Evaluation of CCR5Δ32 Polymorphism in Patients with Systemic Lupus Erythematosus and Healthy Individuals

Abstract

Background and Objectives: CC chemokine receptor type 5 (CCR5) is a chemokine receptor expressed at high levels on the surface of T-cells. A 32-bp deletion in the coding region of the CCR5 (CCR5Δ32) leads to production of an incomplete protein that is not expressed on the cell surface. CCR5Δ32 may be involved in development of autoimmune disease, such as systemic lupus erythematosus. We investigated frequency of the CCR5Δ32 polymorphism in SLE patients and healthy controls, and evaluated the relationship between the CCR5Δ32 polymorphism and susceptibility to SLE in Golestan Province, Iran. Methods: Whole blood samples were taken from 80 SLE patients admitted to Shahid Sayyad Shirazi hospital and 80 healthy controls (from a blood bank) in the Golestan Province, in 2016. Baseline clinical and laboratorial characteristics were evaluated regarding the CCR5Δ32 genotypes. The CCR5Δ32 polymorphism was determined from genomic DNA by polymerase chain reaction. Result: Genotype frequencies of both groups were in the Hardy-Weinberg equilibrium. The frequencies of the CCR5 and the CCR5Δ32 alleles were 98.13% and 1.88% among the patients, and 98.75% and 1.25% among the controls, respectively. Homozygote CCR5Δ32 was not observed in the subjects. The frequency of heterozygous Δ32 was 3.8% and 2.5% among the SLE patients and controls, respectively (P-value>0.05). There was no significant association between the CCR5 status and clinical signs of SLE (P>0.05). Conclusion: Our data suggest that the CCR5Δ32 polymorphism has no correlation with SLE in our study population. In addition, the frequency of the Δ32 polymorphism in SLE patients and controls does not follow the Hardy-Weinberg equilibrium

Variability of the rs333 in Polish patients with lupus erythematosus

“…This would suggest the role of biogeographic background in the association of the rs333 variability and the susceptibility to SLE. On the other hand, the lack of association was also reported in patients from Poland [ 43 ], Iran [ 44 ] the Netherlands [ 45 ] and Spain [ 46 ]; the observation being consistent with that made in this study. Conversely, the association was revealed in a mixed cohort of patients from Ohio, Colombia and San Antonio (Texas) [ 26 ] as well as in a female sample from Brazil [ 25 ].…”

“…Meanwhile, in the study of Heydarifard et al . [ 44 ] no significant association between the rs333 status and clinical features of SLE was revealed. In this study, no statistically significant associations between the symptoms (or lack thereof) in patients with SLE and/or DLE were found with any allele or genotype.…”

CCR5Δ32 in Brazil: Impacts of a European Genetic Variant on a Highly Admixed Population

“…The frequency of the CCR5D32 variant did not vary significantly between groups The frequency of the CCR5D32 variant was significantly higher in healthy euro-Brazilian controls (0.075) than in euro-Brazilian SLE patients (0.027) (p=0.002); Patients carrying the CCR5D32 variant were predisposed to the development of class IV nephritis (p=7E-6) Schauren et al (185) (Continued) erythematosus and severity in clinical outcomes (96). Studies performed in different populations have found no association between the variant and the development of systemic lupus erythematosus (205)(206)(207)(208). Such divergence involving the results mentioned above deserves attention and, therefore, more studies in other populations are required.…”