Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1998-5-15
pubmed:abstractText
We have used anchored PCR to amplify and sequence 1400 bp of the 15th intron of the Low Density Lipoprotein (LDL) receptor gene, and have determined oligonucleotides and conditions for the genotyping of the previously reported PvuII polymorphism. The cutting site (CAGCTG) is created by the transition of a CpG to a TpG within the sequence CAGCCG at a position roughly 600 bp 5' from the splice acceptor site of exon 16. Genotype was determined in three population-based samples of healthy individuals. In a group of 318 men and women from Iceland the frequencies of the Intron-15 T (cutting) allele was 0.23 (95% CI, 0.19-0.28) and was similar in men and women. In two groups of men from England (n = 385) and Scotland (n = 320), the frequency was similar, being 0.23 (0.19-0.27) and 0.25 (0.22-0.28) respectively. Individuals who were homozygous for the T allele had lower levels of total-cholesterol triglycerides and apolipoprotein B, than those with other genotypes, and in the combined group of UK men this effect reached statistical significance; compared to the C/C group, the T/T group had 6% lower cholesterol (p = 0.02) and 15% lower triglycerides (p = 0.03). The lowering effect associated with the T/T genotype was greater in men who were in the lowest tertile of body mass index (< 25 kg/m2) and for the trait of apoB levels, this genotype x obesity interaction was statistically significant (p = 0.01). We thus confirm the association between this allele and lower levels of plasma lipid levels previously reported. The availability of a PCR-based method to detect this polymorphism will facilitate further investigation of the impact of LDL-receptor gene variation in determining lipid levels.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0278-0240
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
209-20
pubmed:dateRevised
2008-8-19
pubmed:meshHeading
pubmed-meshheading:9553735-Alleles, pubmed-meshheading:9553735-Apolipoproteins B, pubmed-meshheading:9553735-Base Sequence, pubmed-meshheading:9553735-Body Mass Index, pubmed-meshheading:9553735-Cholesterol, pubmed-meshheading:9553735-DNA Primers, pubmed-meshheading:9553735-Deoxyribonucleases, Type II Site-Specific, pubmed-meshheading:9553735-Female, pubmed-meshheading:9553735-Genotype, pubmed-meshheading:9553735-Humans, pubmed-meshheading:9553735-Iceland, pubmed-meshheading:9553735-Introns, pubmed-meshheading:9553735-Lipids, pubmed-meshheading:9553735-Male, pubmed-meshheading:9553735-Middle Aged, pubmed-meshheading:9553735-Polymerase Chain Reaction, pubmed-meshheading:9553735-Polymorphism, Restriction Fragment Length, pubmed-meshheading:9553735-Receptors, LDL, pubmed-meshheading:9553735-Triglycerides
pubmed:year
1998
pubmed:articleTitle
Detection of the low density lipoprotein receptor gene PvuII intron 15 polymorphism using the polymerase chain reaction: association with plasma lipid traits in healthy men and women.
pubmed:affiliation
Department of Medicine, UCL Medical School, Rayne Institute, London, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't