title: 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.
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.
authors.affiliation: Clinical and Chemical Pathology Department, National Research Centre, El Buhouth St, Dokki, Cairo, 12311, Egypt. shaymaa_t@hotmail.com.
authors.forename: Alshaymaa Ahmed
authors.initials: AA
authors.lastname: Ibrahim
authors.affiliation: Clinical and Chemical Pathology Department, National Research Centre, El Buhouth St, Dokki, Cairo, 12311, Egypt.
authors.forename: Dalia
authors.initials: D
authors.lastname: El-Lebedy
authors.affiliation: Clinical and Chemical Pathology Department, National Research Centre, El Buhouth St, Dokki, Cairo, 12311, Egypt.
authors.forename: Ingy
authors.initials: I
authors.lastname: Ashmawy
authors.affiliation: Internal Medicine Department, National Research Centre, Cairo, Egypt.
authors.forename: Maha Abdel
authors.initials: MA
authors.lastname: Hady
mesh_terms: D000328:Adult; D016736:Antiphospholipid Syndrome / Q000235:genetics*; D043303:Aryldialkylphosphatase / Q000235:genetics*; D016022:Case-Control Studies; D004534:Egypt; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D020125:Mutation, Missense; D055815:Young Adult
chemical_list: D043303:Aryldialkylphosphatase; C468406:PON1 protein, human
keywords: Anti-phospholipid syndrome; Paraoxonase-1; Polymorphism; Systemic lupus erythematosus