nrrheum.2016.176     Document Type: Review
Times cited : (105)

References (97)
  • 1
    • 0023024826 scopus 로고
    • Occurrence of rheumatoid arthritis in a nationwide series of twins
    • Aho, K., Koskenvuo, M., Tuominen, J. & Kaprio, J. Occurrence of rheumatoid arthritis in a nationwide series of twins. J. Rheumatol. 13, 899-902 (1986).
    • (1986) J. Rheumatol , vol.13 , pp. 899-902
    • Aho, K.1    Koskenvuo, M.2    Tuominen, J.3    Kaprio, J.4
  • 2
    • 0027375302 scopus 로고
    • Twin concordance rates for rheumatoid arthritis: Results from a nationwide study
    • Silman, A. J. et al. Twin concordance rates for rheumatoid arthritis: results from a nationwide study. Br. J. Rheumatol. 32, 903-907 (1993).
    • (1993) Br. J. Rheumatol , vol.32 , pp. 903-907
    • Silman, A.J.1
  • 3
    • 0034121235 scopus 로고    scopus 로고
    • Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins
    • MacGregor, A. J. et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum. 43, 30-37 (2000).
    • (2000) Arthritis Rheum , vol.43 , pp. 30-37
    • Macgregor, A.J.1
  • 4
    • 65249103342 scopus 로고    scopus 로고
    • Quantitative heritability of anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis
    • van der Woude, D. et al. Quantitative heritability of anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis. Arthritis Rheum. 60, 916-923 (2009).
    • (2009) Arthritis Rheum , vol.60 , pp. 916-923
    • Van Der Woude, D.1
  • 5
    • 84958522995 scopus 로고    scopus 로고
    • A twin study of rheumatoid arthritis in the Japanese population
    • Terao, C. et al. A twin study of rheumatoid arthritis in the Japanese population. Mod. Rheumatol. 26, 685-689 (2016).
    • (2016) Mod. Rheumatol , vol.26 , pp. 685-689
    • Terao, C.1
  • 6
    • 84894288992 scopus 로고    scopus 로고
    • Genetics of rheumatoid arthritis contributes to biology and drug discovery
    • Okada, Y. et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature 506, 376-381 (2014).
    • (2014) Nature , vol.506 , pp. 376-381
    • Okada, Y.1
  • 7
    • 84940590102 scopus 로고    scopus 로고
    • Widespread non-Additive and interaction effects within HLA loci modulate the risk of autoimmune diseases
    • Lenz, T. L. et al. Widespread non-Additive and interaction effects within HLA loci modulate the risk of autoimmune diseases. Nat. Genet. 47, 1085-1090 (2015).
    • (2015) Nat. Genet , vol.47 , pp. 1085-1090
    • Lenz, T.L.1
  • 8
    • 84860333083 scopus 로고    scopus 로고
    • Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
    • Stahl, E. A. et al. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat. Genet. 44, 483-489 (2012).
    • (2012) Nat. Genet , vol.44 , pp. 483-489
    • Stahl, E.A.1
  • 9
    • 9444295337 scopus 로고    scopus 로고
    • Gene map of the extended human MHC
    • Horton, R. et al. Gene map of the extended human MHC. Nat. Rev. Genet. 5, 889-899 (2004).
    • (2004) Nat. Rev. Genet , vol.5 , pp. 889-899
    • Horton, R.1
  • 10
    • 0023500817 scopus 로고
    • The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis
    • Gregersen, P. K., Silver, J. & Winchester, R. J. The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum. 30, 1205-1213 (1987).
    • (1987) Arthritis Rheum , vol.30 , pp. 1205-1213
    • Gregersen, P.K.1    Silver, J.2    Winchester, R.J.3
  • 11
    • 84879964739 scopus 로고    scopus 로고
    • Interaction of HLA-DRB109:01 and 04:05 with smoking suggests distinctive mechanisms of rheumatoid arthritis susceptibility beyond the shared epitope
    • Bang, S. Y., Lee, H. S., Lee, K. W. & Bae, S. C. Interaction of HLA-DRB109:01 and 04:05 with smoking suggests distinctive mechanisms of rheumatoid arthritis susceptibility beyond the shared epitope. J. Rheumatol. 40, 1054-1062 (2013).
    • (2013) J. Rheumatol , vol.40 , pp. 1054-1062
    • Bang, S.Y.1    Lee, H.S.2    Lee, K.W.3    Bae, S.C.4
  • 12
    • 84879835766 scopus 로고    scopus 로고
    • An association analysis of HLA-DRB1 with systemic lupus erythematosus and rheumatoid arthritis in a Japanese population: Effects of09:01 allele on disease phenotypes
    • Shimane, K. et al. An association analysis of HLA-DRB1 with systemic lupus erythematosus and rheumatoid arthritis in a Japanese population: effects of09:01 allele on disease phenotypes. Rheumatology (Oxford) 52, 1172-1182 (2013).
