PMID: 9553735Apr 29, 1998Paper

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

Disease Markers
V GudnasonH Schuster

Abstract

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 ...Continue Reading

Citations

Dec 10, 2013·BioMed Research International·Elaine Regina Delicato de AlmeidaMaria Angelica Ehara Watanabe
Dec 21, 2006·Archives of Suicide Research : Official Journal of the International Academy for Suicide Research·Dan RujescuIna Giegling
Dec 29, 2013·Journal of Lipid Research·Michal Herman-EdelsteinUzi Gafter
Mar 17, 2004·Journal of Affective Disorders·Aleksandra LalovicGustavo Turecki

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