schliessen

Filtern

 

Bibliotheken

Genetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia

An XbaI restriction fragment length polymorphism (RFLP) within the coding region of the apolipoprotein B (apoB) gene has been found to be associated with serum cholesterol and triglyceride levels in several populations. Mutations in another genetic locus, the low density lipoprotein (LDL) receptor g... Full description

Journal Title: Human genetics 1989, Vol.82 (4), p.305-307
Main Author: AALTO-SETALA, K
Other Authors: GYLLING, H , HELVE, E , KOVANEN, P , MIETTINEN, T. A , TURTOLA, H , KONTULA, K
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: Heidelberg: Springer
ID: ISSN: 0340-6717
Zum Text:
SendSend as email Add to Book BagAdd to Book Bag
Staff View
recordid: cdi_proquest_miscellaneous_79040699
title: Genetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia
format: Article
creator:
  • AALTO-SETALA, K
  • GYLLING, H
  • HELVE, E
  • KOVANEN, P
  • MIETTINEN, T. A
  • TURTOLA, H
  • KONTULA, K
subjects:
  • Adult
  • Aged
  • Aged, 80 and over
  • Apolipoproteins B - genetics
  • Biological and medical sciences
  • Cholesterol, LDL - blood
  • Deoxyribonucleases, Type II Site-Specific
  • Disorders of blood lipids. Hyperlipoproteinemia
  • Female
  • Genotype
  • Humans
  • Hyperlipoproteinemia Type II - blood
  • Hyperlipoproteinemia Type II - genetics
  • Male
  • Medical sciences
  • Metabolic diseases
  • Middle Aged
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length
ispartof: Human genetics, 1989, Vol.82 (4), p.305-307
description: An XbaI restriction fragment length polymorphism (RFLP) within the coding region of the apolipoprotein B (apoB) gene has been found to be associated with serum cholesterol and triglyceride levels in several populations. Mutations in another genetic locus, the low density lipoprotein (LDL) receptor gene, give rise to familial hypercholesterolemia (FH), a disease characterized by hypercholesterolemia, tendon xanthomas and atherosclerosis. We determined the XbaI genotypes and serum lipoprotein levels of 120 unrelated patients with the heterozygous form of FH. A non-parametric analysis of variance showed a significant association between elevated serum total cholesterol concentration (P less than 0.05), serum LDL-cholesterol concentration (P less than 0.025) and the presence of the XbaI restriction site (X2 allele). Thus, patients homozygous for the presence of the XbaI restriction site (genotype X2X2, n = 28) had on average a 14% higher serum total cholesterol level and a 21% higher serum LDL-cholesterol level than those homozygous for the absence of this site (genotype X1X1, n = 29); patients heterozygous for the XbaI restriction site (genotype X1X2, n = 63) had intermediate serum total and LDL-cholesterol levels. No significant differences were seen in serum triglyceride or high-density lipoprotein (HDL)-cholesterol values between these patient groups. These data demonstrate that genetic polymorphism of the principal ligand for the LDL receptor, apoB, may contribute to serum cholesterol regulation, even in patients with grossly distorted cholesterol homeostasis.
language: eng
source:
identifier: ISSN: 0340-6717
fulltext: no_fulltext
issn:
  • 0340-6717
  • 1432-1203
url: Link


