Ouf Eman Abou, Ojurongbe Olusola, Akindele Akeem A, Sina-Agbaje Olawumi R, Van Tong Hoang, Adeyeba Adegboyega O, Kremsner Peter G, Kun Jürgen F J, Velavan Tp
Institute of Tropical Medicine, University of Tübingen, Germany.
J Infect Dis. 2012 Aug 15;206(4):562-70. doi: 10.1093/infdis/jis396. Epub 2012 Jun 12.
Human ficolin-2 (L-ficolins) encoded by the FCN2 gene are pattern-recognition proteins involved in innate immunity and are associated with several infectious diseases.
A Nigerian cohort of 168 Schistosoma haematobium-infected individuals and 192 healthy controls were examined for functional single-nucleotide polymorphisms in the promoter region (-986G>A, -602G>A, -4A>G) and in exon 8 (+6424G>T) using real-time polymerase chain reaction.
The FCN2 -986A and -4G alleles were significantly associated with the occurrence of schistosomiasis (P = .0004 for -986G>A; P = .0001 for -4A>G). The heterozygous genotypes (P = .0006 for -986G>A; P = .0002 for -4A>G) were observed to be a risk factor for susceptibility to schistosomiasis, whereas the homozygous genotypes of major alleles (P = .0002 for -986G>A; P = .0001 for -4A>G) were observed to shield against schistosomiasis. The haplotype AGGG (P = .0002) was observed to be a risk factor for susceptibility to schistosomiasis compared with controls, and the haplotype GGAG (P = .04) was observed to confer protection compared with patients. Ficolin-2 serum level was significantly higher in controls (P < .005) and in controls with GGAG haplotypes (P < .0001).
Our findings demonstrate that FCN2 promoter variants (-986G>A and -4A>G) influence ficolin-2 serum levels and susceptibility to schistosomiasis.
由FCN2基因编码的人纤维胶凝蛋白-2（L-纤维胶凝蛋白）是参与先天免疫的模式识别蛋白，与多种传染病相关。
使用实时聚合酶链反应，对168名感染埃及血吸虫的尼日利亚人群和192名健康对照进行启动子区域（-986G>A、-602G>A、-4A>G）和外显子8（+6424G>T）功能单核苷酸多态性检测。
FCN2基因-986A和-4G等位基因与血吸虫病的发生显著相关（-986G>A，P = 0.0004；-4A>G，P = 0.0001）。杂合基因型（-986G>A，P = 0.0006；-4A>G，P = 0.0002）被观察到是血吸虫病易感性的危险因素，而主要等位基因的纯合基因型（-986G>A，P = 0.0002；-4A>G，P = 0.0001）被观察到可预防血吸虫病。与对照组相比，单倍型AGGG（P = 0.0002）被观察到是血吸虫病易感性的危险因素；与患者相比，单倍型GGAG（P = 0.04）被观察到具有保护作用。对照组（P < 0.005）和具有GGAG单倍型的对照组（P < 0.0001）中纤维胶凝蛋白-2血清水平显著更高。
我们的研究结果表明，FCN2启动子变体（-986G>A和-4A>G）影响纤维胶凝蛋白-2血清水平和血吸虫病易感性。
