Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up

Hum Mol Genet. 2012 Jun 15;21(12):2825-35. doi: 10.1093/hmg/dds099. Epub 2012 Mar 9.

Abstract

Systemic sclerosis (SSc) is complex autoimmune disease affecting the connective tissue; influenced by genetic and environmental components. Recently, we performed the first successful genome-wide association study (GWAS) of SSc. Here, we perform a large replication study to better dissect the genetic component of SSc. We selected 768 polymorphisms from the previous GWAS and genotyped them in seven replication cohorts from Europe. Overall significance was calculated for replicated significant SNPs by meta-analysis of the replication cohorts and replication-GWAS cohorts (3237 cases and 6097 controls). Six SNPs in regions not previously associated with SSc were selected for validation in another five independent cohorts, up to a total of 5270 SSc patients and 8326 controls. We found evidence for replication and overall genome-wide significance for one novel SSc genetic risk locus: CSK [P-value = 5.04 × 10(-12), odds ratio (OR) = 1.20]. Additionally, we found suggestive association in the loci PSD3 (P-value = 3.18 × 10(-7), OR = 1.36) and NFKB1 (P-value = 1.03 × 10(-6), OR = 1.14). Additionally, we strengthened the evidence for previously confirmed associations. This study significantly increases the number of known putative genetic risk factors for SSc, including the genes CSK, PSD3 and NFKB1, and further confirms six previously described ones.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • CSK Tyrosine-Protein Kinase
  • Cohort Studies
  • Europe
  • Follow-Up Studies
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study / methods*
  • Genotype
  • Humans
  • Interferon Regulatory Factors / genetics
  • Meta-Analysis as Topic
  • NF-kappa B p50 Subunit / genetics
  • Odds Ratio
  • Polymorphism, Single Nucleotide*
  • Protein-Tyrosine Kinases / genetics*
  • Risk Factors
  • Scleroderma, Systemic / genetics*
  • beta Karyopherins / genetics
  • src-Family Kinases

Substances

  • IRF5 protein, human
  • Interferon Regulatory Factors
  • NF-kappa B p50 Subunit
  • NFKB1 protein, human
  • TNPO3 protein, human
  • beta Karyopherins
  • interferon regulatory factor-8
  • Protein-Tyrosine Kinases
  • CSK Tyrosine-Protein Kinase
  • src-Family Kinases
  • CSK protein, human