Apolipoprotein almutaciok vizsgalata alacsony plazma-HDL-koleszterines apolipoprotein alszint eseten

Translated title of the contribution: Mutational evaluation of the APOAl loci in patients with isolated low HDL cholesterol and ApoAl levels

A. Nemeth, G. Pados, M. Audikovszky, L. Romics, J. C. Cohen, M. G. Scott, A. Császár

Research output: Contribution to journalArticle

Abstract

INTRODUCTION - Low HDL cholesterol and apoAl levels are important risk factors in the development of coronary artery disease. Most of the APOAl mutations associate with premature coronary artery disease in case of family accumulation is due to low levels of these protective factors. PATIENTS AND METHODS - The occurance of APOAl mutations and the frequency of the APOE isoforms were investigated in 40 patients (12 females, 28 males, age 40-49 years) with as low as 5-10th percentile HDL cholesterol (0.5±0.2 mmol/L) and apoAI (104±10 mg/dL) values. Polymerase chain reaction - single-strand conformation polymorphism (PCR-SSCP) analysis has been carried out with 10 pairs of suitable designed primers through the entire APOAl cDNA. Suspected mutations in the APOAl genome (in 12 instances) have been verified with DNA dideoxy-sequencing. RESULTS - New APOAl polymorphism and/or mutation could not be pinpointed despite the HDL cholesterol and apoAl levels were lower than that of the Hungarian standard values. There was no significant difference between the control and the low HDL-cholesterol - apoAl groups regarding the APOE isoforms (E2 0.14 vs. 0.19, E3 0.80 vs. 0.77, E4 0.06 vs. 0.04). CONCLUSION - In clinically asymptomatic subjects with non-familial low HDL cholesterol - apoAl levels, the APOAl mutations seem to be very rare in Hungary, therefore screening for them is probably not indicated.

Original languageHungarian
Pages (from-to)324-329
Number of pages6
JournalLege Artis Medicinae
Volume7
Issue number5
Publication statusPublished - 1997

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HDL Cholesterol
Mutation
Coronary Artery Disease
Protein Isoforms
Hungary
Mutation Rate
DNA Sequence Analysis
Complementary DNA
Genome
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Nemeth, A., Pados, G., Audikovszky, M., Romics, L., Cohen, J. C., Scott, M. G., & Császár, A. (1997). Apolipoprotein almutaciok vizsgalata alacsony plazma-HDL-koleszterines apolipoprotein alszint eseten. Lege Artis Medicinae, 7(5), 324-329.

Apolipoprotein almutaciok vizsgalata alacsony plazma-HDL-koleszterines apolipoprotein alszint eseten. / Nemeth, A.; Pados, G.; Audikovszky, M.; Romics, L.; Cohen, J. C.; Scott, M. G.; Császár, A.

In: Lege Artis Medicinae, Vol. 7, No. 5, 1997, p. 324-329.

Research output: Contribution to journalArticle

Nemeth, A, Pados, G, Audikovszky, M, Romics, L, Cohen, JC, Scott, MG & Császár, A 1997, 'Apolipoprotein almutaciok vizsgalata alacsony plazma-HDL-koleszterines apolipoprotein alszint eseten', Lege Artis Medicinae, vol. 7, no. 5, pp. 324-329.
Nemeth A, Pados G, Audikovszky M, Romics L, Cohen JC, Scott MG et al. Apolipoprotein almutaciok vizsgalata alacsony plazma-HDL-koleszterines apolipoprotein alszint eseten. Lege Artis Medicinae. 1997;7(5):324-329.
Nemeth, A. ; Pados, G. ; Audikovszky, M. ; Romics, L. ; Cohen, J. C. ; Scott, M. G. ; Császár, A. / Apolipoprotein almutaciok vizsgalata alacsony plazma-HDL-koleszterines apolipoprotein alszint eseten. In: Lege Artis Medicinae. 1997 ; Vol. 7, No. 5. pp. 324-329.
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AU - Pados, G.

AU - Audikovszky, M.

AU - Romics, L.

AU - Cohen, J. C.

AU - Scott, M. G.

AU - Császár, A.

PY - 1997

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N2 - INTRODUCTION - Low HDL cholesterol and apoAl levels are important risk factors in the development of coronary artery disease. Most of the APOAl mutations associate with premature coronary artery disease in case of family accumulation is due to low levels of these protective factors. PATIENTS AND METHODS - The occurance of APOAl mutations and the frequency of the APOE isoforms were investigated in 40 patients (12 females, 28 males, age 40-49 years) with as low as 5-10th percentile HDL cholesterol (0.5±0.2 mmol/L) and apoAI (104±10 mg/dL) values. Polymerase chain reaction - single-strand conformation polymorphism (PCR-SSCP) analysis has been carried out with 10 pairs of suitable designed primers through the entire APOAl cDNA. Suspected mutations in the APOAl genome (in 12 instances) have been verified with DNA dideoxy-sequencing. RESULTS - New APOAl polymorphism and/or mutation could not be pinpointed despite the HDL cholesterol and apoAl levels were lower than that of the Hungarian standard values. There was no significant difference between the control and the low HDL-cholesterol - apoAl groups regarding the APOE isoforms (E2 0.14 vs. 0.19, E3 0.80 vs. 0.77, E4 0.06 vs. 0.04). CONCLUSION - In clinically asymptomatic subjects with non-familial low HDL cholesterol - apoAl levels, the APOAl mutations seem to be very rare in Hungary, therefore screening for them is probably not indicated.

AB - INTRODUCTION - Low HDL cholesterol and apoAl levels are important risk factors in the development of coronary artery disease. Most of the APOAl mutations associate with premature coronary artery disease in case of family accumulation is due to low levels of these protective factors. PATIENTS AND METHODS - The occurance of APOAl mutations and the frequency of the APOE isoforms were investigated in 40 patients (12 females, 28 males, age 40-49 years) with as low as 5-10th percentile HDL cholesterol (0.5±0.2 mmol/L) and apoAI (104±10 mg/dL) values. Polymerase chain reaction - single-strand conformation polymorphism (PCR-SSCP) analysis has been carried out with 10 pairs of suitable designed primers through the entire APOAl cDNA. Suspected mutations in the APOAl genome (in 12 instances) have been verified with DNA dideoxy-sequencing. RESULTS - New APOAl polymorphism and/or mutation could not be pinpointed despite the HDL cholesterol and apoAl levels were lower than that of the Hungarian standard values. There was no significant difference between the control and the low HDL-cholesterol - apoAl groups regarding the APOE isoforms (E2 0.14 vs. 0.19, E3 0.80 vs. 0.77, E4 0.06 vs. 0.04). CONCLUSION - In clinically asymptomatic subjects with non-familial low HDL cholesterol - apoAl levels, the APOAl mutations seem to be very rare in Hungary, therefore screening for them is probably not indicated.

KW - ApoE genotyping

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