@attributes
NO1
SEARCH_ENGINEprimo_central_multiple_fe
SEARCH_ENGINE_TYPEPrimo Central Search Engine
RANK1.6795886
LOCALfalse
PrimoNMBib
record
control
sourceidproquest_cross
recordidTN_cdi_proquest_miscellaneous_79040699
sourceformatXML
sourcesystemPC
sourcerecordid79040699
originalsourceidFETCH-LOGICAL-c334t-a4d6a0970bf519867244c88f7dec53cd8aea323350fe6591d1c593f5bc419ad70
addsrcrecordideNpt0M9rFDEUB_AgSt1WL96FHMRDYezLZDKZHG21VVjopZ6Ht5kXN5KZjMlMYU_-6410qSKeAnkf3o8vY28EfBAA-uLyGqDW0nTtM7YRjawrUYN8zjYgG6haLfRLdprzDwChTK1O2EmtWt0auWG_bmiixVs-x3AYY5r3Po88Or7siWP59HOcU1zIT_ySfy-Yh2jXzP3kwkqTpcwzpXXk209bbvcxUF4oxcAD3VMojDscffAY-P4wU_qL0OjxFXvhMGR6fXzP2Lfrz3dXX6rt7c3Xq4_bykrZLBU2Q4tgNOycEuVOXTeN7TqnB7JK2qFDQllLqcBRq4wYhFVGOrWzjTA4aDhj7x_7lmN-rmWBfvTZUgg4UVxzrw000BpT4PkjtCnmnMj1c_IjpkMvoP-ddv8n7YLfHruuu5GGJ3qMt9TfHeuYLQaXcLI-PzFd9q07VRj8M9P6BRcfpyWhD_-b_AAI_Jil
sourcetypeAggregation Database
isCDItrue
recordtypearticle
pqid79040699
display
typearticle
titleGenetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia
creatorAALTO-SETALA, K ; GYLLING, H ; HELVE, E ; KOVANEN, P ; MIETTINEN, T. A ; TURTOLA, H ; KONTULA, K
creatorcontribAALTO-SETALA, K ; GYLLING, H ; HELVE, E ; KOVANEN, P ; MIETTINEN, T. A ; TURTOLA, H ; KONTULA, K
descriptionAn XbaI restriction fragment length polymorphism (RFLP) within the coding region of the apolipoprotein B (apoB) gene has been found to be associated with serum cholesterol and triglyceride levels in several populations. Mutations in another genetic locus, the low density lipoprotein (LDL) receptor gene, give rise to familial hypercholesterolemia (FH), a disease characterized by hypercholesterolemia, tendon xanthomas and atherosclerosis. We determined the XbaI genotypes and serum lipoprotein levels of 120 unrelated patients with the heterozygous form of FH. A non-parametric analysis of variance showed a significant association between elevated serum total cholesterol concentration (P less than 0.05), serum LDL-cholesterol concentration (P less than 0.025) and the presence of the XbaI restriction site (X2 allele). Thus, patients homozygous for the presence of the XbaI restriction site (genotype X2X2, n = 28) had on average a 14% higher serum total cholesterol level and a 21% higher serum LDL-cholesterol level than those homozygous for the absence of this site (genotype X1X1, n = 29); patients heterozygous for the XbaI restriction site (genotype X1X2, n = 63) had intermediate serum total and LDL-cholesterol levels. No significant differences were seen in serum triglyceride or high-density lipoprotein (HDL)-cholesterol values between these patient groups. These data demonstrate that genetic polymorphism of the principal ligand for the LDL receptor, apoB, may contribute to serum cholesterol regulation, even in patients with grossly distorted cholesterol homeostasis.
identifier
0ISSN: 0340-6717
1EISSN: 1432-1203
2DOI: 10.1007/BF00273986
3PMID: 2567693
4CODEN: HUGEDQ
languageeng
publisherHeidelberg: Springer
subjectAdult ; Aged ; Aged, 80 and over ; Apolipoproteins B - genetics ; Biological and medical sciences ; Cholesterol, LDL - blood ; Deoxyribonucleases, Type II Site-Specific ; Disorders of blood lipids. Hyperlipoproteinemia ; Female ; Genotype ; Humans ; Hyperlipoproteinemia Type II - blood ; Hyperlipoproteinemia Type II - genetics ; Male ; Medical sciences ; Metabolic diseases ; Middle Aged ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length