    • (2013) Rheumatology (Oxford) , vol.52 , pp. 1172-1182
    • Shimane, K.1
  • 13
    • 84912020278 scopus 로고    scopus 로고
    • HLA-DRB1-Associated rheumatoid arthritis risk at multiple levels in African Americans: Hierarchical classification systems, amino acid positions, and residues
    • Reynolds, R. J. et al. HLA-DRB1-Associated rheumatoid arthritis risk at multiple levels in African Americans: hierarchical classification systems, amino acid positions, and residues. Arthritis Rheumatol. 66, 3274-3282 (2014).
    • (2014) Arthritis Rheumatol , vol.66 , pp. 3274-3282
    • Reynolds, R.J.1
  • 14
    • 8444224296 scopus 로고    scopus 로고
    • Increased susceptibility to rheumatoid arthritis in Koreans heterozygous for HLA-DRB10405 and 0901
    • Lee, H. S. et al. Increased susceptibility to rheumatoid arthritis in Koreans heterozygous for HLA-DRB10405 and 0901. Arthritis Rheum. 50, 3468-3475 (2004).
    • (2004) Arthritis Rheum , vol.50 , pp. 3468-3475
    • Lee, H.S.1
  • 15
    • 84878802935 scopus 로고    scopus 로고
    • Imputing amino acid polymorphisms in human leukocyte antigens
    • Jia, X. et al. Imputing amino acid polymorphisms in human leukocyte antigens. PLoS ONE 8, e64683 (2013).
    • (2013) PLoS ONE , vol.8 , pp. e64683
    • Jia, X.1
  • 16
    • 84862776511 scopus 로고    scopus 로고
    • Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis
    • Raychaudhuri, S. et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat. Genet. 44, 291-296 (2012).
    • (2012) Nat. Genet , vol.44 , pp. 291-296
    • Raychaudhuri, S.1
  • 17
    • 84960465745 scopus 로고    scopus 로고
    • Imputing variants in HLA-DR beta genes reveals that HLA-DRB1 is solely associated with rheumatoid arthritis and systemic lupus erythematosus
    • Kim, K. et al. Imputing variants in HLA-DR beta genes reveals that HLA-DRB1 is solely associated with rheumatoid arthritis and systemic lupus erythematosus. PLoS ONE 11, e0150283 (2016).
    • (2016) PLoS ONE , vol.11 , pp. e0150283
    • Kim, K.1
  • 18
    • 84911495256 scopus 로고    scopus 로고
    • Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations
    • Okada, Y. et al. Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations. Hum. Mol. Genet. 23, 6916-6926 (2014).
    • (2014) Hum. Mol. Genet , vol.23 , pp. 6916-6926
    • Okada, Y.1
  • 19
    • 84897992288 scopus 로고    scopus 로고
    • Fine mapping seronegative and seropositive rheumatoid arthritis to shared and distinct HLA alleles by adjusting for the effects of heterogeneity
    • Han, B. et al. Fine mapping seronegative and seropositive rheumatoid arthritis to shared and distinct HLA alleles by adjusting for the effects of heterogeneity. Am. J. Hum. Genet. 94, 522-532 (2014).
    • (2014) Am. J. Hum. Genet , vol.94 , pp. 522-532
    • Han, B.1
  • 20
    • 84976541994 scopus 로고    scopus 로고
    • A molecular analysis of the shared epitope hypothesis binding of arthritogenic peptides to DRB104 alleles
    • Anderson, K. M. et al. A molecular analysis of the shared epitope hypothesis binding of arthritogenic peptides to DRB104 alleles. Arthritis Rheumatol. 68, 1627-1636 (2016).
    • (2016) Arthritis Rheumatol , vol.68 , pp. 1627-1636
    • Anderson, K.M.1
  • 21
    • 84938256620 scopus 로고    scopus 로고
    • Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk
    • Hu, X. et al. Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk. Nat. Genet. 47, 898-905 (2015).
    • (2015) Nat. Genet , vol.47 , pp. 898-905
    • Hu, X.1
  • 22
    • 85018199056 scopus 로고    scopus 로고
    • Interactions between amino acid-defined major histocompatibility complex class II variants and smoking in seropositive rheumatoid arthritis
    • Kim, K. et al. Interactions between amino acid-defined major histocompatibility complex class II variants and smoking in seropositive rheumatoid arthritis. Arthritis Rheumatol. 67, 2611-2623 (2015).
    • (2015) Arthritis Rheumatol , vol.67 , pp. 2611-2623
    • Kim, K.1
  • 23
    • 78650860672 scopus 로고    scopus 로고
    • Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records
    • Kurreeman, F. et al. Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records. Am. J. Hum. Genet. 88, 57-69 (2011).
    • (2011) Am. J. Hum. Genet , vol.88 , pp. 57-69
    • Kurreeman, F.1
  • 24
    • 82755160838 scopus 로고    scopus 로고
    • A large-scale association study identified multiple HLA-DRB1 alleles associated with ACPA-negative rheumatoid arthritis in Japanese subjects
    • Terao, C. et al. A large-scale association study identified multiple HLA-DRB1 alleles associated with ACPA-negative rheumatoid arthritis in Japanese subjects. Ann. Rheum. Dis. 70, 2134-2139 (2011).
