Lack of correlation between Apo-1/Fas promoter polymorphism and susceptibility to systemic lupus erythematosus

Azizah Mohd Radzi, Kuak Sai Hun, Norella Kong, Normaznah Yahaya

    Research output: Contribution to journalArticle

    Abstract

    Background: Systemic lupus erythematosus (SLE) is a complex autoimmune disease exhibiting extensive clinical heterogeneity. Genetic factors and immune dysregulation play important roles in its development. Apoptosis is a physiologic process that regulates normal homeostasis. It is likely to contribute to the pathogenesis of autoimmune diseases by impairing elimination of autoreactive T and B cells. Apo-1/Fas which is a transmembrane protein mediates apoptosis and is a member of the tumour necrosis factor/nerve growth factor receptor family. It transduces the apoptotic signal into susceptible target cells. Recent studies have focused on the apoptosis mediated by these proteins in the causation of several autoimmune disorders including SLE. Aim: To determine the frequency of Apo-1/Fas promoter gene polymorphism in patients with systemic lupus erythematosus and healthy controls and to investigate its role in the susceptibility of SLE in a cohort of Malaysian Chinese SLE patients Materials and methods: 107 Chinese patients and 60 matched controls were genotyped using polymerase chain reaction (PCR) amplification followed by MvaI restriction enzyme digestion. The MvaI RFLP is located at the -670 position from the transcription starting site and results from an A→G substitution which alters the MvaI restriction site. Results: G/G genotype was found in 25% of patients and controls while the A/A genotype in 23% and 31.6% of patients and controls respectively. Heterozygous form was noted in 43% of the normal population compared to 51% in SLE patients. There was also no significant difference in the allele frequencies of G and A in both groups studied. Conclusion: We suggest that polymorphism of the Apo-1/Fas promoter gene does not play a role in disease susceptibility in Chinese patients with SLE.

    Original languageEnglish
    Pages (from-to)257-259
    Number of pages3
    JournalInternational Medical Journal
    Volume15
    Issue number4
    Publication statusPublished - Sep 2008

    Fingerprint

    Systemic Lupus Erythematosus
    Apoptosis
    Autoimmune Diseases
    Genotype
    Disease Eradication
    Nerve Growth Factor Receptor
    Disease Susceptibility
    Immunologic Factors
    Gene Frequency
    Restriction Fragment Length Polymorphisms
    Causality
    Genes
    Digestion
    Proteins
    Homeostasis
    B-Lymphocytes
    Tumor Necrosis Factor-alpha
    T-Lymphocytes
    Polymerase Chain Reaction
    Enzymes

    Keywords

    • Apo1/Fas
    • Autoimmune
    • Genes
    • Lupus
    • Susceptibility

    ASJC Scopus subject areas

    • Medicine(all)

    Cite this

    Lack of correlation between Apo-1/Fas promoter polymorphism and susceptibility to systemic lupus erythematosus. / Radzi, Azizah Mohd; Hun, Kuak Sai; Kong, Norella; Yahaya, Normaznah.

    In: International Medical Journal, Vol. 15, No. 4, 09.2008, p. 257-259.

    Research output: Contribution to journalArticle

    Radzi, Azizah Mohd ; Hun, Kuak Sai ; Kong, Norella ; Yahaya, Normaznah. / Lack of correlation between Apo-1/Fas promoter polymorphism and susceptibility to systemic lupus erythematosus. In: International Medical Journal. 2008 ; Vol. 15, No. 4. pp. 257-259.
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