Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals

التفاصيل البيبلوغرافية
العنوان: Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals
المؤلفون: Dilip D. Patel, Xi-Ming Sun, S. E. Humphries, Vilmundur Gudnason, Anne K. Soutar, Brian L. Knight
المصدر: Clinical Genetics. 47:68-74
بيانات النشر: Wiley, 2008.
سنة النشر: 2008
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Apolipoprotein B, Lipoproteins, Molecular Sequence Data, Population, Iceland, CHO Cells, Transfection, Exon, Polymorphism (computer science), Cricetinae, Internal medicine, Genetics, medicine, Animals, Humans, Allele, education, Genetics (clinical), Aged, chemistry.chemical_classification, education.field_of_study, Base Sequence, biology, Cholesterol, LDL, Middle Aged, Lipids, Amino acid, Lipoproteins, LDL, Endocrinology, Receptors, LDL, chemistry, Biochemistry, LDL receptor, Cats, biology.protein, Female, lipids (amino acids, peptides, and proteins), Restriction fragment length polymorphism, Polymorphism, Restriction Fragment Length
الوصف: We have examined the effect on plasma lipid levels of a single base change in exon 8 of the LDL receptor gene that causes an amino acid change Ala 370 to Thr in a sample of 318 Icelandic individuals selected at random from the general population. The change destroys a StuI restriction site and was detected by digestion of pooled samples in groups of 5. The frequency of the loss of the cutting site was 0.05 (95% CI = 0.014-0.054). In men, those with the Thr allele (n = 18) had 8.3% higher total cholesterol, 11.8% higher LDL cholesterol and 10.3% higher apolipoprotein B than those with the common Ala allele, whereas in women those with the Thr allele (n = 12) had levels lower by 7.4%, 13.3% and 10.1% respectively. These differences reached statistical significance only in the men (p < 0.05). Functional analysis of CHO cells transfected with constructs of the LDL receptor cDNA carrying the Ala370 and Thr370 alleles showed that within the limits of the assays there was no difference in function of the LDL receptor protein as measured by uptake and degradation of LDL. The data raise the possibility that amino acid substitutions that could affect LDL receptor function below the limits of detection by conventional assays, may have an effect on plasma lipid levels in the general population.
تدمد: 1399-0004
0009-9163
DOI: 10.1111/j.1399-0004.1995.tb03926.x
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66774bab434c181b310b3d0d8bc83170
https://doi.org/10.1111/j.1399-0004.1995.tb03926.x
Rights: CLOSED
رقم الانضمام: edsair.doi.dedup.....66774bab434c181b310b3d0d8bc83170
قاعدة البيانات: OpenAIRE
الوصف
تدمد:13990004
00099163
DOI:10.1111/j.1399-0004.1995.tb03926.x