    • (2011) Ann. Rheum. Dis , vol.70 , pp. 2134-2139
    • Terao, C.1
  • 25
    • 84868502721 scopus 로고    scopus 로고
    • Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients
    • Viatte, S. et al. Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients. Ann. Rheum. Dis. 71, 1984-1990 (2012).
    • (2012) Ann. Rheum. Dis , vol.71 , pp. 1984-1990
    • Viatte, S.1
  • 26
    • 85027928051 scopus 로고    scopus 로고
    • A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides
    • Bossini-Castillo, L. et al. A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. Ann. Rheum. Dis. 74, e15 (2015).
    • (2015) Ann. Rheum. Dis , vol.74 , pp. e15
    • Bossini-Castillo, L.1
  • 27
    • 84922347461 scopus 로고    scopus 로고
    • Identification of anticitrullinated protein antibody reactivities in a subset of anti-CCP-negative rheumatoid arthritis: Association with cigarette smoking and HLA-DRB1 shared epitope alleles
    • Wagner, C. A. et al. Identification of anticitrullinated protein antibody reactivities in a subset of anti-CCP-negative rheumatoid arthritis: Association with cigarette smoking and HLA-DRB1 shared epitope alleles. Ann. Rheum. Dis. 74, 579-586 (2015).
    • (2015) Ann. Rheum. Dis , vol.74 , pp. 579-586
    • Wagner, C.A.1
  • 28
    • 84928106416 scopus 로고    scopus 로고
    • High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci
    • Kim, K. et al. High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. Ann. Rheum. Dis. 74, e13 (2015).
    • (2015) Ann. Rheum. Dis , vol.74 , pp. e13
    • Kim, K.1
  • 29
    • 84879258952 scopus 로고    scopus 로고
    • Identification of the tyrosine-protein phosphatase non-receptor type 2 as a rheumatoid arthritis susceptibility locus in Europeans
    • Cobb, J. E. et al. Identification of the tyrosine-protein phosphatase non-receptor type 2 as a rheumatoid arthritis susceptibility locus in Europeans. PLoS ONE 8, e66456 (2013).
    • (2013) PLoS ONE , vol.8 , pp. e66456
    • Cobb, J.E.1
  • 30
    • 84888988248 scopus 로고    scopus 로고
    • Identification of BACH2 and RAD51B as rheumatoid arthritis susceptibility loci in a meta-Analysis of genome-wide data
    • McAllister, K. et al. Identification of BACH2 and RAD51B as rheumatoid arthritis susceptibility loci in a meta-Analysis of genome-wide data. Arthritis Rheum. 65, 3058-3062 (2013).
    • (2013) Arthritis Rheum , vol.65 , pp. 3058-3062
    • McAllister, K.1
  • 31
    • 84897018997 scopus 로고    scopus 로고
    • Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study
    • Orozco, G. et al. Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. Arthritis Rheumatol. 66, 24-30 (2014).
    • (2014) Arthritis Rheumatol , vol.66 , pp. 24-30
    • Orozco, G.1
  • 32
    • 84959477574 scopus 로고    scopus 로고
    • Significant impact of miRNA-Target gene networks on genetics of human complex traits
    • Okada, Y. et al. Significant impact of miRNA-Target gene networks on genetics of human complex traits. Sci. Rep. 6, 22223 (2016).
    • (2016) Sci. Rep , vol.6 , pp. 22223
    • Okada, Y.1
  • 33
    • 84974603621 scopus 로고    scopus 로고
    • Association-heterogeneity mapping identifies and Asian-spcific association of the GTF2I locus with rheumatoid arthritis
    • Kim, K. et al. Association-heterogeneity mapping identifies and Asian-spcific association of the GTF2I locus with rheumatoid arthritis. Sci. Rep. 6, 27563 (2016).
    • (2016) Sci. Rep , vol.6 , pp. 27563
    • Kim, K.1
  • 34
    • 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
  • 35
    • 84892746185 scopus 로고    scopus 로고
    • Quantifying missing heritability at known GWAS loci
    • Gusev, A. et al. Quantifying missing heritability at known GWAS loci. PLoS Genet. 9, e1003993 (2013).
    • (2013) PLoS Genet , vol.9 , pp. e1003993
    • Gusev, A.1
  • 36
    • 84862809846 scopus 로고    scopus 로고
    • Meta-Analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population
    • Okada, Y. et al. Meta-Analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. Nat. Genet. 44, 511-516 (2012).
    • (2012) Nat. Genet , vol.44 , pp. 511-516
    • Okada, Y.1
  • 37
    • 84862790007 scopus 로고    scopus 로고
    • Use of a multiethnic approach to identify rheumatoid-Arthritis-susceptibility loci, 1p36 and 17q12
    • Kurreeman, F. A. et al. Use of a multiethnic approach to identify rheumatoid-Arthritis-susceptibility loci, 1p36 and 17q12. Am. J. Hum. Genet. 90, 524-532 (2012).
