ArticleGenes and immunity2009
A regulatory SNP at position -899 in CDKN1A is associated with systemic lupus erythematosus and lupus nephritis.
Article in Genes and immunity, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Effect of THBS1 and P21 Gene Polymorphisms and Their Interaction On Risk of Pre-eclampsia.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Oral Lesions and Oral Health-Related Quality of Life in Adult Patients with Psoriasis: A Retrospective Chart Review.Life (Basel, Switzerland) · 2024Article
- Lupus Susceptibility Region Containing CDKN1B rs34330 Mechanistically Influences Expression and Function of Multiple Target Genes, Also Linked to Proliferation and Apoptosis.Arthritis & rheumatology (Hoboken, N.J.) · 2021Article
- Association of the STAT4, CDKN1A, and IRF5 variants with risk of lupus nephritis and renal biopsy classification in patients in Vietnam.Molecular genetics & genomic medicine · 2021Article
- Article
- Contribution of B-1a cells to systemic lupus erythematosus in the NZM2410 mouse model.Annals of the New York Academy of Sciences · 2015Review
- Linking susceptibility genes and pathogenesis mechanisms using mouse models of systemic lupus erythematosus.Disease models & mechanisms · 2014Review
- Article
- Cyclin-dependent kinase inhibitor Cdkn2c deficiency promotes B1a cell expansion and autoimmunity in a mouse model of lupus.Journal of immunology (Baltimore, Md. : 1950) · 2012Article
- Cell type-specific eQTLs in the human immune system.Nature genetics · 2012Article
- Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.Nature genetics · 2012Article
- Cyclin-dependent kinase inhibitor p21, via its C-terminal domain, is essential for resolution of murine inflammatory arthritis.Arthritis and rheumatism · 2012Article
- Cyclin-dependent kinase inhibitor Cdkn2c regulates B cell homeostasis and function in the NZM2410-derived murine lupus susceptibility locus Sle2c1.Journal of immunology (Baltimore, Md. : 1950) · 2011Article
- Genetics of SLE: evidence from mouse models.Nature reviews. Rheumatology · 2010Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The CDKN1A gene encoding a cell cycle inhibitor, p21(WAF1/CIP1), is located in the systemic lupus erythematosus (SLE) susceptibility locus on chromosome 6p21.2. Decreased cellular levels of p21 are associated with SLE. Here, we examine four single-nucleotide polymorphisms (SNPs) within the promoter and two in the first intron of CDKN1A for association with SLE susceptibility. A comparison of 742 Korean SLE patients with 1017 controls disclosed that one SNP (rs762624 C>A at position -899), located at a putative Myb-binding site in the promoter, was associated with SLE susceptibility (P=0.00047). This association was independent of the SLE-association signal of HLA-DRB1 on 6p21.3, as it was significant after adjustment for SLE-risk DRB1 alleles (P=0.0012). The same SNP was associated with lupus nephritis (P=0.000014). The risk allele-carrying promoter sequence displayed approximately 15% lower activity than the non-risk sequence upon fusion to the luciferase gene (P=0.025). Endogenous CDKN1A mRNA levels measured in Epstein-Barr virus-transformed B cells established from 16 control subjects were linearly correlated with a decreasing copy number of the risk allele (P=0.024). Accordingly, we conclude that the minor allele A at -899 of CDKN1A is associated with increased susceptibility to SLE and lupus nephritis, and decreased cellular levels of p21.
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