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.
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 transitio...
Main Authors: | , , , , , , , |
---|---|
Format: | Article in Journal/Newspaper |
Language: | unknown |
Published: |
1998
|
Subjects: | |
Online Access: | http://discovery.ucl.ac.uk/97264/ |
id |
ftucl:oai:eprints.ucl.ac.uk.OAI2:97264 |
---|---|
record_format |
openpolar |
spelling |
ftucl:oai:eprints.ucl.ac.uk.OAI2:97264 2023-05-15T16:49:41+02:00 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. Gudnason, V Zhou, T Thormar, K Baehring, S Cooper, J Miller, G Humphries, SE Schuster, H 1998-02 http://discovery.ucl.ac.uk/97264/ unknown Dis Markers , 13 (4) pp. 209-220. (1998) Alleles Apolipoproteins B Base Sequence Body Mass Index Cholesterol DNA Primers Deoxyribonucleases Type II Site-Specific Female Genotype Humans Iceland Introns Lipids Male Middle Aged Polymerase Chain Reaction Polymorphism Restriction Fragment Length Receptors LDL Triglycerides Article 1998 ftucl 2016-01-15T02:29:33Z 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. Article in Journal/Newspaper Iceland University College London: UCL Discovery |
institution |
Open Polar |
collection |
University College London: UCL Discovery |
op_collection_id |
ftucl |
language |
unknown |
topic |
Alleles Apolipoproteins B Base Sequence Body Mass Index Cholesterol DNA Primers Deoxyribonucleases Type II Site-Specific Female Genotype Humans Iceland Introns Lipids Male Middle Aged Polymerase Chain Reaction Polymorphism Restriction Fragment Length Receptors LDL Triglycerides |
spellingShingle |
Alleles Apolipoproteins B Base Sequence Body Mass Index Cholesterol DNA Primers Deoxyribonucleases Type II Site-Specific Female Genotype Humans Iceland Introns Lipids Male Middle Aged Polymerase Chain Reaction Polymorphism Restriction Fragment Length Receptors LDL Triglycerides Gudnason, V Zhou, T Thormar, K Baehring, S Cooper, J Miller, G Humphries, SE Schuster, H 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. |
topic_facet |
Alleles Apolipoproteins B Base Sequence Body Mass Index Cholesterol DNA Primers Deoxyribonucleases Type II Site-Specific Female Genotype Humans Iceland Introns Lipids Male Middle Aged Polymerase Chain Reaction Polymorphism Restriction Fragment Length Receptors LDL Triglycerides |
description |
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. |
format |
Article in Journal/Newspaper |
author |
Gudnason, V Zhou, T Thormar, K Baehring, S Cooper, J Miller, G Humphries, SE Schuster, H |
author_facet |
Gudnason, V Zhou, T Thormar, K Baehring, S Cooper, J Miller, G Humphries, SE Schuster, H |
author_sort |
Gudnason, V |
title |
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. |
title_short |
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. |
title_full |
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. |
title_fullStr |
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. |
title_full_unstemmed |
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. |
title_sort |
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. |
publishDate |
1998 |
url |
http://discovery.ucl.ac.uk/97264/ |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
Dis Markers , 13 (4) pp. 209-220. (1998) |
_version_ |
1766039853118521344 |