Promoter variant of PIK3C3 is associated with autoimmunity against Ro and Sm epitopes in African-American lupus patients. Academic Article uri icon

Overview

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-alpha). 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 x 10(-3)]. This autoantibody profile was associated with higher serum IFN-alpha (P = 7.6 x 10(-6)). In the HapMap Yoruba population, rs3813065 was associated with differential expression of ERAP2 (P = 2.0 x 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.

publication date

  • July 4, 2010

Research

keywords

  • Autoimmunity
  • Black or African American
  • Class III Phosphatidylinositol 3-Kinases
  • Epitopes
  • Lupus Erythematosus, Systemic
  • Phosphatidylinositol 3-Kinases
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic

Identity

PubMed Central ID

  • PMC2910508

Scopus Document Identifier

  • 77955379528

Digital Object Identifier (DOI)

  • 10.1155/2010/826434

PubMed ID

  • 20671926

Additional Document Info

volume

  • 2010