Ahmed Salah

Citation:

Elkoumi, M. A., A. A. Emam, M. A. N. Allah, A. H. Sherif, N. M. Abdelaal, A. Mosabah, M. T. Zakaria, M. M. Soliman, A. Salah, Y. M. Sedky, et al., "Association of ficolin-2 gene polymorphisms and susceptibility to systemic lupus erythematosus in Egyptian children and adolescents: a multicenter study.", Lupus, vol. 28, issue 8, pp. 995-1002, 2019.

Abstract:

BACKGROUND: Pediatric-onset SLE (pSLE) is a multisystem autoimmune disease. Recently, the ficolin-2 (FCN2) gene has emerged as a potential candidate gene for susceptibility to SLE.

OBJECTIVES: The objective of this study was to evaluate the association of the FCN2 gene polymorphisms at positions -986 (G/A), -602 (G/A), -4 (A/G) and SNP C/T (rs3124954) located in intron 1, with susceptibility to pSLE in Egyptian children and adolescents.

METHODS: This was a multicenter study of 280 patients diagnosed with pSLE, and 280 well-matched healthy controls. The FCN2 promoter polymorphisms at -986 G/A (rs3124952), -602 G/A (rs3124953), -4 A/G (rs17514136) and SNP C/T (rs3124954) located in intron 1 were genotyped by polymerase chain reaction, while serum ficolin-2 levels were assessed using enzyme-linked immunosorbent assay.

RESULTS: The frequencies of the FCN2 genotype and allele at -986 and -602 positions were significantly more represented in patients with pSLE than in controls ( < 0.001). Conversely, the FCN2 genotype and allele at position -4 were more common in patients than in controls ( < 0.001). Moreover, patients carrying the FCN2 genotype in -986 position were more likely to develop lupus nephritis (odds ratio: 2.6 (95% confidence interval: 1.4-4.78);  = 0.006). The FCN2 genotype at position -4 was also identified as a possible risk factor for lupus nephritis (odds ratio: 3.12 (95% confidence interval: 1.25-7.84);  = 0.024).

CONCLUSION: The FCN2 promoter polymorphisms may contribute to susceptibility to pSLE in Egyptian children and adolescents. Moreover, the FCN2 genotype at position -986 and genotype at position -4 were associated with low serum ficolin-2 levels and may constitute risk factors for lupus nephritis in pSLE.