Genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis.

<h4>Background</h4>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.<h4>Methods</h4>In...

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Autores principales:	Amal Assaf, Tong Van Hoang, Imad Faik, Toni Aebischer, Peter G Kremsner, Jürgen F J Kun, T P Velavan
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/5bafc338885d4c9986346098d28adf15
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spelling	oai:doaj.org-article:5bafc338885d4c9986346098d28adf152021-11-18T07:24:23ZGenetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis.1932-620310.1371/journal.pone.0034113https://doaj.org/article/5bafc338885d4c9986346098d28adf152012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22457818/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>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.<h4>Methods</h4>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 (-986G/A, -602G/A, -4A/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.<h4>Results</h4>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 = 2.0, 95%CI 1.2-3.4, P = 0.006). The serum ficolin-2 levels were significantly distributed among the reconstructed ficolin-2 haplotypes (P<0.008) and the haplotype AGACG was observed with higher ficolin-2 levels in 70 control individuals.<h4>Conclusion</h4>Our results demonstrate a significant association of FCN2 AGACG haplotype with cutaneous leishmaniasis in a Syrian Arab population. These first results provide a basis for a future study that could confirm or disprove possible relationships between FCN2 gene polymorphisms with cutaneous leishmaniasis.Amal AssafTong Van HoangImad FaikToni AebischerPeter G KremsnerJürgen F J KunT P VelavanPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 3, p e34113 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Amal Assaf Tong Van Hoang Imad Faik Toni Aebischer Peter G Kremsner Jürgen F J Kun T P Velavan Genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis.
description	<h4>Background</h4>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.<h4>Methods</h4>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 (-986G/A, -602G/A, -4A/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.<h4>Results</h4>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 = 2.0, 95%CI 1.2-3.4, P = 0.006). The serum ficolin-2 levels were significantly distributed among the reconstructed ficolin-2 haplotypes (P<0.008) and the haplotype AGACG was observed with higher ficolin-2 levels in 70 control individuals.<h4>Conclusion</h4>Our results demonstrate a significant association of FCN2 AGACG haplotype with cutaneous leishmaniasis in a Syrian Arab population. These first results provide a basis for a future study that could confirm or disprove possible relationships between FCN2 gene polymorphisms with cutaneous leishmaniasis.
format	article
author	Amal Assaf Tong Van Hoang Imad Faik Toni Aebischer Peter G Kremsner Jürgen F J Kun T P Velavan
author_facet	Amal Assaf Tong Van Hoang Imad Faik Toni Aebischer Peter G Kremsner Jürgen F J Kun T P Velavan
author_sort	Amal Assaf
title	Genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis.
title_short	Genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis.
title_full	Genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis.
title_fullStr	Genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis.
title_full_unstemmed	Genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis.
title_sort	genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/5bafc338885d4c9986346098d28adf15
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Genetic evidence of functional ficolin-2 haplotype as susceptibility factor in cutaneous leishmaniasis.

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