Promoter variant of PIK3C3 is associated with autoimmunity against Ro and Sm epitopes in African-American lupus patients

Timothy B. Niewold, Silvia N. Kariuki, Beverly S. Franek, Rachel A. Mikolaitis, Tammy O. Utset, Meenakshi Jolly, Andrew D. Skol

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20 Scopus citations

Abstract

The PIK3C3 locus was implicated in case-case genome-wide association study of systemic lupus erythematosus (SLE) which we had performed to detect genes associated with autoantibodies and serum interferon-alpha (IFN-). Herein, we examine a PIK3C3 promoter variant (rs3813065/-442 C/T) in an independent multiancestral cohort of 478 SLE cases and 522 controls. rs3813065 C was strongly associated with the simultaneous presence of both anti-Ro and anti-Sm antibodies in African-American patients [ OR=2.24 (1.34-3.73), P=2.0 10 -3 ]. This autoantibody profile was associated with higher serum IFN- (P=7.6 10 -6). In the HapMap Yoruba population, rs3813065 was associated with differential expression of ERAP2 (P=2.0 10 -5), which encodes an enzyme involved in MHC class I peptide processing. Thus, rs3813065 C is associated with a particular autoantibody profile and altered expression of an MHC peptide processing enzyme, suggesting that this variant modulates serologic autoimmunity in African-American SLE patients.

Original languageEnglish (US)
Article number826434
JournalJournal of Biomedicine and Biotechnology
Volume2010
DOIs
StatePublished - Aug 13 2010

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ASJC Scopus subject areas

  • Biotechnology
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis

Cite this

Niewold, T. B., Kariuki, S. N., Franek, B. S., Mikolaitis, R. A., Utset, T. O., Jolly, M., & Skol, A. D. (2010). Promoter variant of PIK3C3 is associated with autoimmunity against Ro and Sm epitopes in African-American lupus patients. Journal of Biomedicine and Biotechnology, 2010, [826434]. https://doi.org/10.1155/2010/826434