ispartofHuman genetics, 1989, Vol.82 (4), p.305-307
rights1989 INIST-CNRS
lds50peer_reviewed
citedbyFETCH-LOGICAL-c334t-a4d6a0970bf519867244c88f7dec53cd8aea323350fe6591d1c593f5bc419ad70
links
openurl$$Topenurl_article
thumbnail$$Usyndetics_thumb_exl
backlink
0$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7350285$$DView record in Pascal Francis
1$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2567693$$D View this record in MEDLINE/PubMed
search
creatorcontrib
0AALTO-SETALA, K
1GYLLING, H
2HELVE, E
3KOVANEN, P
4MIETTINEN, T. A
5TURTOLA, H
6KONTULA, K
title
0Genetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia
1Human genetics
addtitleHum Genet
descriptionAn XbaI restriction fragment length polymorphism (RFLP) within the coding region of the apolipoprotein B (apoB) gene has been found to be associated with serum cholesterol and triglyceride levels in several populations. Mutations in another genetic locus, the low density lipoprotein (LDL) receptor gene, give rise to familial hypercholesterolemia (FH), a disease characterized by hypercholesterolemia, tendon xanthomas and atherosclerosis. We determined the XbaI genotypes and serum lipoprotein levels of 120 unrelated patients with the heterozygous form of FH. A non-parametric analysis of variance showed a significant association between elevated serum total cholesterol concentration (P less than 0.05), serum LDL-cholesterol concentration (P less than 0.025) and the presence of the XbaI restriction site (X2 allele). Thus, patients homozygous for the presence of the XbaI restriction site (genotype X2X2, n = 28) had on average a 14% higher serum total cholesterol level and a 21% higher serum LDL-cholesterol level than those homozygous for the absence of this site (genotype X1X1, n = 29); patients heterozygous for the XbaI restriction site (genotype X1X2, n = 63) had intermediate serum total and LDL-cholesterol levels. No significant differences were seen in serum triglyceride or high-density lipoprotein (HDL)-cholesterol values between these patient groups. These data demonstrate that genetic polymorphism of the principal ligand for the LDL receptor, apoB, may contribute to serum cholesterol regulation, even in patients with grossly distorted cholesterol homeostasis.
subject
0Adult
1Aged
2Aged, 80 and over
3Apolipoproteins B - genetics
4Biological and medical sciences
5Cholesterol, LDL - blood
6Deoxyribonucleases, Type II Site-Specific
7Disorders of blood lipids. Hyperlipoproteinemia
8Female
9Genotype
10Humans
11Hyperlipoproteinemia Type II - blood
12Hyperlipoproteinemia Type II - genetics
13Male
14Medical sciences
15Metabolic diseases
16Middle Aged
17Polymorphism, Genetic
18Polymorphism, Restriction Fragment Length
issn
00340-6717
11432-1203
fulltextfalse
rsrctypearticle
creationdate1989
recordtypearticle
recordideNpt0M9rFDEUB_AgSt1WL96FHMRDYezLZDKZHG21VVjopZ6Ht5kXN5KZjMlMYU_-6410qSKeAnkf3o8vY28EfBAA-uLyGqDW0nTtM7YRjawrUYN8zjYgG6haLfRLdprzDwChTK1O2EmtWt0auWG_bmiixVs-x3AYY5r3Po88Or7siWP59HOcU1zIT_ySfy-Yh2jXzP3kwkqTpcwzpXXk209bbvcxUF4oxcAD3VMojDscffAY-P4wU_qL0OjxFXvhMGR6fXzP2Lfrz3dXX6rt7c3Xq4_bykrZLBU2Q4tgNOycEuVOXTeN7TqnB7JK2qFDQllLqcBRq4wYhFVGOrWzjTA4aDhj7x_7lmN-rmWBfvTZUgg4UVxzrw000BpT4PkjtCnmnMj1c_IjpkMvoP-ddv8n7YLfHruuu5GGJ3qMt9TfHeuYLQaXcLI-PzFd9q07VRj8M9P6BRcfpyWhD_-b_AAI_Jil
startdate1989
