A MISSENSE MUTATION (THR-6PRO) IN THE LYSOSOMAL ACID LIPASE (LAL) GENE IS PRESENT WITH A HIGH-FREQUENCY IN 3 DIFFERENT ETHNIC POPULATIONS -IMPACT ON SERUM-LIPOPROTEIN CONCENTRATIONS

A frequent missense mutation (Thr-6Pro) found in the prepeptide of the lysosomal acid lipase (LAL) gene was analyzed in a cohort of 1003 ran domly selected samples from Germany, Japan and Sardinia (Italy). Using the mutagenically separated polymerase chain reaction (MS-PCR), allel e frequencies of 0.269, 0.238 and 0.245 were determined in the three p opulations, respectively. Statistical analysis showed a lack of associ ation with a dyslipidemic phenotype in all three groups. Additionally, in a subgroup of 126 German individuals no association was observed b etween genotype and LAL activity. We conclude that this mutation appea rs to be a frequent LAL gene polymorphism causing no impaired function of the enzyme and no measurable dyslipidemia in the general populatio n.