Polymorphisms in PNLIP , encoding pancreatic lipase, and associations with metabolic traits

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