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A replication study of genome-wide CNV association for hepatic biomarkers identifies nine genes associated with liver function
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  • A replication study of genome-wide CNV association for hepatic biomarkers identifies nine genes associated with liver function
  • A replication study of genome-wide CNV association for hepatic biomarkers identifies nine genes associated with liver function
저자명
Kim. Hyo-Young,Byun. Mi-Jeong,Kim. Hee-Bal
간행물명
BMB reports
권/호정보
2011년|44권 9호|pp.578-583 (6 pages)
발행정보
생화학분자생물학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) are biochemical markers used to test for liver diseases. Copy number variation (CNV) plays an important role in determining complex traits and is an emerging area in the study various diseases. We performed a genome-wide association study with liver function biomarkers AST and ALT in 407 unrelated Koreans. We assayed the genome-wide variations on an Affymetrix Genome-Wide 6.0 array, and CNVs were analyzed using HelixTree. Using single linear regression, 32 and 42 CNVs showed significance for AST and ALT, respectively (P value < 0.05). We compared CNV-based genes between the current study (KARE2; AST-140, ALT-172) and KARE1 (AST-1885, ALT-773) using NetBox. Results showed 9 genes (CIDEB, DFFA, PSMA3, PSMC5, PSMC6, PSMD12, PSMF1, SDC4, and SIAH1) were overlapped for AST, but no overlapped genes were found for ALT. Functional gene annotation analysis shown the proteasome pathway, Wnt signaling pathway, programmed cell death, and protein binding.