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Wyszukujesz frazę "familial hypercholesterolemia" wg kryterium: Temat

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    Tytuł:
    Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study
    Autorzy:
    Almigbal, Turky
    Batais, Mohammed
    Hasanato, Rana
    Alharbi, Fawaziah
    Khan, Imran
    Alharbi, Khalid
    Powiązania:
    https://bibliotekanauki.pl/articles/1038371.pdf
    Data publikacji:
    2018
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    familial hypercholesterolemia
    ApoE gene
    TaqMan assay
    Saudi population.
    Opis:
    Familial Hypercholesterolemia (FH) is characterized by elevated cholesterol and based on biochemical, clinical, and genetic studies and FH disease, which was documented even with limited mutations. Earlier studies focused on Apolipoprotein E (ApoE) in variable diseases. The current study aimed to investigate the genetic association between FH disease and ApoE gene polymorphisms (rs429358 and rs7412) in the Saudi population. This case-control study was a hospital-based study performed in Saudi Arabia. Two hundred and four subjects in total were recruited and consisted of FH participants (n=104) and the controls (n=100). Common polymorphisms of ApoE gene (rs429358 and rs7412) were chosen and subjected to the genotyping using the TaqMan assay. Moreover, the ApoE risk allele E4 was proved significantly associated with FH cases when compared with controls (OR-2.24 (95%CI: 1.06-4.70); p=0.02). Lipid profile parameters were significantly associated (p<0.05); however, the ApoE alleles and lipid profiles were not correlated (p>0.05). In conclusion, the FH case-control study was associated with the E4 allele in the Saudi population. However, E4 allele was appeared as a reliable risk marker for lipid profiles, but not for ApoE alleles.
    Źródło:
    Acta Biochimica Polonica; 2018, 65, 3; 415-420
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population
    Autorzy:
    Alharbi, Khalid
    Kashour, Tarek
    Al-Hussaini, Wejdan
    Nbaheen, May
    Hasanato, Rana
    Mohamed, Sarar
    Tamimi, Waleed
    Khan, Imran
    Powiązania:
    https://bibliotekanauki.pl/articles/1039005.pdf
    Data publikacji:
    2015
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    DNA sequencing
    familial hypercholesterolemia
    LDLR gene
    Saudi population
    Opis:
    Familial hypercholesterolemia (FH) is caused by genetic defects involving the low density lipoprotein-receptor (LDL-R), predisposing affected people to premature atherosclerotic cardiovascular disease and death. The aim of the present study was to assess certain exons in the LDLR gene mutation detection analysis affecting in the Saudi population with FH. This case-control study was carried out with 200 subjects; 100 were FH cases and 100 were healthy controls. Five mL of venous blood samples were collected from all the subjects and used for biochemical and genetic analysis. DNA was extracted from 2 mL of the EDTA samples, and precise primers were designed for LDL-R gene which includes Exon 3, 4 and 8. PCR was followed by DNA sequencing. In our study, we found 25 mutations in cases in Exon-3 and 2 mutations in controls, however, we have found only 5 mutations in exon 4 and none of the mutations were identified in exon 8. We conclude that screening of FH among Saudi population is very important to identify individuals who are prone to develop the disease.
    Źródło:
    Acta Biochimica Polonica; 2015, 62, 3; 559-562
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient
    Autorzy:
    Al-Allaf, Faisal
    Alashwal, Abdullah
    Abduljaleel, Zainularifeen
    Taher, Mohiuddin
    Bouazzaoui, Abdellatif
    Abalkhail, Hala
    Al-Allaf, Ahmad
    Athar, Mohammad
    Powiązania:
    https://bibliotekanauki.pl/articles/1038687.pdf
    Data publikacji:
    2017
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    familial hypercholesterolemia (FH)
    low-density lipoprotein receptor (LDLR)
    compound heterozygous
    missense variant
    frameshift variant
    sequencing
    Arab
    coronary artery disease (CAD)
    cholesterol
    genetics
    Opis:
    Familial hypercholesterolemia (FH) is most commonly caused by mutations in the LDL receptor (LDLR), which is responsible for hepatic clearance of LDL from the blood circulation. We described a severely affected FH proband and their first-degree blood relatives; the proband was resistant to statin therapy and was managed on an LDL apheresis program. In order to find the causative genetic variant in this family, direct exon sequencing of the LDLR, APOB and PCSK9 genes was performed. We identified a compound heterozygous mutation in the proband with missense p.(W577C) and frameshift p.(G676Afs33) variants at exons 12 and 14 of the LDLR gene respectively. DNA sequencing of LDLR gene from the parents demonstrated that the missense variant was inherited from the mother and frameshift variant was inherited from the father. The frameshift variant resulted in a stop signal 33 codons downstream of the deletion, which most likely led to a truncated protein that lacks important functional domains, including the trans-membrane domain and the cytoplasmic tail domain. The missense variant is also predicted to be likely pathogenic and affect EGF-precursor homology domain of the LDLR protein. The segregation pattern of the variants was consistent with the lipid profile, suggesting a more severe FH phenotype when the variants are in the compound heterozygous state. The finding of a compound heterozygous mutation causing severe FH phenotype is important for the genotype-phenotype correlation and also enlarges the spectrum of FH-causative LDLR variants in the Arab population, including the Saudi population.
    Źródło:
    Acta Biochimica Polonica; 2017, 64, 1; 75-79
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
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