1. Different genetic effect of PXK on systemic lupus erythematosus in the Korean population.
- Author
-
Kim EM, Bang SY, Kim I, Shin HD, Park BL, Lee HS, and Bae SC
- Subjects
- Adult, Asian People ethnology, Asian People genetics, Case-Control Studies, Female, Gene Frequency genetics, Genotype, Hong Kong, Humans, Korea, Male, Phenotype, White People ethnology, White People genetics, Genetic Predisposition to Disease ethnology, Genetic Predisposition to Disease genetics, Intracellular Signaling Peptides and Proteins genetics, Lupus Erythematosus, Systemic ethnology, Lupus Erythematosus, Systemic genetics, Nerve Tissue Proteins genetics, Polymorphism, Single Nucleotide genetics, Protein Serine-Threonine Kinases genetics
- Abstract
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.
- Published
- 2012
- Full Text
- View/download PDF