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Association between paraoxonase-1 gene Q192R and L55M polymorphisms in systemic lupus erythematosus (SLE) and anti-phospholipid syndrome (APS) in a population from Cairo of Egypt

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Abstract

Paraoxonase-1 (PON1) is involved in the oxidative stress process that cause tissue damage observed in systemic lupus erythematosus (SLE) and anti-phospholipid syndrome (APS). The aim of the present study was to investigate the association of PON1 Q192R and L55M polymorphisms with risk of SLE and associated APS among Egyptian sample. The study included 120 SLE patients (45 without APS and 75 with APS) and 120 healthy subjects. PON1 Q192R and L55M polymorphisms were genotyped by real-time PCR. No significant differences in Q192R genotypes or allele frequencies were found between patients and controls (p = 0.5 and 0.1, respectively). The frequency of the 55M allele was significantly higher in SLE patients than in controls (66.6 vs. 43.3%), while the 55L allele was more frequent in controls (56.6%) than in patients (33.3%) (p = 0.03). The LL genotype was more frequent in controls (21.6%) than in patients (10%) while M allele carrier genotypes (LM + MM) were more frequent among patients (90%) than controls (78.3%), p = 0.04. Also, the 55M allele was more frequent in APS patients (73.3%) than in patients without APS (55.6%), p = 0.004. M allele carrier genotypes (LM + MM) was significantly higher among APS patients (95.4%) than in non-APS patients (80%), p = 0.008. Our results indicated that the PON1 L55M polymorphism associated with SLE and associated APS in a population from Cairo of Egypt, while the Q192R polymorphism plays no role in disease susceptibility. A large scale study to assess PON1 polymorphisms, PON1 activity, and markers of oxidative stress interaction is needed to clarify the role of PON-1 polymorphisms in the pathogenesis of SLE and associated APS.

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Authors and Affiliations

  1. Clinical and Chemical Pathology Department, National Research Centre, El Buhouth St, Dokki, Cairo, 12311, Egypt

    Alshaymaa Ahmed Ibrahim, Dalia El-Lebedy & Ingy Ashmawy

  2. Internal Medicine Department, National Research Centre, Cairo, Egypt

    Maha Abdel Hady

Authors
  1. Alshaymaa Ahmed Ibrahim
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  2. Dalia El-Lebedy
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  3. Ingy Ashmawy
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  4. Maha Abdel Hady
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Correspondence to Alshaymaa Ahmed Ibrahim.

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Written informed consent was obtained from all participants according to the Declaration of Helsinki and the study protocol was approved by ethics committee of the National Research Centre.

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Ibrahim, A.A., El-Lebedy, D., Ashmawy, I. et al. Association between paraoxonase-1 gene Q192R and L55M polymorphisms in systemic lupus erythematosus (SLE) and anti-phospholipid syndrome (APS) in a population from Cairo of Egypt. Clin Rheumatol 36, 1305–1310 (2017). https://doi.org/10.1007/s10067-017-3567-z

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