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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:
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
Publisher: Heidelberg: Springer
ID: ISSN: 0340-6717
Zum Text:
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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


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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
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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.
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languageeng
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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
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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.
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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
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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
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4Biological and medical sciences
5Cholesterol, LDL - blood
6Deoxyribonucleases, Type II Site-Specific
7Disorders of blood lipids. Hyperlipoproteinemia
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9Genotype
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11Hyperlipoproteinemia Type II - blood
12Hyperlipoproteinemia Type II - genetics
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17Polymorphism, Genetic
18Polymorphism, Restriction Fragment Length
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atitleGenetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia
jtitleHuman genetics
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date1989
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volume82
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pages305-307
issn0340-6717
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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.
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pmid2567693
doi10.1007/BF00273986