genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis遗传的证据功能ficolin-2单体型是皮肤利什曼病的易感性因素.pdfVIP

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genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis遗传的证据功能ficolin-2单体型是皮肤利什曼病的易感性因素.pdf

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genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis遗传的证据功能ficolin-2单体型是皮肤利什曼病的易感性因素

Genetic Evidence of Functional Ficolin-2 Haplotype as Susceptibility Factor in Cutaneous Leishmaniasis 1,2 1 1 3 1 ¨ 1 Amal Assaf , Tong Van Hoang , Imad Faik , Toni Aebischer , Peter G. Kremsner , Jurgen F. J. Kun , T. P. Velavan1* ¨ ¨ 1 Institute of Tropical Medicine, University of Tubingen, Wilhelmstr. 27, Tubingen, Germany, 2 Department of Laboratory Medicine, Faculty of Medicine, University of Damascus, Damascus, Syria, 3 Robert Koch Institute; Nordufer 20, 13353 Berlin, Germany Abstract Background: Ficolin-2 coded by FCN2 gene is a soluble serum protein that plays an important role in innate immunity. In this study, we analyzed five functional polymorphisms of the FCN2 gene for their possible association with cutaneous leishmaniasis. Methods: Initially we screened 40 Syrian Arabs for the entire FCN2 gene. We investigated the contribution of FCN2 functional variants in 226 patients with cutaneous leishmaniasis and 286 healthy controls from Syria. Polymorphisms in the promoter regions (2986G/A, 2602G/A, 24A/G) of the FCN2 gene were assessed by TaqMan real time PCR, whereas polymorphisms in exon8 (+6359C/T and +6424G/T) were assessed by DNA sequencing. We also measured serum ficolin-2 levels in 70 control Syrian Arabs and correlated the serum concentrations to FCN2 genotypes and haplotypes respectively. Results: Nine new FCN2 variants including two with non synonymous substitutions in exon6 and exon8 were observed. The homozygous genotypes +6424T/T were distributed more in controls and none in patients (P = 0.04). The AGACG haplotype were observed more in patients than in controls (OR = 2