title: A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations.
abstract: A frequent missense mutation (Thr-6Pro) found in the prepeptide of the lysosomal acid lipase (LAL) gene was analyzed in a cohort of 1003 randomly selected samples from Germany, Japan and Sardinia (Italy). Using the mutagenically separated polymerase chain reaction (MS-PCR), allele frequencies of 0.269, 0.238 and 0.245 were determined in the three populations, respectively. Statistical analysis showed a lack of association with a dyslipidemic phenotype in all three groups. Additionally, in a subgroup of 126 German individuals no association was observed between genotype and LAL activity. We conclude that this mutation appears to be a frequent LAL gene polymorphism causing no impaired function of the enzyme and no measurable dyslipidemia in the general population.
authors.affiliation: Institut für Arterioskleroseforschung, Universität Münster, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Muntoni
authors.forename: H
authors.initials: H
authors.lastname: Wiebusch
authors.forename: H
authors.initials: H
authors.lastname: Funke
authors.forename: U
authors.initials: U
authors.lastname: Seedorf
authors.forename: M
authors.initials: M
authors.lastname: Roskos
authors.forename: H
authors.initials: H
authors.lastname: Schulte
authors.forename: K
authors.initials: K
authors.lastname: Saku
authors.forename: K
authors.initials: K
authors.lastname: Arakawa
authors.forename: A
authors.initials: A
authors.lastname: Balestrieri
authors.forename: G
authors.initials: G
authors.lastname: Assmann
mesh_terms: D001483:Base Sequence; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005858:Germany; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy; D007564:Japan; D008049:Lipase / Q000235:genetics* / Q000378:metabolism; D008074:Lipoproteins / Q000097:blood*; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D008074:Lipoproteins; D008049:Lipase