    • (2012) Am. J. Hum. Genet , vol.90 , pp. 524-532
    • Kurreeman, F.A.1
  • 38
    • 84923326765 scopus 로고    scopus 로고
    • Genetic and epigenetic fine mapping of causal autoimmune disease variants
    • Farh, K. K. 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.1
  • 39
    • 84938982145 scopus 로고    scopus 로고
    • Leveraging functional-Annotation data in trans-ethnic fine-mapping studies
    • Kichaev, G. & Pasaniuc, B. Leveraging functional-Annotation data in trans-ethnic fine-mapping studies. Am. J. Hum. Genet. 97, 260-271 (2015).
    • (2015) Am. J. Hum. Genet , vol.97 , pp. 260-271
    • Kichaev, G.1    Pasaniuc, B.2
  • 40
    • 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
  • 41
    • 33847334699 scopus 로고    scopus 로고
    • Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome
    • Heintzman, N. D. et al. Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome. Nat. Genet. 39, 311-318 (2007).
    • (2007) Nat. Genet , vol.39 , pp. 311-318
    • Heintzman, N.D.1
  • 42
    • 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
  • 43
    • 84897459814 scopus 로고    scopus 로고
    • An atlas of active enhancers across human cell types and tissues
    • Andersson, R. et al. An atlas of active enhancers across human cell types and tissues. Nature 507, 455-461 (2014).
    • (2014) Nature , vol.507 , pp. 455-461
    • Andersson, R.1
  • 44
    • 84935880348 scopus 로고    scopus 로고
    • Enrichment of genetic variants for rheumatoid arthritis within T-cell and NK-cell enhancer regions
    • Freudenberg, J., Gregersen, P. & Li, W. Enrichment of genetic variants for rheumatoid arthritis within T-cell and NK-cell enhancer regions. Mol. Med. 21, 180-184 (2015).
    • (2015) Mol. Med , vol.21 , pp. 180-184
    • Freudenberg, J.1    Gregersen, P.2    Li, W.3
  • 45
    • 84928560965 scopus 로고    scopus 로고
    • Super-enhancers delineate disease-Associated regulatory nodes in T cells
    • Vahedi, G. et al. Super-enhancers delineate disease-Associated regulatory nodes in T cells. Nature 520, 558-562 (2015).
    • (2015) Nature , vol.520 , pp. 558-562
    • Vahedi, G.1
  • 46
    • 84923545705 scopus 로고    scopus 로고
    • Expression profiles of long non-coding RNAs located in autoimmune disease-Associated regions reveal immune cell-Type specificity
    • Hrdlickova, B. et al. Expression profiles of long non-coding RNAs located in autoimmune disease-Associated regions reveal immune cell-Type specificity. Genome Med. 6, 88 (2014).
    • (2014) Genome Med , vol.6 , pp. 88
    • Hrdlickova, B.1
  • 47
    • 84865727393 scopus 로고    scopus 로고
    • The GENCODE v7 catalog of human long noncoding RNAs: Analysis of their gene structure, evolution, and expression
    • Derrien, T. et al. The GENCODE v7 catalog of human long noncoding RNAs: Analysis of their gene structure, evolution, and expression. Genome Res. 22, 1775-1789 (2012).
    • (2012) Genome Res , vol.22 , pp. 1775-1789
    • Derrien, T.1
  • 48
    • 84881478367 scopus 로고    scopus 로고
    • A long noncoding RNA mediates both activation and repression of immune response genes
    • Carpenter, S. et al. A long noncoding RNA mediates both activation and repression of immune response genes. Science 341, 789-792 (2013).
    • (2013) Science , vol.341 , pp. 789-792
    • Carpenter, S.1
  • 49
    • 33745193973 scopus 로고    scopus 로고
    • Gene expression microarrays: Glimpses of the immunological genome
    • Hyatt, G. et al. Gene expression microarrays: glimpses of the immunological genome. Nat. Immunol. 7, 686-691 (2006).
    • (2006) Nat. Immunol , vol.7 , pp. 686-691
    • Hyatt, G.1
  • 50
    • 80053896562 scopus 로고    scopus 로고
    • Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets
    • Hu, X. et al. Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets. Am. J. Hum. Genet. 89, 496-506 (2011).
    • (2011) Am. J. Hum. Genet , vol.89 , pp. 496-506
    • Hu, X.1
  • 51
    • 0033554726 scopus 로고    scopus 로고
    • Two subsets of memory T lymphocytes with distinct homing potentials and effector functions
    • Sallusto, F., Lenig, D., Forster, R., Lipp, M. & Lanzavecchia, A. Two subsets of memory T lymphocytes with distinct homing potentials and effector functions. Nature 401, 708-712 (1999).
    • (1999) Nature , vol.401 , pp. 708-712
    • Sallusto, F.1    Lenig, D.2    Forster, R.3    Lipp, M.4    Lanzavecchia, A.5
  • 52
    • 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
  • 53
    • 84903457544 scopus 로고    scopus 로고
    • Regulation of gene expression in autoimmune disease loci and the genetic basis of proliferation in CD4+ effector memory T cells
    • Hu, X. et al. Regulation of gene expression in autoimmune disease loci and the genetic basis of proliferation in CD4+ effector memory T cells. PLoS Genet. 10, e1004404 (2014).
