Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy
Open Access
- 5 August 2003
- journal article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 12 (19) , 2481-2489
- https://doi.org/10.1093/hmg/ddg256
Abstract
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 (PP=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; PT polymorphisms in APOA5 as prognostic indicators for hypertriglyceridemia susceptibility in Chinese.Keywords
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