Ibrahim Alshaymaa Ahmed, El-Lebedy Dalia, Ashmawy Ingy, Hady Maha Abdel
Clinical and Chemical Pathology Department, National Research Centre, El Buhouth St, Dokki, Cairo, 12311, Egypt.
Internal Medicine Department, National Research Centre, Cairo, Egypt.
Clin Rheumatol. 2017 Jun;36(6):1305-1310. doi: 10.1007/s10067-017-3567-z. Epub 2017 Feb 9.
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.
对氧磷酶-1（PON1）参与了系统性红斑狼疮（SLE）和抗磷脂综合征（APS）中导致组织损伤的氧化应激过程。本研究的目的是调查埃及样本中PON1 Q192R和L55M多态性与SLE及相关APS风险的关联。该研究纳入了120例SLE患者（45例无APS，75例有APS）和120名健康受试者。通过实时PCR对PON1 Q192R和L55M多态性进行基因分型。患者与对照组之间在Q192R基因型或等位基因频率上未发现显著差异（p值分别为0.5和0.1）。SLE患者中55M等位基因的频率显著高于对照组（66.6%对43.3%），而55L等位基因在对照组（56.6%）中比患者（33.3%）中更常见（p = 0.03）。LL基因型在对照组（21.6%）中比患者（10%）中更常见，而M等位基因携带者基因型（LM + MM）在患者（90%）中比对照组（78.3%）中更常见，p = 0.04。此外，55M等位基因在APS患者（73.3%）中比无APS的患者（55.6%）中更常见，p = 0.004。M等位基因携带者基因型（LM + MM）在APS患者（95.4%）中显著高于非APS患者（80%），p = 0.008。我们的结果表明，在埃及开罗人群中，PON1 L55M多态性与SLE及相关APS相关，而Q192R多态性在疾病易感性中不起作用。需要进行大规模研究以评估PON1多态性、PON1活性以及氧化应激相互作用标志物，以阐明PON-1多态性在SLE和相关APS发病机制中的作用。