    • (2014) PLoS Genet , vol.10 , pp. e1004404
    • Hu, X.1
  • 54
    • 84897855294 scopus 로고    scopus 로고
    • Obesity-Associated variants within FTO form long-range functional connections with IRX3
    • Smemo, S. et al. Obesity-Associated variants within FTO form long-range functional connections with IRX3. Nature 507, 371-375 (2014).
    • (2014) Nature , vol.507 , pp. 371-375
    • Smemo, S.1
  • 55
    • 78649464259 scopus 로고    scopus 로고
    • Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-Associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling
    • Stratigopoulos, G., LeDuc, C. A., Cremona, M. L., Chung, W. K. & Leibel, R. L. Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-Associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling. J. Biol. Chem. 286, 2155-2170 (2011).
    • (2011) J. Biol. Chem , vol.286 , pp. 2155-2170
    • Stratigopoulos, G.1    Leduc, C.A.2    Cremona, M.L.3    Chung, W.K.4    Leibel, R.L.5
  • 56
    • 84899900892 scopus 로고    scopus 로고
    • Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice
    • Stratigopoulos, G. et al. Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice. Cell Metab. 19, 767-779 (2014).
    • (2014) Cell Metab , vol.19 , pp. 767-779
    • Stratigopoulos, G.1
  • 57
    • 84948686586 scopus 로고    scopus 로고
    • Capture Hi-C reveals novel candidate genes and complex long-range interactions with related autoimmune risk loci
    • Martin, P. et al. Capture Hi-C reveals novel candidate genes and complex long-range interactions with related autoimmune risk loci. Nat. Commun. 6, 10069 (2015).
    • (2015) Nat. Commun , vol.6 , pp. 10069
    • Martin, P.1
  • 58
    • 77957342306 scopus 로고    scopus 로고
    • Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits
    • Segre, A. V. et al. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet. 6, e1001058 (2010).
    • (2010) PLoS Genet , vol.6 , pp. e1001058
    • Segre, A.V.1
  • 59
    • 84859727275 scopus 로고    scopus 로고
    • The Mouse Genome Database (MGD): Comprehensive resource for genetics and genomics of the laboratory mouse
    • Eppig, J. T. et al. The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse. Nucleic Acids Res. 40, D881-D886 (2012).
    • (2012) Nucleic Acids Res , vol.40 , pp. D881-D886
    • Eppig, J.T.1
  • 60
    • 84875920469 scopus 로고    scopus 로고
    • Genetic studies on components of the Wnt signalling pathway and the severity of joint destruction in rheumatoid arthritis
    • de Rooy, D. P. et al. Genetic studies on components of the Wnt signalling pathway and the severity of joint destruction in rheumatoid arthritis. Ann. Rheum. Dis. 72, 769-775 (2013).
    • (2013) Ann. Rheum. Dis , vol.72 , pp. 769-775
    • De Rooy, D.P.1
  • 61
    • 84880922498 scopus 로고    scopus 로고
    • Enrichment of Vitamin D response elements in RA-Associated loci supports a role for Vitamin D in the pathogenesis of RA
    • Yarwood, A. et al. Enrichment of vitamin D response elements in RA-Associated loci supports a role for vitamin D in the pathogenesis of RA. Genes Immun. 14, 325-329 (2013).
    • (2013) Genes Immun , vol.14 , pp. 325-329
    • Yarwood, A.1
  • 62
    • 84885820463 scopus 로고    scopus 로고
    • Measles contributes to rheumatoid arthritis: Evidence from pathway and network analyses of genome-wide association studies
    • Liu, G. et al. Measles contributes to rheumatoid arthritis: evidence from pathway and network analyses of genome-wide association studies. PLoS ONE 8, e75951 (2013).
    • (2013) PLoS ONE , vol.8 , pp. e75951
    • Liu, G.1
  • 63
    • 84929459112 scopus 로고    scopus 로고
    • Abundant genetic overlap between blood lipids and immune-mediated diseases indicates shared molecular genetic mechanisms
    • Andreassen, O. A. et al. Abundant genetic overlap between blood lipids and immune-mediated diseases indicates shared molecular genetic mechanisms. PLoS ONE 10, e0123057 (2015).
    • (2015) PLoS ONE , vol.10 , pp. e0123057
    • Andreassen, O.A.1
  • 64
    • 84886388469 scopus 로고    scopus 로고
    • Integrative pathway-based approach for genome-wide association studies: Identification of new pathways for rheumatoid arthritis and type 1 diabetes
    • Buchel, F. et al. Integrative pathway-based approach for genome-wide association studies: identification of new pathways for rheumatoid arthritis and type 1 diabetes. PLoS ONE 8, e78577 (2013).
    • (2013) PLoS ONE , vol.8 , pp. e78577
    • Buchel, F.1
  • 65
    • 84905495063 scopus 로고    scopus 로고
    • The intersection of immune deficiency and autoimmunity
    • Maggadottir, S. M. & Sullivan, K. E. The intersection of immune deficiency and autoimmunity. Curr. Opin. Rheumatol. 26, 570-578 (2014).
