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Patrick Gaffney to Genetic Predisposition to Disease

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This is a "connection" page, showing publications Patrick Gaffney has written about Genetic Predisposition to Disease.
Patrick Gaffney
Connection Strength
6.074
Genetic Predisposition to Disease
  1. From association to mechanism in complex disease genetics: the role of the 3D genome. Arthritis Res Ther. 2018 09 29; 20(1):216.
    View in: PubMed
    Score: 0.498
  2. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10; 91(2):391-5.
    View in: PubMed
    Score: 0.326
  3. A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus. Genes Immun. 2012 Jul; 13(5):380-7.
    View in: PubMed
    Score: 0.318
  4. Chromatin Looping Links Target Genes with Genetic Risk Loci for Dermatological Traits. J Invest Dermatol. 2021 08; 141(8):1975-1984.
    View in: PubMed
    Score: 0.147
  5. Mapping DNA interaction landscapes in psoriasis susceptibility loci highlights KLF4 as a target gene in 9q31. BMC Biol. 2020 05 04; 18(1):47.
    View in: PubMed
    Score: 0.139
  6. Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families. Am J Hum Genet. 2000 Feb; 66(2):547-56.
    View in: PubMed
    Score: 0.137
  7. Latent autoimmunity across disease-specific boundaries in at-risk first-degree relatives of SLE and RA patients. EBioMedicine. 2019 Apr; 42:76-85.
    View in: PubMed
    Score: 0.129
  8. A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci U S A. 1998 Dec 08; 95(25):14875-9.
    View in: PubMed
    Score: 0.126
  9. Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans. Hum Mol Genet. 2018 11 01; 27(21):3813-3824.
    View in: PubMed
    Score: 0.125
  10. Enhancer histone-QTLs are enriched on autoimmune risk haplotypes and influence gene expression within chromatin networks. Nat Commun. 2018 07 25; 9(1):2905.
    View in: PubMed
    Score: 0.123
  11. A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases. Nat Genet. 2017 Mar; 49(3):433-437.
    View in: PubMed
    Score: 0.111
  12. Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus. Clin Immunol. 2015 Dec; 161(2):157-62.
    View in: PubMed
    Score: 0.101
  13. Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression. Am J Hum Genet. 2015 May 07; 96(5):731-9.
    View in: PubMed
    Score: 0.098
  14. Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. J Am Soc Nephrol. 2014 Dec; 25(12):2859-70.
    View in: PubMed
    Score: 0.092
  15. GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. Genes Immun. 2014 Sep; 15(6):347-54.
    View in: PubMed
    Score: 0.092
  16. Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription. Am J Hum Genet. 2014 Apr 03; 94(4):586-98.
    View in: PubMed
    Score: 0.091
  17. Use of next-generation DNA sequencing to analyze genetic variants in rheumatic disease. Arthritis Res Ther. 2014; 16(6):490.
    View in: PubMed
    Score: 0.090
  18. Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations. Hum Mol Genet. 2014 Mar 15; 23(6):1656-68.
    View in: PubMed
    Score: 0.089
  19. Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression. PLoS Genet. 2013; 9(10):e1003870.
    View in: PubMed
    Score: 0.088
  20. An enhancer element harboring variants associated with systemic lupus erythematosus engages the TNFAIP3 promoter to influence A20 expression. PLoS Genet. 2013; 9(9):e1003750.
    View in: PubMed
    Score: 0.088
  21. PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes. PLoS One. 2013; 8(8):e69404.
    View in: PubMed
    Score: 0.087
  22. Trans-ancestral studies fine map the SLE-susceptibility locus TNFSF4. PLoS Genet. 2013; 9(7):e1003554.
    View in: PubMed
    Score: 0.087
  23. Variable association of reactive intermediate genes with systemic lupus erythematosus in populations with different African ancestry. J Rheumatol. 2013 Jun; 40(6):842-9.
    View in: PubMed
    Score: 0.086
  24. MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus. PLoS Genet. 2013; 9(2):e1003336.
    View in: PubMed
    Score: 0.085
  25. Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus. Arthritis Rheum. 2012 Nov; 64(11):3695-705.
    View in: PubMed
    Score: 0.083
  26. Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries. Ann Rheum Dis. 2012 Nov; 71(11):1809-14.
    View in: PubMed
    Score: 0.080
  27. Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. Am J Hum Genet. 2012 Apr 06; 90(4):648-60.
    View in: PubMed
    Score: 0.079
  28. Evidence for gene-gene epistatic interactions among susceptibility loci for systemic lupus erythematosus. Arthritis Rheum. 2012 Feb; 64(2):485-92.
