Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response
(1998) In European Journal of Clinical Investigation 28(9). p.740-747- Abstract
- BACKGROUND: Familial hypercholesterolaemia, an autosomal co-dominant disorder caused by defects in the low-density lipoprotein receptor gene, is strongly associated with premature development of cardiovascular disease. METHODS: In this study, we have applied a gene screening method in a population of familial hypercholesterolaemia patients in order to describe the genetic background of the disease in southern Sweden. These patients were studied with the aim of relating the presence of the different mutations to the clinical expression of the disease and to the response to pharmacological treatment. RESULTS: In 16 out of 21 patients, potentially disease-causing low-density lipoprotein receptor gene defects were found, including five not... (More)
- BACKGROUND: Familial hypercholesterolaemia, an autosomal co-dominant disorder caused by defects in the low-density lipoprotein receptor gene, is strongly associated with premature development of cardiovascular disease. METHODS: In this study, we have applied a gene screening method in a population of familial hypercholesterolaemia patients in order to describe the genetic background of the disease in southern Sweden. These patients were studied with the aim of relating the presence of the different mutations to the clinical expression of the disease and to the response to pharmacological treatment. RESULTS: In 16 out of 21 patients, potentially disease-causing low-density lipoprotein receptor gene defects were found, including five not previously described alterations (C240-->F, C122-->stop, C356-->Y, 785insG, 165delG). No defects in apolipoprotein B were found. One group of patients (n = 4) carried the mutation C122-->stop and another group of patients (n = 4) a mutation causing the substitution W66-->G. Patients in the two genotype subgroups were very similar with respect to lipid levels before treatment. CONCLUSION: A tendency towards differential susceptibility to treatment with statins was observed for the patient groups, encouraging further comparative studies of heterozygous FH patients. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1113750
- author
- Ekström, Ulf LU ; Abrahamson, Magnus LU ; Wallmark, Anders LU ; Florén, Claes-Henrik LU and Nilsson-Ehle, Peter LU
- organization
- publishing date
- 1998
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Apolipoprotein B, denaturing gradient gel electrophoresis, familial hypercholesterolaemia, low-density lipoprotein receptor, mutation, single-stranded conformation polymorphism
- in
- European Journal of Clinical Investigation
- volume
- 28
- issue
- 9
- pages
- 740 - 747
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:9767373
- scopus:0031660154
- ISSN
- 0014-2972
- DOI
- 10.1046/j.1365-2362.1998.00355.x
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Division of Clinical Chemistry and Pharmacology (013250300), Emergency medicine/Medicine/Surgery (013240200), Medicine (Lund) (013230025)
- id
- 02bb512d-640e-469b-95f7-5033bb23b838 (old id 1113750)
- date added to LUP
- 2016-04-01 12:11:29
- date last changed
- 2024-01-08 11:41:46
@article{02bb512d-640e-469b-95f7-5033bb23b838, abstract = {{BACKGROUND: Familial hypercholesterolaemia, an autosomal co-dominant disorder caused by defects in the low-density lipoprotein receptor gene, is strongly associated with premature development of cardiovascular disease. METHODS: In this study, we have applied a gene screening method in a population of familial hypercholesterolaemia patients in order to describe the genetic background of the disease in southern Sweden. These patients were studied with the aim of relating the presence of the different mutations to the clinical expression of the disease and to the response to pharmacological treatment. RESULTS: In 16 out of 21 patients, potentially disease-causing low-density lipoprotein receptor gene defects were found, including five not previously described alterations (C240-->F, C122-->stop, C356-->Y, 785insG, 165delG). No defects in apolipoprotein B were found. One group of patients (n = 4) carried the mutation C122-->stop and another group of patients (n = 4) a mutation causing the substitution W66-->G. Patients in the two genotype subgroups were very similar with respect to lipid levels before treatment. CONCLUSION: A tendency towards differential susceptibility to treatment with statins was observed for the patient groups, encouraging further comparative studies of heterozygous FH patients.}}, author = {{Ekström, Ulf and Abrahamson, Magnus and Wallmark, Anders and Florén, Claes-Henrik and Nilsson-Ehle, Peter}}, issn = {{0014-2972}}, keywords = {{Apolipoprotein B; denaturing gradient gel electrophoresis; familial hypercholesterolaemia; low-density lipoprotein receptor; mutation; single-stranded conformation polymorphism}}, language = {{eng}}, number = {{9}}, pages = {{740--747}}, publisher = {{Wiley-Blackwell}}, series = {{European Journal of Clinical Investigation}}, title = {{Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response}}, url = {{http://dx.doi.org/10.1046/j.1365-2362.1998.00355.x}}, doi = {{10.1046/j.1365-2362.1998.00355.x}}, volume = {{28}}, year = {{1998}}, }