Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol

• Main Authors: Genest Jacques (Author), Engert James C (Author), Ruel Isabelle L (Author), Dastani Zari (Author), Marcil Michel (Author)
• Format: Book
• Published: BMC, 2007-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>Background</p> <p>Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase-1 (<it>SMPD1</it>) gene. In Niemann-Pick patients, <it>SMPD1 </it>gene defects are reported to be associated with a severe reduction in plasma high-density lipoprotein (HDL) cholesterol.</p> <p>Methods</p> <p>Two common coding polymorphisms in the <it>SMPD1 </it>gene, the G1522A (G508R) and a hexanucleotide repeat sequence within the signal peptide region, were investigated in 118 unrelated subjects of French Canadian descent with low plasma levels of HDL-cholesterol (< 5^thpercentile for age and gender-matched subjects). Control subjects (n = 230) had an HDL-cholesterol level > the 25^thpercentile.</p> <p>Results</p> <p>For G1522A the frequency of the G and A alleles were 75.2% and 24.8% respectively in controls, compared to 78.6% and 21.4% in subjects with low HDL-cholesterol (<it>p </it>= 0.317). The frequency of 6 and 7 hexanucleotide repeats was 46.2% and 46.6% respectively in controls, compared to 45.6% and 49.1% in subjects with low HDL-cholesterol (<it>p </it>= 0.619). Ten different haplotypes were observed in cases and controls. Overall haplotype frequencies in cases and controls were not significantly different.</p> <p>Conclusion</p> <p>These results suggest that the two common coding variants at the <it>SMPD1 </it>gene locus are not associated with low HDL-cholesterol levels in the French Canadian population.</p>

Item Description

10.1186/1471-2350-8-79
1471-2350