Cho JH, Feldman M (2015) Heterogeneity of autoimmune diseases: pathophysiologic insights from genetics and implications for new therapies. Nat Med 21:730–738
CAS PubMed PubMed Central Article Google Scholar
Cooper GS, Bynum MLK, Somers EC (2009) Recent insights in the epidemiology of autoimmune diseases: improved prevalence estimates and understanding of clustering of diseases. J Autoimmun 33:197–207
PubMed PubMed Central Article Google Scholar
Hayter SM, Cook MC (2012) Updated assessment of the prevalence, spectrum and case definition of autoimmune disease. Autoimmun Rev 11:754–765
Allanore Y, Simms R, Distler O, Trojanowska M, Pope J, Denton CP et al (2015). Systemic sclerosis Nature Reviews Disease Primers. https://doi.org/10.1038/nrdp.2015.2
Denton CP, Khanna D (2017) Systemic sclerosis. Lancet 390:1685–1699
Vojdani A (2014) A potential link between environmental triggers and autoimmunity. Autoimmune Dis 2014:437231
PubMed PubMed Central Google Scholar
Munroe ME, Anderson JR, Gross TF, Stunz LL, Bishop GA, James JA (2020) Epstein-Barr functional mimicry: pathogenicity of oncogenic latent membrane protein-1 in systemic lupus erythematosus and autoimmunity. Front Immunol 11:606936
CAS PubMed Article Google Scholar
Deapen D, Escalante A, Weinrib L, Horwitz D, Bachman B, Roy-Burman P et al (1992) A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum 35:311–318
CAS PubMed Article Google Scholar
Feghali-Bostwick C, Medsger TA Jr, Wright TM (2003) Analysis of systemic sclerosis in twins reveals low concordance for disease and high concordance for the presence of antinuclear antibodies. Arthritis Rheum 48:1956–1963
MacGregor AJ, Snieder H, Rigby AS, Koskenvuo M, Kaprio J, Aho K et al (2000) Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum 43:30–37
CAS PubMed Article Google Scholar
Alarcón-Segovia D, Alarcón-Riquelme ME, Cardiel MH, Caeiro F, Massardo L, Villa AR et al (2005) Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort. Arthritis Rheum 52:1138–1147
Richard-Miceli C, Criswell LA (2012) Emerging patterns of genetic overlap across autoimmune disorders. Genome Med 4:6
CAS PubMed PubMed Central Article Google Scholar
Grumet FC, Coukell A, Bodmer JG, Bodmer WF, McDevitt HO (1971) Histocompatibility (HL-A) antigens associated with systemic lupus erythematosus. A possible genetic predisposition to disease. N Engl J Med 285:193–196
McMichael AJ, Sasazuki T, McDevitt HO, Payne RO (1977) Increased frequency of HLA-Cw3 and HLA-Dw4 in rheumatoid arthritis. Arthritis Rheum 20:1037–1042
CAS PubMed Article Google Scholar
Stastny P (1978) Association of the B-cell alloantigen DRw4 with rheumatoid arthritis. N Engl J Med 298:869–871
CAS PubMed Article Google Scholar
Siegel RJ, Bridges SL Jr, Ahmed S (2019) HLA-C: an accomplice in rheumatic diseases. ACR Open Rheumatol 1:571–579
PubMed PubMed Central Article Google Scholar
Morris DL, Taylor KE, Fernando MMA, Nititham J, Alarcón-Riquelme ME, Barcellos LF et al (2012) 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 91:778–793
CAS PubMed PubMed Central Article Google Scholar
Louthrenoo W, Kasitanon N, Wichainun R, Wangkaew S, Sukitawut W, Ohnogi Y et al (2013) The genetic contribution of HLA-DRB5*01:01 to systemic lupus erythematosus in Thailand. Int J Immunogenet 40:126–130
CAS PubMed Article Google Scholar
Alarcón-Riquelme ME, Ziegler JT, Molineros J, Howard TD, Moreno-Estrada A, Sánchez-Rodríguez E et al (2016) Genome-wide association study in an Amerindian ancestry population reveals novel systemic lupus erythematosus risk loci and the role of European admixture. Arthritis Rheumatol 68:932–943
PubMed PubMed Central Article CAS Google Scholar
Hanscombe KB, Morris DL, Noble JA, Dilthey AT, Tombleson P, Kaufman KM et al (2018) Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans. Hum Mol Genet 27:3813–3824
CAS PubMed PubMed Central Article Google Scholar
Kim K, Bang S-Y, Lee H-S, Okada Y, Han B, Saw W-Y et al (2014) The HLA-DRβ1 amino acid positions 11–13-26 explain the majority of SLE-MHC associations. Nat Commun 5:5902