enddate1989
creator
0AALTO-SETALA, K
1GYLLING, H
2HELVE, E
3KOVANEN, P
4MIETTINEN, T. A
5TURTOLA, H
6KONTULA, K
generalSpringer
scope
0IQODW
1CGR
2CUY
3CVF
4ECM
5EIF
6NPM
7AAYXX
8CITATION
97X8
sort
creationdate1989
titleGenetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia
authorAALTO-SETALA, K ; GYLLING, H ; HELVE, E ; KOVANEN, P ; MIETTINEN, T. A ; TURTOLA, H ; KONTULA, K
facets
frbrtype5
frbrgroupidcdi_FETCH-LOGICAL-c334t-a4d6a0970bf519867244c88f7dec53cd8aea323350fe6591d1c593f5bc419ad70
rsrctypearticles
prefilterarticles
languageeng
creationdate1989
topic
0Adult
1Aged
2Aged, 80 and over
3Apolipoproteins B - genetics
4Biological and medical sciences
5Cholesterol, LDL - blood
6Deoxyribonucleases, Type II Site-Specific
7Disorders of blood lipids. Hyperlipoproteinemia
8Female
9Genotype
10Humans
11Hyperlipoproteinemia Type II - blood
12Hyperlipoproteinemia Type II - genetics
13Male
14Medical sciences
15Metabolic diseases
16Middle Aged
17Polymorphism, Genetic
18Polymorphism, Restriction Fragment Length
toplevelpeer_reviewed
creatorcontrib
0AALTO-SETALA, K
1GYLLING, H
2HELVE, E
3KOVANEN, P
4MIETTINEN, T. A
5TURTOLA, H
6KONTULA, K
collection
0Pascal-Francis
1Medline
2MEDLINE
3MEDLINE (Ovid)
4MEDLINE
5MEDLINE
6PubMed
7CrossRef
8MEDLINE - Academic
jtitleHuman genetics
delivery
delcategoryRemote Search Resource
fulltextno_fulltext
addata
au
0AALTO-SETALA, K
1GYLLING, H
2HELVE, E
3KOVANEN, P
4MIETTINEN, T. A
5TURTOLA, H
6KONTULA, K
formatjournal
genrearticle
ristypeJOUR
atitleGenetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia
jtitleHuman genetics
addtitleHum Genet
date1989
risdate1989
volume82
issue4
spage305
epage307
pages305-307
issn0340-6717
eissn1432-1203
codenHUGEDQ
abstractAn XbaI restriction fragment length polymorphism (RFLP) within the coding region of the apolipoprotein B (apoB) gene has been found to be associated with serum cholesterol and triglyceride levels in several populations. Mutations in another genetic locus, the low density lipoprotein (LDL) receptor gene, give rise to familial hypercholesterolemia (FH), a disease characterized by hypercholesterolemia, tendon xanthomas and atherosclerosis. We determined the XbaI genotypes and serum lipoprotein levels of 120 unrelated patients with the heterozygous form of FH. A non-parametric analysis of variance showed a significant association between elevated serum total cholesterol concentration (P less than 0.05), serum LDL-cholesterol concentration (P less than 0.025) and the presence of the XbaI restriction site (X2 allele). Thus, patients homozygous for the presence of the XbaI restriction site (genotype X2X2, n = 28) had on average a 14% higher serum total cholesterol level and a 21% higher serum LDL-cholesterol level than those homozygous for the absence of this site (genotype X1X1, n = 29); patients heterozygous for the XbaI restriction site (genotype X1X2, n = 63) had intermediate serum total and LDL-cholesterol levels. No significant differences were seen in serum triglyceride or high-density lipoprotein (HDL)-cholesterol values between these patient groups. These data demonstrate that genetic polymorphism of the principal ligand for the LDL receptor, apoB, may contribute to serum cholesterol regulation, even in patients with grossly distorted cholesterol homeostasis.
cop
0Heidelberg
1Berlin
2New York, NY
pubSpringer
pmid2567693
doi10.1007/BF00273986