    View in: PubMed
    Score: 0.079
  29. Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase. Proc Natl Acad Sci U S A. 2012 Jan 10; 109(2):E59-67.
    View in: PubMed
    Score: 0.078
  30. Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus. Ann Rheum Dis. 2012 May; 71(5):694-9.
    View in: PubMed
    Score: 0.077
  31. Association of PPP2CA polymorphisms with systemic lupus erythematosus susceptibility in multiple ethnic groups. Arthritis Rheum. 2011 Sep; 63(9):2755-63.
    View in: PubMed
    Score: 0.076
  32. Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21. Arthritis Rheum. 2011 Jun; 63(6):1689-97.
    View in: PubMed
    Score: 0.075
  33. The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus. Genes Immun. 2011 Dec; 12(8):667-71.
    View in: PubMed
    Score: 0.075
  34. Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS Genet. 2011 May; 7(5):e1002079.
    View in: PubMed
    Score: 0.075
  35. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. PLoS Genet. 2011 Mar; 7(3):e1001323.
    View in: PubMed
    Score: 0.074
  36. Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes. PLoS Genet. 2011 Feb; 7(2):e1001311.
    View in: PubMed
    Score: 0.073
  37. Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study. Am J Hum Genet. 2011 Jan 07; 88(1):83-91.
    View in: PubMed
    Score: 0.073
  38. Exon 6 variants carried on systemic lupus erythematosus (SLE) risk haplotypes modulate IRF5 function. Autoimmunity. 2011 Mar; 44(2):82-9.
    View in: PubMed
    Score: 0.071
  39. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. PLoS Genet. 2009 Oct; 5(10):e1000696.
    View in: PubMed
    Score: 0.067
  40. A polymorphism within IL21R confers risk for systemic lupus erythematosus. Arthritis Rheum. 2009 Aug; 60(8):2402-7.
    View in: PubMed
    Score: 0.066
  41. European population substructure is associated with mucocutaneous manifestations and autoantibody production in systemic lupus erythematosus. Arthritis Rheum. 2009 Aug; 60(8):2448-56.
    View in: PubMed
    Score: 0.066
  42. Identification of new SLE-associated genes with a two-step Bayesian study design. Genes Immun. 2009 Jul; 10(5):446-56.
    View in: PubMed
    Score: 0.065
  43. Variation in the upstream region of P-Selectin (SELP) is a risk factor for SLE. Genes Immun. 2009 Jul; 10(5):404-13.
    View in: PubMed
    Score: 0.065
  44. Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population. Genes Immun. 2009 Jul; 10(5):531-8.
    View in: PubMed
    Score: 0.065
  45. Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE). Hum Mol Genet. 2009 Mar 15; 18(6):1171-80.
    View in: PubMed
    Score: 0.063
  46. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet. 2008 Sep; 40(9):1059-61.
    View in: PubMed
    Score: 0.062
  47. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet. 2008 Jan; 40(1):83-9.
    View in: PubMed
    Score: 0.059
  48. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A. 2007 Apr 17; 104(16):6758-63.
    View in: PubMed
    Score: 0.056
  49. Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE. Eur J Hum Genet. 2007 Aug; 15(8):823-30.
    View in: PubMed
    Score: 0.056
  50. Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12. Am J Hum Genet. 2006 May; 78(5):747-758.
    View in: PubMed
    Score: 0.052
  51. Fine mapping chromosome 16q12 in a collection of 231 systemic lupus erythematosus sibpair and multiplex families. Genes Immun. 2005 Feb; 6(1):19-23.
    View in: PubMed
    Score: 0.048
  52. Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells. Nat Commun. 2022 07 27; 13(1):4287.
    View in: PubMed
    Score: 0.041
  53. Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet. 2002 Sep; 71(3):543-53.
    View in: PubMed
    Score: 0.041
  54. Deep sequencing reveals a DAP1 regulatory haplotype that potentiates autoimmunity in systemic lupus erythematosus. Genome Biol. 2020 11 19; 21(1):281.
    View in: PubMed
    Score: 0.036
  55. PARP alleles and SLE: failure to confirm association with disease susceptibility. J Clin Invest. 2000 Jun; 105(11):1501-2.
    View in: PubMed
    Score: 0.035
  56. Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons. PLoS Genet. 2017 Jun; 13(6):e1006820.
    View in: PubMed
    Score: 0.029
  57. Association of IFIH1 and pro-inflammatory mediators: Potential new clues in SLE-associated pathogenesis. PLoS One. 2017; 12(2):e0171193.
    View in: PubMed
    Score: 0.028
  58. Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. Nat Genet. 2016 08; 48(8):940-946.
    View in: PubMed
    Score: 0.027
  59. Combined role of vitamin D status and CYP24A1 in the transition to systemic lupus erythematosus. Ann Rheum Dis. 2017 Jan; 76(1):153-158.
