Human Molecular Genetics Advance Access published online on July 29, 2003
Human Molecular Genetics, doi:10.1093/hmg/ddg255
© 2003 by Oxford University Press
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1 School and Graduate Institute of Medical Technology, No. 7, Chung-Shan S. Rd., Taipei, 100 Taiwan; Department of Laboratory Medicine, National Taiwan University Hospital, Taipei, Taiwan
* To whom correspondence should be addressed. E-mail: jtkao{at}ha.mc.ntu.edu.tw.
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, 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 (T/T 92.5 ± 37.8 mg/dl, G/T 106.6 ± 34.8 mg/dl, G/G 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 on APOA5 as prognostic indicators for hypertriglyceridemia susceptibility in Chinese.
Article
A novel genetic variation of apolipoprotein A5 gene is associated with hypertriglyceridemia
2 School and Graduate Institute of Medical Technology, College of Medicine, National Taiwan University, Taipei, Taiwan
3 Graduate Institute of Preventive Medicine, College of Public School, National Taiwan University, Taipei, Taiwan
4 Department of Pathology, College of Medicine, National Taiwan University, Taipei, Taiwan
5 School and Graduate Institute of Medical Technology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Laboratory Medicine, National Taiwan University Hospital, Taipei, Taiwan
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