Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT

BMB Rep. 2010 Aug;43(8):547-53. doi: 10.5483/bmbrep.2010.43.8.547.


Biochemical tests such as aspartate aminotransferase (AST) and alanine aminotransferase (ALT) are useful for diagnosing patients with liver disease. In this study, we tested the association between copy number variation and the hepatic biomarkers AST and ALT based on 8,842 samples from population-based cohorts in Korea. We used Affymetrix Genome-Wide Human 5.0 arrays and identified 10,534 CNVs using HelixTree software. Of the CNVs tested using univariate linear regression, 100 CNVs were significant for AST and 16 were significant for ALT (P < 0.05). We identified 39 genes located within the CNV regions. DKK1 and HS3ST3B1 were shown to play roles in heparan sulfate biosynthesis and the Wnt signaling pathway, respectively. NAF1 and NPY1R were associated with glycoprotein processes and neuropeptide Y receptor activity based on GO categories. PTER, SOX14 and TM7SF4 were expressed in liver. DPYS and CTSC were found to be associated with dihydropyrimidinuria and Papillon-Lefevre syndrome phenotypes using OMIM. NPY5R was found to be associated with dyslipidemia using the Genetic Association Database.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alanine Transaminase / blood*
  • Asian People / genetics*
  • Aspartate Aminotransferases / blood*
  • Biomarkers / blood
  • Cohort Studies
  • DNA Copy Number Variations*
  • Databases, Genetic
  • Female
  • Gene Frequency
  • Genome, Human
  • Genome-Wide Association Study
  • Glycoproteins / metabolism
  • Heparitin Sulfate / biosynthesis
  • Humans
  • Liver Diseases / enzymology
  • Liver Diseases / genetics*
  • Male
  • Middle Aged
  • Receptors, Neuropeptide Y / metabolism
  • Republic of Korea
  • Signal Transduction
  • Software
  • Wnt Proteins / metabolism


  • Biomarkers
  • Glycoproteins
  • Receptors, Neuropeptide Y
  • Wnt Proteins
  • Heparitin Sulfate
  • Aspartate Aminotransferases
  • Alanine Transaminase