ArticlePLoS genetics2009
High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Article in PLoS genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 4 of them syntheses that pooled it.
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Who cites it
75 citing papers in PubMed, 4 syntheses or guidelines pooled it, 128 citations in OpenAlex.
- Causal associations between Sjögren's syndrome and subtypes of endometrial cancer.BMC immunology · 2026Pooled it
- MHC associations with clinical and autoantibody manifestations in European SLE.Genes and immunity · 2014Pooled it
- Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans.American journal of human genetics · 2012Pooled it
- Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis.PLoS genetics · 2012Pooled it
- Advances and pitfalls in anti-double-stranded DNA autoantibody detection and interpretation.World journal of biological chemistry · 2026Review
- Genomic Landscape of Systemic Lupus Erythematosus and Lupus Nephritis Globally and the Gaps in Africa.International journal of molecular sciences · 2026Review
- Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk.Annals of the rheumatic diseases · 2025Article
- Across ancestries, HLA-B∗08:01∼DRB1∗03:01 (DR3) and HLA-DQA∗01:02 (DR2) increase the risk to develop juvenile-onset systemic lupus erythematosus through low complement C4 levels.Journal of translational autoimmunity · 2025Article
- Angiotensin receptor blockers modulate the lupus CD4+ T cell epigenome characterized by TNF family-linked signaling.JCI insight · 2024Article
- The Role of Sodium-Glucose Co-Transporter-2 (SGLT-2) Inhibitors in Treating Lupus Nephritis: A Systematic Review.Cureus · 2024Review
- Systemic lupus erythematosus genetics: insights into pathogenesis and implications for therapy.Nature reviews. Rheumatology · 2024Review
- Chromosome-level genome and population genomics of the intermediate horseshoe bat (Zoological research · 2024Article
- Psoriasis and Lupus Erythematosus-Similarities and Differences between Two Autoimmune Diseases.Journal of clinical medicine · 2024Review
- The 330 risk loci known for systemic lupus erythematosus (SLE): a review.Frontiers in lupus · 2024Article
- Comprehensive analysis of RNA-5-methylcytosine modification in breast cancer brain metastasis.Future oncology (London, England) · 2024Article
- Leisure Activities, Genetic Risk, and Frailty: Evidence from the Chinese Adults Aged 80 Years or Older.Gerontology · 2023Article
- Immunogenetic Profiling of SLE and LN among Jordanian Patients.Journal of personalized medicine · 2022Article
- Gain-of-functionClinical kidney journal · 2022Article
- The lupus susceptibility allele DRB1*03:01 encodes a disease-driving epitope.Communications biology · 2022Article
- Implications of Endogenous Retroelements in the Etiopathogenesis of Systemic Lupus Erythematosus.Journal of clinical medicine · 2021Review
15 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
18 authors at 4 institutions in 1 country.
Funding
Abstract
A substantial genetic contribution to systemic lupus erythematosus (SLE) risk is conferred by major histocompatibility complex (MHC) gene(s) on chromosome 6p21. Previous studies in SLE have lacked statistical power and genetic resolution to fully define MHC influences. We characterized 1,610 Caucasian SLE cases and 1,470 parents for 1,974 MHC SNPs, the highly polymorphic HLA-DRB1 locus, and a panel of ancestry informative markers. Single-marker analyses revealed strong signals for SNPs within several MHC regions, as well as with HLA-DRB1 (global p = 9.99 x 10(-16)). The most strongly associated DRB1 alleles were: *0301 (odds ratio, OR = 2.21, p = 2.53 x 10(-12)), *1401 (OR = 0.50, p = 0.0002), and *1501 (OR = 1.39, p = 0.0032). The MHC region SNP demonstrating the strongest evidence of association with SLE was rs3117103, with OR = 2.44 and p = 2.80 x 10(-13). Conditional haplotype and stepwise logistic regression analyses identified strong evidence for association between SLE and the extended class I, class I, class III, class II, and the extended class II MHC regions. Sequential removal of SLE-associated DRB1 haplotypes revealed independent effects due to variation within OR2H2 (extended class I, rs362521, p = 0.006), CREBL1 (class III, rs8283, p = 0.01), and DQB2 (class II, rs7769979, p = 0.003, and rs10947345, p = 0.0004). Further, conditional haplotype analyses demonstrated that variation within MICB (class I, rs3828903, p = 0.006) also contributes to SLE risk independent of HLA-DRB1*0301. Our results for the first time delineate with high resolution several MHC regions with independent contributions to SLE risk. We provide a list of candidate variants based on biologic and functional considerations that may be causally related to SLE risk and warrant further investigation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.