    View in: PubMed
    Score: 0.027
  60. Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. Arthritis Rheumatol. 2016 05; 68(5):1197-1209.
    View in: PubMed
    Score: 0.026
  61. Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture. Arthritis Rheumatol. 2016 Apr; 68(4):932-43.
    View in: PubMed
    Score: 0.026
  62. Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production. Ann Rheum Dis. 2016 Nov; 75(11):2007-2013.
    View in: PubMed
    Score: 0.026
  63. Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry. Arthritis Rheumatol. 2016 Jan; 68(1):174-83.
    View in: PubMed
    Score: 0.026
  64. Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study. Genes Immun. 2015 Mar; 16(2):142-50.
    View in: PubMed
    Score: 0.024
  65. Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA. Ann Rheum Dis. 2016 Jan; 75(1):242-52.
    View in: PubMed
    Score: 0.023
  66. Encore: Genetic Association Interaction Network centrality pipeline and application to SLE exome data. Genet Epidemiol. 2013 Sep; 37(6):614-21.
    View in: PubMed
    Score: 0.022
  67. Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. Nat Genet. 2013 Jun; 45(6):664-9.
    View in: PubMed
    Score: 0.021
  68. Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production. PLoS Genet. 2013; 9(2):e1003222.
    View in: PubMed
    Score: 0.021
  69. Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations. Arthritis Rheum. 2012 Nov; 64(11):3687-94.
    View in: PubMed
    Score: 0.021
  70. Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans. Am J Hum Genet. 2012 Nov 02; 91(5):778-93.
    View in: PubMed
    Score: 0.021
  71. Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups. Ann Rheum Dis. 2013 Mar; 72(3):437-44.
    View in: PubMed
    Score: 0.020
  72. Effects of IRF5 lupus risk haplotype on pathways predicted to influence B cell functions. J Biomed Biotechnol. 2012; 2012:594056.
    View in: PubMed
    Score: 0.020
  73. Evaluation of TRAF6 in a large multiancestral lupus cohort. Arthritis Rheum. 2012 Jun; 64(6):1960-9.
    View in: PubMed
    Score: 0.020
  74. Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis. Genes Immun. 2012 Apr; 13(3):232-8.
    View in: PubMed
    Score: 0.019
  75. A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap. PLoS Genet. 2011 Dec; 7(12):e1002406.
    View in: PubMed
    Score: 0.019
  76. IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus. Ann Rheum Dis. 2012 Mar; 71(3):463-8.
    View in: PubMed
    Score: 0.019
  77. Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study. Arthritis Rheum. 2011 Nov; 63(11):3493-501.
    View in: PubMed
    Score: 0.019
  78. Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK. Ann Rheum Dis. 2012 Jan; 71(1):136-42.
    View in: PubMed
    Score: 0.019
  79. Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus. Ann Rheum Dis. 2011 Oct; 70(10):1752-7.
    View in: PubMed
    Score: 0.019
  80. The role of genetic variation near interferon-kappa in systemic lupus erythematosus. J Biomed Biotechnol. 2010; 2010.
    View in: PubMed
    Score: 0.018
  81. Analysis of maternal-offspring HLA compatibility, parent-of-origin effects, and noninherited maternal antigen effects for HLA-DRB1 in systemic lupus erythematosus. Arthritis Rheum. 2010 Jun; 62(6):1712-7.
    View in: PubMed
    Score: 0.017
  82. Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing. Genes Immun. 2009 Jul; 10(5):457-69.
    View in: PubMed
    Score: 0.016
  83. Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC. Genes Immun. 2009 Jun; 10(4):350-5.
    View in: PubMed
    Score: 0.016
  84. Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus. Arthritis Rheum. 2009 Apr; 60(4):1076-84.
    View in: PubMed
    Score: 0.016
  85. High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups. Arthritis Rheum. 2009 Apr; 60(4):1085-95.
    View in: PubMed
    Score: 0.016
  86. Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus. Proc Natl Acad Sci U S A. 2009 Apr 14; 106(15):6256-61.
    View in: PubMed
    Score: 0.016
  87. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet. 2008 Feb; 40(2):204-10.
    View in: PubMed
    Score: 0.015
  88. Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus. Genes Immun. 2006 Oct; 7(7):609-14.
    View in: PubMed
    Score: 0.014
  89. Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus. Genes Immun. 2006 Jul; 7(5):417-32.
    View in: PubMed
    Score: 0.013
  90. Keys to unlocking the mysteries of rheumatic autoimmune disease. Minn Med. 2004 May; 87(5):46-51.
    View in: PubMed
    Score: 0.011
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.