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

[papillon-lefÃ¨vre syndrome]

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 . DKK 1 and HS 3 ST 3 B 1 were shown to play roles in heparan sulfate biosynthesis and the Wnt signaling pathway , respectively . NAF 1 and NPY 1 R were associated with glycoprotein processes and neuropeptide Y receptor activity based on GO categories . PTER , SOX 14 and TM 7 SF 4 were expressed in liver . DPYS and CTSC were found to be associated with dihydropyrimidinuria and Papillon-Lefevre syndrome phenotypes using OMIM . NPY 5 R was found to be associated with dyslipidemia using the Genetic Association Database .