    • (2014) Curr. Opin. Rheumatol , vol.26 , pp. 570-578
    • Maggadottir, S.M.1    Sullivan, K.E.2
  • 66
    • 84940999709 scopus 로고    scopus 로고
    • Multiple sources of bias confound functional enrichment analysis of global-omics data
    • Timmons, J. A., Szkop, K. J. & Gallagher, I. J. Multiple sources of bias confound functional enrichment analysis of global-omics data. Genome Biol. 16, 186 (2015).
    • (2015) Genome Biol , vol.16 , pp. 186
    • Timmons, J.A.1    Szkop, K.J.2    Gallagher, I.J.3
  • 67
    • 84875278357 scopus 로고    scopus 로고
    • Different effects of biological drugs in rheumatoid arthritis
    • Atzeni, F. et al. Different effects of biological drugs in rheumatoid arthritis. Autoimmun. Rev. 12, 575-579 (2013).
    • (2013) Autoimmun. Rev , vol.12 , pp. 575-579
    • Atzeni, F.1
  • 68
    • 84900449627 scopus 로고    scopus 로고
    • Identification of novel therapeutics for complex diseases from genome-wide association data
    • Grover, M. P. et al. Identification of novel therapeutics for complex diseases from genome-wide association data. BMC Med. Genomics 7 (Suppl. 1), S8 (2014).
    • (2014) BMC Med. Genomics , vol.7 , pp. S8
    • Grover, M.P.1
  • 69
    • 1842368507 scopus 로고    scopus 로고
    • IDEC-C2B8 (rituximab) anti-CD20 monoclonal antibody therapy in patients with relapsed low-grade non-Hodgkins lymphoma
    • Maloney, D. G. et al. IDEC-C2B8 (rituximab) anti-CD20 monoclonal antibody therapy in patients with relapsed low-grade non-Hodgkins lymphoma. Blood 90, 2188-2195 (1997).
    • (1997) Blood , vol.90 , pp. 2188-2195
    • Maloney, D.G.1
  • 70
    • 2942537697 scopus 로고    scopus 로고
    • Efficacy of B-cell-Targeted therapy with rituximab in patients with rheumatoid arthritis
    • Edwards, J. C. et al. Efficacy of B-cell-Targeted therapy with rituximab in patients with rheumatoid arthritis. N. Engl. J. Med. 350, 2572-2581 (2004).
    • (2004) N. Engl. J. Med , vol.350 , pp. 2572-2581
    • Edwards, J.C.1
  • 71
    • 84881315517 scopus 로고    scopus 로고
    • Validating therapeutic targets through human genetics
    • Plenge, R. M., Scolnick, E. M. & Altshuler, D. Validating therapeutic targets through human genetics. Nat. Rev. Drug Discov. 12, 581-594 (2013).
    • (2013) Nat. Rev. Drug Discov , vol.12 , pp. 581-594
    • Plenge, R.M.1    Scolnick, E.M.2    Altshuler, D.3
  • 72
    • 84878492072 scopus 로고    scopus 로고
    • Human genetics in rheumatoid arthritis guides a high-Throughput drug screen of the CD40 signaling pathway
    • Li, G. et al. Human genetics in rheumatoid arthritis guides a high-Throughput drug screen of the CD40 signaling pathway. PLoS Genet. 9, e1003487 (2013).
    • (2013) PLoS Genet , vol.9 , pp. e1003487
    • Li, G.1
  • 73
    • 84928637582 scopus 로고    scopus 로고
    • The rheumatoid arthritis risk gene LBH regulates growth in fibroblast-like synoviocytes
    • Ekwall, A. K. et al. The rheumatoid arthritis risk gene LBH regulates growth in fibroblast-like synoviocytes. Arthritis Rheumatol. 67, 1193-1202 (2015).
    • (2015) Arthritis Rheumatol , vol.67 , pp. 1193-1202
    • Ekwall, A.K.1
  • 74
    • 84925858486 scopus 로고    scopus 로고
    • Functional analysis of a complement polymorphism (rs17611) associated with rheumatoid arthritis
    • Giles, J. L., Choy, E., van den Berg, C., Morgan, B. P. & Harris, C. L. Functional analysis of a complement polymorphism (rs17611) associated with rheumatoid arthritis. J. Immunol. 194, 3029-3034 (2015).
    • (2015) J. Immunol , vol.194 , pp. 3029-3034
    • Giles, J.L.1    Choy, E.2    Van Den Berg, C.3    Morgan, B.P.4    Harris, C.L.5
  • 75
    • 84929712572 scopus 로고    scopus 로고
    • The autoimmunity-Associated gene CLEC16A modulates thymic epithelial cell autophagy and alters T cell selection
    • Schuster, C. et al. The autoimmunity-Associated gene CLEC16A modulates thymic epithelial cell autophagy and alters T cell selection. Immunity 42, 942-952 (2015).
