Linked Life Data

12866915

Source:http://linkedlifedata.com/resource/pubmed/id/12866915

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-7-17
pubmed:abstractText
The aim of this study is to assess whether genetic variation at the lipoprotein lipase (LPL) gene is related to fasting triglyceride levels or to the presence of vascular disease. Hypertriglyceridaemic patients are genotyped for the N291S, G188E, and P207L variants and the HindIII and PvuII restriction fragment length polymorphisms of the LPL gene. Sequence analysis is carried out on exons 1-9 of the LPL gene for patients with severe hypertriglyceridaemia, to search for new gene variants. No differences were found between the patient and control group for the N291S, G188E and P207L variants. The HindIII and PvuII allelic frequencies were found to be similar for patients and controls; however, the frequency of the PvuII P2 allele was higher in patients with vascular disease (allele frequency: 0.56) than patients with no vascular disease (allele frequency, 0.42) (P=0.03). Sequence analysis revealed no exon sequence variants in the LPL gene but two intron sequence variants were found in intron 5 in two patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0967-4845
pubmed:author
pubmed:issnType
Print
pubmed:volume
60
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
84-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Genetics of the lipoprotein lipase gene and hypertriglyceridaemia.
pubmed:affiliation
Department of Clinical Chemistry, Belfast City Hospital Trust, Belfast BT9 7AB, Northern Ireland, UK. margaret.mcdonnell@bll.n-i.nhs.uk
pubmed:publicationType
Journal Article