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Background  Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase-1 ( SMPD1 ) gene. In Niemann-Pick patients,  SMPD1  gene defects are reported to be associated with a severe reduction in plasma high-density lipoprotein (HDL) cholesterol.    Methods  Two common coding polymorphisms in the  SMPD1  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 th  percentile for age and gender-matched subjects). Control subjects (n = 230) had an HDL-cholesterol level > the 25 th  percentile.    Results  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 ( p  = 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 ( p  = 0.619). Ten different haplotypes were observed in cases and controls. Overall haplotype frequencies in cases and controls were not significantly different.    Conclusion  These results suggest that the two common coding variants at the  SMPD1  gene locus are not associated with low HDL-cholesterol levels in the French Canadian population.

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