TaqMan Systems for Genotyping of Disease-Related Polymorphisms Present in the Gene Encoding Apolipoprotein E
-
Werner Koch
Abstract
Polymorphisms of the gene encoding apolipoprotein E have been implicated in the pathogenesis of peripheral and coronary artery disease and neurodegenerative disorders such as sporadic and late-onset familial forms of Alzheimer's disease. We have developed TaqMan assay systems for the single nucleotide polymorphisms −219G/T, located in the promoter of the apolipoprotein E gene, 113G/C, present in the transcriptional enhancer element of intron 1, 334T/C, determining Cys or Arg as amino acid residue 112 of mature apolipoprotein E, and 472C/T, determining Arg or Cys as residue 158. The accuracy of genotype determination with the TaqMan systems was demonstrated by analyses with restriction endonucleases. We determined the genotypes of the apolipoprotein E polymorphisms in 2349 study subjects. The genotypes were distributed as: −219GG=27.3%, −219GT=49.1%, and −219TT=23.6% (p=0.435); 113GG=41.3%, 113GC=45.2%, and 113CC=13.5% (p=0.343); 334TT=73.4%, 334TC=24.7%, and 334CC=1.9% (p=0.539); 472CC=86.3%, 472CT=12.8%, and 472TT=0.9% (p=0.004) (Hardy-Weinberg equilibrium estimates are given in parentheses). The allele combinations which define the three major isoforms of apolipoprotein E, namely apoE2, apoE3, and apoE4, had the following allele frequencies: 334T/472T (∊2; 112Cys/158Cys)=7.3%, 334T/472C (∊3; 112Cys/158Arg)=78.4%, and 334C/472C (∊4; 112Arg/158Arg)=14.2%, respectively. ApoE genotypes were distributed as: ∊2∊2=0.9%, ∊2∊3=11.2%, ∊2∊4=1.6%, ∊3∊3=61.3%, ∊3∊4=23.1%, and ∊4∊4=1.9% (p=0.014). The TaqMan assays allow for fast and sensitive genotyping and are especially suitable for studies including large numbers of participants.
Copyright © 2002 by Walter de Gruyter GmbH & Co. KG
Articles in the same Issue
- Sickle Cell Disease – Pathophysiology, Clinical and Diagnostic Implications
- Family Studies: Their Role in the Evaluation of Genetic Cardiovascular Risk Factors
- Polymorphisms in the Lipopolysaccharide-Binding Protein and Bactericidal/Permeability-Increasing Protein in Patients with Myocardial Infarction
- Effect of S-(1,2-Dicarboxyethyl) Glutathione and S-(1,2-Dicarboxyethyl) Cysteine on the Stimulus-Induced Superoxide Generation and Tyrosyl Phosphorylation of Proteins in Human Neutrophils
- Hyperhomocysteinemia Is Related to a Decreased Blood Level of Vitamin B12 in the Second and Third Trimester of Normal Pregnancy
- Frequencies of Q188R and N314D Mutations and IVS5-24G>A Intron Variation in the Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in the Slovenian Population
- Umbilical Cord and Maternal Blood Leptin Concentrations in Intrauterine Growth Retardation
- Blood Concentrations of Selenium, Zinc, Iron, Copper and Calcium in Patients with Hepatocellular Carcinoma
- TaqMan Systems for Genotyping of Disease-Related Polymorphisms Present in the Gene Encoding Apolipoprotein E
- Antioxidant Status in Thyroid Dysfunction
- Diagnostic Efficiency of Cystatin C and Serum Creatinine as Markers of Reduced Glomerular Filtration Rate in the Elderly
- Comparing Different Methods for Homocysteine Determination
- Classification of Renal Proteinuria: A Simple Algorithm
- Reference Ranges for Serum Concentrations of Lutropin (LH), Follitropin (FSH), Estradiol (E2), Prolactin, Progesterone, Sex Hormone-Binding Globulin (SHBG), Dehydroepiandrosterone Sulfate (DHEAS), Cortisol and Ferritin in Neonates, Children and Young Adults
- Validation of a Kinetic Model for the Reactions in RIA
- Automated Counting of Cells in Cerebrospinal Fluid Using the CellDyn-4000 Haematology Analyser
- Urine Trans,trans-muconic Acid Levels in Residents of a Business Area of Bangkok, Thailand
- Hemoglobin Electrophoresis in Thai Non-Anemic Pregnant Subjects, a Need for Additional Screening for Hemoglobin E
- Meetings and Awards
Articles in the same Issue
- Sickle Cell Disease – Pathophysiology, Clinical and Diagnostic Implications
- Family Studies: Their Role in the Evaluation of Genetic Cardiovascular Risk Factors
- Polymorphisms in the Lipopolysaccharide-Binding Protein and Bactericidal/Permeability-Increasing Protein in Patients with Myocardial Infarction
- Effect of S-(1,2-Dicarboxyethyl) Glutathione and S-(1,2-Dicarboxyethyl) Cysteine on the Stimulus-Induced Superoxide Generation and Tyrosyl Phosphorylation of Proteins in Human Neutrophils
- Hyperhomocysteinemia Is Related to a Decreased Blood Level of Vitamin B12 in the Second and Third Trimester of Normal Pregnancy
- Frequencies of Q188R and N314D Mutations and IVS5-24G>A Intron Variation in the Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in the Slovenian Population
- Umbilical Cord and Maternal Blood Leptin Concentrations in Intrauterine Growth Retardation
- Blood Concentrations of Selenium, Zinc, Iron, Copper and Calcium in Patients with Hepatocellular Carcinoma
- TaqMan Systems for Genotyping of Disease-Related Polymorphisms Present in the Gene Encoding Apolipoprotein E
- Antioxidant Status in Thyroid Dysfunction
- Diagnostic Efficiency of Cystatin C and Serum Creatinine as Markers of Reduced Glomerular Filtration Rate in the Elderly
- Comparing Different Methods for Homocysteine Determination
- Classification of Renal Proteinuria: A Simple Algorithm
- Reference Ranges for Serum Concentrations of Lutropin (LH), Follitropin (FSH), Estradiol (E2), Prolactin, Progesterone, Sex Hormone-Binding Globulin (SHBG), Dehydroepiandrosterone Sulfate (DHEAS), Cortisol and Ferritin in Neonates, Children and Young Adults
- Validation of a Kinetic Model for the Reactions in RIA
- Automated Counting of Cells in Cerebrospinal Fluid Using the CellDyn-4000 Haematology Analyser
- Urine Trans,trans-muconic Acid Levels in Residents of a Business Area of Bangkok, Thailand
- Hemoglobin Electrophoresis in Thai Non-Anemic Pregnant Subjects, a Need for Additional Screening for Hemoglobin E
- Meetings and Awards
