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Titolo:
Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits
Autore:
Hegele, RA; Ramdath, DD; Ban, MR; Carruthers, MN; Carrington, CV; Cao, HN;
Indirizzi:
John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, Canada John P Robarts Res Inst London ON Canada N6A 5K8 ndon, ON N6A 5K8, Canada Univ W Indies, Fac Med Sci, Dept Biochem, St Augustine, Trinid & Tobago Univ W Indies St Augustine Trinid & Tobago t Augustine, Trinid & Tobago
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 6, volume: 46, anno: 2001,
pagine: 320 - 324
SICI:
1434-5161(2001)46:6<320:PIPEPL>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
2 RELATED PROTEINS; NEWBORNS; GENE; EXPRESSION; WEIGHT;
Keywords:
lipolysis; lipids; ethnicity; complex traits; DNA sequencing; mutation; metabolism;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: Hegele, RA John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, 406-100 Perth Dr,London, ON N6A 5K8, Canada John P Robarts Res Inst 406-100 PerthDr London ON Canada N6A 5K8
Citazione:
R.A. Hegele et al., "Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits", J HUM GENET, 46(6), 2001, pp. 320-324

Abstract

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 the 13 exons of PNLIP, which encodes pancreatic lipase, in order to screen for possible mutations in cell lines of four children with pancreatic lipase deficiency (OMIM 246600). We found no missense ornonsense mutations in these samples, but we found three silent single-nucleotide polymorphisms (SNPs), namely, 96A/C in exon 3, 486C/T in exon 6, and1359C/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 1359Tallele was absent from Caucasian, Chinese, South Asian, and North Americanaboriginal samples, but had a frequency of 0.085 in an African sample, suggesting that it is a population-specific variant. In an association analysis of 185 African neonates, the PNLIP 1359C/T SNP genotype was significantlyassociated with concentrations of plasma lipoproteins. These associations were most likely due to linkage disequilibrium with another functional variant at or near PNLIP. Thus, we report three new SNPs for the PNLIP, which may serve as markers for association analyses and for pharmacogenetic studies of pancreatic lipase inhibitors.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 13:43:12