Genomics Inform.  2013 Sep;11(3):149-154. 10.5808/GI.2013.11.3.149.

Genome-Wide Association Study of Liver Enzymes in Korean Children

Affiliations
  • 1Division of Structural and Functional Genomics, Center for Genome Science, Korea National Institute of Health, Cheongwon 363-951, Korea. kbj6181@cdc.go.kr
  • 2Division of Metabolic Diseases, Center for Biomedical Sciences, Korea National Institute of Health, Cheongwon 363-951, Korea.
  • 3Department of Family Medicine, Obesity Research Institute, Inje University Seoul Paik Hospital, Inje University College of Medicine, Seoul 100-032, Korea.
  • 4Department of Family Medicine, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang 431-796, Korea.
  • 5Department of Family Medicine, Hallym University Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 150-950, Korea.
  • 6Ministry of Health and Welfare, Seoul 110-793, Korea. leejy63@nih.go.kr

Abstract

Liver enzyme elevations, as an indicator of liver function, are widely associated with metabolic diseases. Genome-wide population-based association studies have identified a genetic susceptibility to liver enzyme elevations and their related traits; however, the genetic architecture in childhood remains largely unknown. We performed a genome-wide association study to identify new genetic loci for liver enzyme levels in a Korean childhood cohort (n = 484). We observed three novel loci (rs4949718, rs80311637, and rs596406) that were multiply associated with elevated levels of alanine transaminase and aspartate transaminase. Although there are some limitations, including genetic power, additional replication and functional characterization will support the clarity on the genetic contribution that the ST6GALNAC3, ADAMTS9, and CELF2 genes have in childhood liver function.

Keyword

alanine transaminase; aspartate transaminase; childhood liver enzyme; genome-wide association study
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