    • (2015) Immunity , vol.42 , pp. 942-952
    • Schuster, C.1
  • 76
    • 84940121364 scopus 로고    scopus 로고
    • The W620 polymorphism in PTPN22 disrupts its interaction with peptidylarginine deiminase type 4 and enhances citrullination and NETosis
    • Chang, H. H., Dwivedi, N., Nicholas, A. P. & Ho, I. C. The W620 polymorphism in PTPN22 disrupts its interaction with peptidylarginine deiminase type 4 and enhances citrullination and NETosis. Arthritis Rheumatol. 67, 2323-2334 (2015).
    • (2015) Arthritis Rheumatol , vol.67 , pp. 2323-2334
    • Chang, H.H.1    Dwivedi, N.2    Nicholas, A.P.3    Ho, I.C.4
  • 77
    • 84937717591 scopus 로고    scopus 로고
    • Cutting edge: Chronic NF-κB activation in CD4+ T Cells in rheumatoid arthritis is genetically determined by HLA risk alleles
    • Spurlock, C. F. III, Tossberg, J. T., Olsen, N. J. & Aune, T. M. Cutting edge: chronic NF-κB activation in CD4+ T Cells in rheumatoid arthritis is genetically determined by HLA risk alleles. J. Immunol. 195, 791-795 (2015).
    • (2015) J. Immunol , vol.195 , pp. 791-795
    • Spurlock, C.F.1    Tossberg, J.T.2    Olsen, N.J.3    Aune, T.M.4
  • 78
    • 84941671291 scopus 로고    scopus 로고
    • C5orf30 is a negative regulator of tissue damage in rheumatoid arthritis
    • Muthana, M. et al. C5orf30 is a negative regulator of tissue damage in rheumatoid arthritis. Proc. Natl Acad. Sci. USA 112, 11618-11623 (2015).
    • (2015) Proc. Natl Acad. Sci. USA , vol.112 , pp. 11618-11623
    • Muthana, M.1
  • 79
    • 84959559197 scopus 로고    scopus 로고
    • A novel long non-coding RNA in the rheumatoid arthritis risk locus TRAF1-C5 influences C5 mRNA levels
    • Messemaker, T. C. et al. A novel long non-coding RNA in the rheumatoid arthritis risk locus TRAF1-C5 influences C5 mRNA levels. Genes Immun. 17, 85-92 (2015).
    • (2015) Genes Immun , vol.17 , pp. 85-92
    • Messemaker, T.C.1
  • 80
    • 84872832172 scopus 로고    scopus 로고
    • The autoimmunity risk variant LYP-W620 cooperates with CSK in the regulation of TCR signaling
    • de la Puerta, M. L. et al. The autoimmunity risk variant LYP-W620 cooperates with CSK in the regulation of TCR signaling. PLoS ONE 8, e54569 (2013).
    • (2013) PLoS ONE , vol.8 , pp. e54569
    • De La Puerta, M.L.1
  • 81
    • 84874407375 scopus 로고    scopus 로고
    • Association of an activity-enhancing variant of IRAK1 and an MECP2-IRAK1 haplotype with increased susceptibility to rheumatoid arthritis
    • Han, T. U. et al. Association of an activity-enhancing variant of IRAK1 and an MECP2-IRAK1 haplotype with increased susceptibility to rheumatoid arthritis. Arthritis Rheum. 65, 590-598 (2013).
    • (2013) Arthritis Rheum , vol.65 , pp. 590-598
    • Han, T.U.1
  • 82
    • 84876828211 scopus 로고    scopus 로고
    • Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases
    • Ferreira, R. C. et al. Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases. PLoS Genet. 9, e1003444 (2013).
    • (2013) PLoS Genet , vol.9 , pp. e1003444
    • Ferreira, R.C.1
  • 83
    • 84925144681 scopus 로고    scopus 로고
    • UBE2L3 polymorphism amplifies NF-κB activation and promotes plasma cell development, linking linear ubiquitination to multiple autoimmune diseases
    • Lewis, M. J. et al. UBE2L3 polymorphism amplifies NF-κB activation and promotes plasma cell development, linking linear ubiquitination to multiple autoimmune diseases. Am. J. Hum. Genet. 96, 221-234 (2015).
    • (2015) Am. J. Hum. Genet , vol.96 , pp. 221-234
    • Lewis, M.J.1
  • 84
    • 84953344680 scopus 로고    scopus 로고
    • From genetics to functional insights into rheumatoid arthritis
    • Suzuki, A. & Yamamoto, K. From genetics to functional insights into rheumatoid arthritis. Clin. Exp. Rheumatol. 33 (4 Suppl. 92), S40-S43 (2015).
    • (2015) Clin. Exp. Rheumatol , vol.33 , Issue.4 , pp. S40-S43
    • Suzuki, A.1    Yamamoto, K.2
  • 85
    • 84928731411 scopus 로고    scopus 로고
    • Association of HLA-DRB1 haplotypes with rheumatoid arthritis severity, mortality, and treatment response
    • Viatte, S. et al. Association of HLA-DRB1 haplotypes with rheumatoid arthritis severity, mortality, and treatment response. JAMA 313, 1645-1656 (2015).
