Heterozygous familial hypercholesterolaemia: the influence of the mutation type of the low‐density‐lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment

Journal of Internal Medicine

Volumn 237, Issue 1, 1995, Pages 43-48

  VUORIO, A F ^a   OJALA, J P ^b   SARNA, S ^c   TURTOLA, H ^e   TIKKANEN, M J ^b   KONTULA, K ^a,d  

^a Institute of Biotechnology Joensuu ^*  (Finland)

^b First Department of Medicine Joensuu ^*  (Finland)

^c Department of Public Health Joensuu ^*  (Finland)

^d UNIVERSITY OF HELSINKI   (Finland)

^e NORTH KARELIA CENTRAL HOSPITAL   (Finland)

Author keywords

familial hypercholesterolaemia; FH Helsinki; FH North Karelia; LDL cholesterol; lovastatin

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; MEVINOLIN;

ARTICLE; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MUTATION; PRIORITY JOURNAL;

ALLELES; ANALYSIS OF VARIANCE; BLOTTING, SOUTHERN; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA; HETEROZYGOTE; HUMAN; HYPERCHOLESTEROLEMIA, FAMILIAL; LIPIDS; LOVASTATIN; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECEPTORS, LDL; SUPPORT, NON-U.S. GOV'T; TREATMENT OUTCOME;

EID: 0028901701     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/j.1365-2796.1995.tb01138.x     Document Type: Article

References (19)

1. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
2. The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia
3. Clinical features of familial hypercholesterolemia
4. Mutations of low‐density‐lipoprotein receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia
5. Finnish type of low density lipoprotein receptor gene mutation (FH‐Helsinki) deletes exons encoding the carboxy‐terminal part of the receptor and creates an internalization‐defective phenotype
6. The familial hypercholesterolemia (FH)‐North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland
7. Normal DNA polymorphism at the low density lipoprotein receptor (LDLR) locus associated with serum cholesterol level
8. Association of DNA‐haplotypes in the human LDL‐receptor gene with normal serum cholesterol levels
9. Variation in the low density lipoprotein receptor gene is associated with differences in plasma low density lipoprotein cholesterol levels in young and old normal individuals from Italy
10. Comparison between lovastatin and gemfibrozil in the treatment of primary hypercholesterolemia: the Finnish multicenter study
11. Effect of apolipoprotein E polymorphism and Xbal polymorphism of apolipoprotein B on response to lovastatin treatment in familial and non‐familial hypercholesterolaemia
12. Prevalence of familial hypercholesterolemia among young North Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction
13. Ultrasonography in the detection of achilles tendon xanthomata in heterozygous familial hypercholesterolemia
14. Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia: FH‐Espoo
15. Influence of specific mutations at the LDL‐receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia
16. Genetic determinants of responsiveness to the HMG‐CoA reductase inhibitor fluvastatin in patients with molecularly defined heterozygous familial hypercholesterolemia
17. Gene‐gene interaction between the low density lipoprotein receptor and apolipoprotein E loci affects lipid levels
18. Four DNA polymorphisms in the LDL receptor gene; their genetic relationship and use in the study of variation at the LDL receptor locus
19. A PvuII polymorphism of the low density lipoprotein receptor gene is not associated with plasma concentrations of low density lipoproteins including LP(a)