Different genetic effect of PXK on systemic lupus erythematosus in the Korean population

Rheumatol Int. 2012 Jan;32(1):277-80. doi: 10.1007/s00296-010-1789-3. Epub 2011 Jan 18.


PXK was identified as a novel candidate gene for systemic lupus erythematosus (SLE) from genome-wide association studies (GWAS) in Caucasians. But a recent replication study in Hong Kong Chinese reported that PXK was not associated with SLE. The aim of this study was to determine whether PXK is associated with SLE in Koreans. We genotyped single nucleotide polymorphism (SNP) rs6445975 of PXK using the TaqMan assay in 527 Korean patients with SLE and 517 healthy Korean control subjects. Genotypic associations were assessed using multiple logistic regression models. Additional analyses were also performed by subphenotype stratification. No association was detected between PXK rs6445975 and SLE (odds ratio (OR) = 1.06, P = 0.57). PXK rs6445975 showed positive associations with photosensitivity (P = 0.02) and the production of anti-Sm Ab (P = 0.04) among SLE patients. Thus, the association of PXK rs6445975 with SLE that was previously observed in Caucasians was not replicated in Koreans or in Hong Kong Chinese. It is possible that PXK has different genetic contribution on SLE between Caucasians and Asians and that the gene is associated with disease subphenotypes rather than with overall susceptibility.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian Continental Ancestry Group / ethnology
  • Asian Continental Ancestry Group / genetics
  • Case-Control Studies
  • European Continental Ancestry Group / ethnology
  • European Continental Ancestry Group / genetics
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / ethnology*
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Hong Kong
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Korea
  • Lupus Erythematosus, Systemic / ethnology*
  • Lupus Erythematosus, Systemic / genetics*
  • Male
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics*
  • Protein-Serine-Threonine Kinases / genetics*


  • Intracellular Signaling Peptides and Proteins
  • Nerve Tissue Proteins
  • PXK protein, human
  • Protein-Serine-Threonine Kinases