    • (2015) JAMA , vol.313 , pp. 1645-1656
    • Viatte, S.1
  • 86
    • 40849097776 scopus 로고    scopus 로고
    • Heritability in the genomics era-concepts and misconceptions
    • Visscher, P. M., Hill, W. G. & Wray, N. R. Heritability in the genomics era-concepts and misconceptions. Nat. Rev. Genet. 9, 255-266 (2008).
    • (2008) Nat. Rev. Genet , vol.9 , pp. 255-266
    • Visscher, P.M.1    Hill, W.G.2    Wray, N.R.3
  • 87
    • 84874521997 scopus 로고    scopus 로고
    • On the origin of rheumatoid arthritis: The impact of environment and genes-A population based twin study
    • Svendsen, A. J. et al. On the origin of rheumatoid arthritis: The impact of environment and genes-A population based twin study. PLoS ONE 8, e57304 (2013).
    • (2013) PLoS ONE , vol.8 , pp. e57304
    • Svendsen, A.J.1
  • 88
    • 84872323563 scopus 로고    scopus 로고
    • Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis
    • Diogo, D. et al. Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis. Am. J. Hum. Genet. 92, 15-27 (2013).
    • (2013) Am. J. Hum. Genet , vol.92 , pp. 15-27
    • Diogo, D.1
  • 89
    • 84928920020 scopus 로고    scopus 로고
    • TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-Autoimmune complex traits
    • Diogo, D. et al. TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-Autoimmune complex traits. PLoS ONE 10, e0122271 (2015).
    • (2015) PLoS ONE , vol.10 , pp. e0122271
    • Diogo, D.1
  • 90
    • 84988891166 scopus 로고    scopus 로고
    • Targeted exon sequencing fails to identify rare coding variants with large effect in rheumatoid arthritis
    • Bang, S. Y. et al. Targeted exon sequencing fails to identify rare coding variants with large effect in rheumatoid arthritis. Arthritis Res. Ther. 16, 447 (2014).
    • (2014) Arthritis Res. Ther , vol.16 , pp. 447
    • Bang, S.Y.1
  • 91
    • 84895770158 scopus 로고    scopus 로고
    • Integration of sequence data from a consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene
    • Okada, Y. et al. Integration of sequence data from a consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. PLoS ONE 9, e87645 (2014).
    • (2014) PLoS ONE , vol.9 , pp. e87645
    • Okada, Y.1
  • 92
    • 84891908638 scopus 로고    scopus 로고
    • A 129-kb deletion on chromosome 12 confers substantial protection against rheumatoid arthritis, implicating the gene SLC2A3
    • Veal, C. D. et al. A 129-kb deletion on chromosome 12 confers substantial protection against rheumatoid arthritis, implicating the gene SLC2A3. Hum. Mutat. 35, 248-256 (2014).
    • (2014) Hum. Mutat , vol.35 , pp. 248-256
    • Veal, C.D.1
  • 93
    • 84898669483 scopus 로고    scopus 로고
    • Contribution of functional LILRA3, but not nonfunctional LILRA3, to sex bias in susceptibility and severity of anti-citrullinated protein antibody-positive rheumatoid arthritis
    • Du, Y. et al. Contribution of functional LILRA3, but not nonfunctional LILRA3, to sex bias in susceptibility and severity of anti-citrullinated protein antibody-positive rheumatoid arthritis. Arthritis Rheumatol. 66, 822-830 (2014).
    • (2014) Arthritis Rheumatol , vol.66 , pp. 822-830
    • Du, Y.1
  • 94
    • 84939450760 scopus 로고    scopus 로고
    • Association of FCGR3A and FCGR3B copy number variations with systemic lupus erythematosus and rheumatoid arthritis in Taiwanese patients
    • Chen, J. Y. et al. Association of FCGR3A and FCGR3B copy number variations with systemic lupus erythematosus and rheumatoid arthritis in Taiwanese patients. Arthritis Rheumatol. 66, 3113-3121 (2014).
    • (2014) Arthritis Rheumatol , vol.66 , pp. 3113-3121
    • Chen, J.Y.1
  • 95
    • 84954394547 scopus 로고    scopus 로고
    • Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes
    • Franke, L. et al. Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes. Eur. J. Hum. Genet. 24, 263-270 (2016).
    • (2016) Eur. J. Hum. Genet , vol.24 , pp. 263-270
    • Franke, L.1
  • 96
    • 84874545024 scopus 로고    scopus 로고
    • Whole-genome detection of disease-Associated deletions or excess homozygosity in a case-control study of rheumatoid arthritis
    • Wu, C. C. et al. Whole-genome detection of disease-Associated deletions or excess homozygosity in a case-control study of rheumatoid arthritis. Hum. Mol. Genet. 22, 1249-1261 (2013).
    • (2013) Hum. Mol. Genet , vol.22 , pp. 1249-1261
    • Wu, C.C.1
  • 97
    • 77955505564 scopus 로고    scopus 로고
    • Biological, clinical and population relevance of 95 loci for blood lipids
    • Teslovich, T. M. et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466, 707-713 (2010).
    • (2010) Nature , vol.466 , pp. 707-713
    • Teslovich, T.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.