Pancreatic lipase (EC 3.1.1.3) is an exocrine secretion that hydrolyzes die
tary triglycerides in the small intestine. We developed genomic amplificati
on primers to sequence the 13 exons of PNLIP, which encodes pancreatic lipa
se, in order to screen for possible mutations in cell lines of four childre
n with pancreatic lipase deficiency (OMIM 246600). We found no missense or
nonsense mutations in these samples, but we found three silent single-nucle
otide polymorphisms (SNPs), namely, 96A/C in exon 3, 486C/T in exon 6, and
1359C/T in exon 13. In 50 normolipidemic Caucasians. the PNLIP 96C and 486T
alleles had frequencies of 0.083 and 0.150, respectively. The PNLIP 1359T
allele was absent from Caucasian, Chinese, South Asian, and North American
aboriginal samples, but had a frequency of 0.085 in an African sample, sugg
esting that it is a population-specific variant. In an association analysis
of 185 African neonates, the PNLIP 1359C/T SNP genotype was significantly
associated with concentrations of plasma lipoproteins. These associations w
ere most likely due to linkage disequilibrium with another functional varia
nt at or near PNLIP. Thus, we report three new SNPs for the PNLIP, which ma
y serve as markers for association analyses and for pharmacogenetic studies
of pancreatic lipase inhibitors.