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Human Molecular Genetics Advance Access originally published online on July 29, 2003
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Human Molecular Genetics, 2003, Vol. 12, No. 19 2533-2539
DOI: 10.1093/hmg/ddg255
© 2003 Oxford University Press

A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia

Jau-Tsuen Kao1,2,*, Hui-Chin Wen1, Kuo-Liong Chien3, Hey-Chi Hsu4 and Shu-Wha Lin1,2

1School and Graduate Institute of Medical Technology, College of Medicine, National Taiwan University, Taipei, Taiwan, 2Department of Laboratory Medicine, National Taiwan University Hospital, Taipei, Taiwan, 3Graduate Institute of Preventive Medicine, College of Public School, National Taiwan University, Taipei, Taiwan and 4Department of Pathology, College of Medicine, National Taiwan University, Taipei, Taiwan

Received May 23, 2003; Accepted July 20, 2003

The apolipoprotein A5 gene (APOA5 ) has been shown to play an important role in determining plasma triglyceride concentrations in humans. We describe here a novel variant, c.553G>T, in the apolipoprotein A5 gene that is associated with hypertriglyceridemia. In contrast to some other polymorphisms, which occur in non-coding regions of the gene, this variant occurs within the coding region and causes the change of amino acid sequence (a substitution of a cysteine for a glycine residue). The minor allele frequencies were 0.042 and 0.27 (P<0.001) for control and hypertriglyceridemic patients, respectively. The serum triglyceride level was significantly different among the genotypic groups (G/G 92.5±37.8 mg/dl, G/T 106.6±34.8 mg/dl, T/T 183.0 mg/dl, P=0.014) in control subjects. Multiple logistic regression revealed individuals carrying the minor allele had age, gender and BMI (body mass index)-adjusted odds ratio of 11.73 (95% confidence interval of 6.617–20.793; P<0.0001) for developing hypertriglyceridemia in comparison to individuals without that allele. These findings suggest the possible use of c.553G>T polymorphisms in APOA5 as prognostic indicators for hypertriglyceridemia susceptibility in Chinese.

* To whom correspondence should be addressed at: School and Graduate Institute of Medical Technology, No. 7, Chung-Shan S. Rd, Taipei, 100 Taiwan. Tel: +886 223123456, ext. 6904; Fax: +886 223711574; Email: jtkao{at}ha.mc.ntu.edu.tw


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