Genome-wide association study identifies genetic variants in GOT1 determining serum aspartate aminotransferase levels

Journal of Human Genetics

Volumn 56, Issue 11, 2011, Pages 801-805

  Shen, Haiqing ^a   Damcott, Coleen ^a   Shuldiner, Scott R ^a   Chai, Sumbul ^a   Yang, Rongze ^a   Hu, Hong ^a   Gibson, Quince ^a   Ryan, Kathleen A ^a   Mitchell, Braxton D ^a   Gong, Da Wei ^a,b  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b BALTIMORE VA MEDICAL CENTER   (United States)

Author keywords

Amish; AST; gene; GOT1; mutation

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARAGINE; ASPARTATE AMINOTRANSFERASE; GLUCOSE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ADULT; ALLELE; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CARDIOVASCULAR DISEASE; CAUCASIAN; CELL STRAIN HEK293; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 10Q; ENZYME ACTIVITY; GENE DELETION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GLUCOSE BLOOD LEVEL; HOMOZYGOTE; HUMAN; IN VITRO STUDY; INSULIN BLOOD LEVEL; MAJOR CLINICAL STUDY; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AMINO ACID SEQUENCE; AMISH; ASPARTATE AMINOTRANSFERASE, CYTOPLASMIC; BASE SEQUENCE; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT;

EID: 82255196045     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.105     Document Type: Article

References (12)

1. Rosenthal, M. D. & Glew, R. H. Medical Biochemistry: Human Metabolism in Health and Disease 1st ed (Wiley, NJ, USA, 2009).
2. Rej, R. A spartate aminotransferase activity and isoenzyme proportions in human liver tissues. Clin. Chem. 24, 197-199 (1978).
3. Rej, R. Measurement of aspartate aminotransferase activity: effects of oxamate. Clin. Chem. 25, 555-559 (1979). (Pubitemid 9166990)
4. Rahmioglu, N., Andrew, T., Cherkas, L., Surdulescu, G., Swaminathan, R., Spector, T. et al. Epidemiology and genetic epidemiology of the liver function test proteins. PLoS One 4, e4435 (2009).
5. Whitfield, J. B., Zhu, G., Nestler, J. E., Heath, A. C. & Martin, N. G. Genetic covariation between serum gamma-glutamyltransferase activity and cardiovascular risk factors. Clin. Chem. 48, 1426-1431 (2002). (Pubitemid 34925777)
6. Mitchell, B. D., McArdle, P. F., Shen, H., Rampersaud, E., Pollin, T. I., Bielak, L. F. et al. The genetic response to short-term interventions affecting cardiovascular function: Rationale and design of the heredity and phenotype intervention (HAPI) heart study. Am. Heart J. 155, 823-828 (2008).
7. Friedewald, W. T., Levy, R. I. & Fredrickson, D. S. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracen-trifuge. Clin. Chem. 18, 499-502 (1972).
8. Melzer, D., Perry, J. R., Hernandez, D., Corsi, A. M., Stevens, K., Rafferty, I. et al. genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet. 4, e1000072 (2008).
9. Yuan, X., Waterworth, D., Perry, J. R., Lim, N., Song, K., Chambers, J. C. et al. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am. J. Hum. Genet. 83, 520-528 (2008).
10. Pollin, T. I., Damcott, C. M., Shen, H., Ott, S. H., Shelton, J., Horenstein, R. B. et al. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Science 322, 1702-1705 (2008).
11. Shen, H., Damcott, C. M., Rampersaud, E., Pollin, T. I., O'Connell, J. R., Horenstein, R. B. et al. Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish. Arch. Intern. Med. 170, 1850-1855 (2010).
12. Corpet, F. Multiple sequence alignment with hierarchical clustering. Nucleic Acids Res 16, 10881-10890 (1988).