CAS PubMed Article Google Scholar
Sun C, Molineros JE, Looger LL, Zhou X-J, Kim K, Okada Y et al (2016) High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry. Nat Genet 48:323–330
CAS PubMed PubMed Central Article Google Scholar
Arnett FC, Hamilton RG, Reveille JD, Bias WB, Harley JB, Reichlin M (1989) Genetic studies of Ro (SS-A) and La (SS-B) autoantibodies in families with systemic lupus erythematosus and primary Sjögren’s syndrome. Arthritis Rheum 32:413–419
CAS PubMed Article Google Scholar
Molineros JE, Looger LL, Kim K, Okada Y, Terao C, Sun C et al (2019) Amino acid signatures of HLA class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians. PLoS Genet 15:e1008092
CAS PubMed PubMed Central Article Google Scholar
Barturen G, Babaei S, Català-Moll F, Martínez-Bueno M, Makowska Z, Martorell-Marugán J et al (2021) Integrative analysis reveals a molecular stratification of systemic autoimmune diseases. Arthritis Rheumatol 73:1073–1085
CAS PubMed Article Google Scholar
Raj P, Rai E, Song R, Khan S, Wakeland BE, Viswanathan K et al (2016) Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity. Elife 5. https://doi.org/10.7554/eLife.12089
Miller S, Tsou P-S, Coit P, Gensterblum-Miller E, Renauer P, Rohraff DM et al (2019) Hypomethylation of STAT1 and HLA-DRB1 is associated with type-I interferon-dependent HLA-DRB1 expression in lupus CD8+ T cells. Ann Rheum Dis 78:519–528
CAS PubMed Article Google Scholar
Acosta-Herrera M, Kerick M, Lopéz-Isac E, Assassi S, Beretta L, Simeón-Aznar CP et al (2021) Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes. Ann Rheum Dis. https://doi.org/10.1136/annrheumdis-2021-219884
González-Serna D, López-Isac E, Yilmaz N, Gharibdoost F, Jamshidi A, Kavosi H et al (2019) Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study. Rheumatology 58:289–298
PubMed Article CAS Google Scholar
Gourh P, Safran SA, Alexander T, Boyden SE, Morgan ND, Shah AA et al (2020) HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry. Proc Natl Acad Sci U S A 117:552–562
CAS PubMed Article Google Scholar
Arnett FC, Gourh P, Shete S, Ahn CW, Honey RE, Agarwal SK et al (2010) Major histocompatibility complex (MHC) class II alleles, haplotypes and epitopes which confer susceptibility or protection in systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls. Ann Rheum Dis 69:822–827
CAS PubMed Article Google Scholar
Beretta L, Rueda B, Marchini M, Santaniello A, Simeón CP, Fonollosa V et al (2012) Analysis of class II human leucocyte antigens in Italian and Spanish systemic sclerosis. Rheumatology 51:52–59
CAS PubMed Article Google Scholar
Rodriguez-Reyna TS, Mercado-Velázquez P, Yu N, Alosco S, Ohashi M, Lebedeva T et al (2015) HLA class I and II blocks are associated to susceptibility, clinical subtypes and autoantibodies in Mexican systemic sclerosis (SSc) patients. PLoS ONE 10:e0126727
PubMed PubMed Central Article CAS Google Scholar
Terao C, Kawaguchi T, Dieude P, Varga J, Kuwana M, Hudson M et al (2017) Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis. Ann Rheum Dis 76:1150–1158
CAS PubMed Article Google Scholar
Sharif R, Fritzler MJ, Mayes MD, Gonzalez EB, McNearney TA, Draeger H et al (2011) Anti-fibrillarin antibody in African American patients with systemic sclerosis: immunogenetics, clinical features, and survival analysis. J Rheumatol 38:1622–1630
CAS PubMed PubMed Central Article Google Scholar
Mayes MD, Bossini-Castillo L, Gorlova O, Martin JE, Zhou X, Chen WV et al (2014) Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis. Am J Hum Genet 94:47–61
CAS PubMed PubMed Central Article Google Scholar
Gorlova O, Martin J-E, Rueda B, Koeleman BPC, Ying J, Teruel M et al (2011) Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. PLoS Genet 7:e1002178
CAS PubMed PubMed Central Article Google Scholar
López-Isac E, Acosta-Herrera M, Kerick M, Assassi S, Satpathy AT, Granja J et al (2019) GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. Nat Commun 10:4955
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