Is responsiveness to lovastatin in familial hypercholesterolaemia heterozygotes influenced by the specific mutation in the low-density lipoprotein receptor gene?

被引:30
作者
Leren, TP [1 ]
Hjermann, I [1 ]
机构
[1] ULLEVAL UNIV HOSP,DEPT PREVENT CARDIOL,OSLO,NORWAY
关键词
cholesterol; familial hypercholesterolaemia; lovastatin; low density lipoprotein receptor; mutations; responsiveness;
D O I
10.1111/j.1365-2362.1995.tb01975.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Lovastatin is one of the most commonly used lipid-lowering drugs in familial hypercholesterolaemia (FH) heterozygotes. In order to study whether the response to lovastatin is influenced by the underlying mutation in the low-density lipoprotein (LDL) receptor gene, the authors compared the response in 24 heterozygotes in whom the mutation has been classified and in 34 heterozygotes in whom the mutation has not been classified. Those possessing a classified mutation had significantly higher pre-trial values of LDL-cholesterol than those possessing an unclassified mutation. However, no difference was found in the response to lovastatin. Nor were there any differences in the response between subjects possessing one of the three different classified mutations. Furthermore, irrespective of whether or not the mutation had been classified, no difference in the response was found between subjects in the upper and lower quartile with respect to pre-trial values of LDL-cholesterol. The authors conclude that the response to lovastatin is independent of both the specific mutation in the LDL receptor gene and the actual cholesterol level in FH heterozygotes.
引用
收藏
页码:967 / 973
页数:7
相关论文
共 26 条
[11]  
Hjermann I, 1980, J Oslo City Hosp, V30, P3
[12]  
Hobbs Helen H., 1992, Human Mutation, V1, P445, DOI 10.1002/humu.1380010602
[13]   INFLUENCE OF SPECIFIC MUTATIONS AT THE LDL-RECEPTOR GENE LOCUS ON THE RESPONSE TO SIMVASTATIN THERAPY IN AFRIKANER PATIENTS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA [J].
JEENAH, M ;
SEPTEMBER, W ;
VANROGGEN, FG ;
DEVILLIERS, W ;
SEFTEL, H ;
MARAIS, D .
ATHEROSCLEROSIS, 1993, 98 (01) :51-58
[14]  
KANE JP, 1982, MED CLIN N AM, P537
[15]   RESPONSE TO HMG COA REDUCTASE INHIBITORS IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA DUE TO THE 10-KB DELETION (FRENCH-CANADIAN MUTATION) OF THE LDL-RECEPTOR GENE [J].
KARAYAN, L ;
QIU, SQ ;
BETARD, C ;
DUFOUR, R ;
ROEDERER, G ;
MINNICH, A ;
DAVIGNON, J ;
GENEST, J .
ARTERIOSCLEROSIS AND THROMBOSIS, 1994, 14 (08) :1258-1263
[16]  
LEITERSDORF E, 1993, CIRCULATION, V87, P35
[17]  
LEREN TP, 1985, CLIN GENET, V27, P458
[18]  
LEREN TP, 1995, HUM GENET, V95, P671
[19]   2 FOUNDER MUTATIONS IN THE LDL RECEPTOR GENE IN NORWEGIAN FAMILIAL HYPERCHOLESTEROLEMIA SUBJECTS [J].
LEREN, TP ;
SOLBERG, K ;
RODNINGEN, OK ;
TONSTAD, S ;
OSE, L .
ATHEROSCLEROSIS, 1994, 111 (02) :175-182
[20]  
LEREN TP, 1988, ATHEROSCLEROSIS, V73, P35