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The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.

Publication ,  Journal Article
Bronson, PG; Goldstein, BA; Ramsay, PP; Beckman, KB; Noble, JA; Lane, JA; Seldin, MF; Kelly, JA; Harley, JB; Moser, KL; Gaffney, PM ...
Published in: Genes Immun
December 2011

The major histocompatibility complex (MHC) class II transactivator gene (CIITA) encodes an important transcription factor required for human leukocyte antigens (HLA) class II MHC-restricted antigen presentation. MHC genes, including the HLA class II DRB1*03:01 allele, are strongly associated with systemic lupus erythematosus (SLE). Recently the rs4774 CIITA missense variant (+1632G/C) was reported to be associated with susceptibility to multiple sclerosis. In the current study, we investigated CIITA, DRB1*03:01 and risk of SLE using a multi-stage analysis. In stage 1, 9 CIITA variants were tested in 658 cases and 1363 controls (N=2021). In stage 2, rs4774 was tested in 684 cases and 2938 controls (N=3622). We also performed a meta-analysis of the pooled 1342 cases and 4301 controls (N=5643). In stage 1, rs4774(*)C was associated with SLE (odds ratio (OR)=1.24, 95% confidence interval (95% CI)=1.07-1.44, P=4.2 × 10(-3)). Similar results were observed in stage 2 (OR=1.16, 95% CI=1.02-1.33, P=8.5 × 10(-3)) and the meta-analysis of the combined data set (OR=1.20, 95% CI=1.09-1.33, P(meta)=2.5 × 10(-4)). In all three analyses, the strongest evidence for association between rs4774(*)C and SLE was present in individuals who carried at least one copy of DRB1*03:01 (P(meta)=1.9 × 10(-3)). Results support a role for CIITA in SLE, which appears to be stronger in the presence of DRB1*03:01.

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Published In

Genes Immun

DOI

EISSN

1476-5470

Publication Date

December 2011

Volume

12

Issue

8

Start / End Page

667 / 671

Location

England

Related Subject Headings

  • Young Adult
  • Trans-Activators
  • Risk
  • Polymorphism, Single Nucleotide
  • Nuclear Proteins
  • Mutation, Missense
  • Middle Aged
  • Male
  • Lupus Erythematosus, Systemic
  • Immunology
 

Citation

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Bronson, P. G., Goldstein, B. A., Ramsay, P. P., Beckman, K. B., Noble, J. A., Lane, J. A., … Barcellos, L. F. (2011). The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus. Genes Immun, 12(8), 667–671. https://doi.org/10.1038/gene.2011.36
Bronson, P. G., B. A. Goldstein, P. P. Ramsay, K. B. Beckman, J. A. Noble, J. A. Lane, M. F. Seldin, et al. “The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.Genes Immun 12, no. 8 (December 2011): 667–71. https://doi.org/10.1038/gene.2011.36.
Bronson PG, Goldstein BA, Ramsay PP, Beckman KB, Noble JA, Lane JA, et al. The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus. Genes Immun. 2011 Dec;12(8):667–71.
Bronson, P. G., et al. “The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.Genes Immun, vol. 12, no. 8, Dec. 2011, pp. 667–71. Pubmed, doi:10.1038/gene.2011.36.
Bronson PG, Goldstein BA, Ramsay PP, Beckman KB, Noble JA, Lane JA, Seldin MF, Kelly JA, Harley JB, Moser KL, Gaffney PM, Behrens TW, Criswell LA, Barcellos LF. The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus. Genes Immun. 2011 Dec;12(8):667–671.

Published In

Genes Immun

DOI

EISSN

1476-5470

Publication Date

December 2011

Volume

12

Issue

8

Start / End Page

667 / 671

Location

England

Related Subject Headings

  • Young Adult
  • Trans-Activators
  • Risk
  • Polymorphism, Single Nucleotide
  • Nuclear Proteins
  • Mutation, Missense
  • Middle Aged
  • Male
  • Lupus Erythematosus, Systemic
  • Immunology