Ruskamp J M, Hoekstra M O, Postma D S, Kerkhof M, Bottema R W, Koppelman G H, Rovers M M, Wijga A H, de Jongste J C, Brunekreef B, Sanders E A M
Department of Paediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.
Clin Exp Immunol. 2009 Mar;155(3):433-40. doi: 10.1111/j.1365-2249.2008.03844.x.
Ficolins are pattern-recognition molecules that appear to be relevant for innate immune defence against infections. The ficolin genes in Caucasians are polymorphic and genetic variations may have functional consequences, both in relation to function and concentration. Low levels of Ficolin-2 have been suggested to associate with recurrent respiratory tract infections (RTI), whereas data on Ficolin-3 are still very limited. We investigated the association between variation in genes encoding Ficolin-2 (FCN2) and Ficolin-3 (FCN3) and frequency of RTI during the first 4 years of life. The study population consisted of 900 children from a large, population-based birth cohort of Dutch children, followed prospectively from birth to 4 years of age. The number of RTI was assessed by annual parental questionnaires. Nine single nucleotide polymorphisms in FCN2 and two in FCN3, all based on functionality or haplotype-tagging characteristics, were determined and haplotypes constructed. We found that single nucleotide polymorphisms in FCN2 and FCN3 were not associated with increased risk of RTI during the first 4 years of life. No difference existed between haplotype-frequencies of FCN2 and FCN3 in children grouped according to the reported number of RTI. In conclusion, at a population level, genetic variation in ficolin genes FCN2 and FCN3 do not seem to contribute to the risk of RTI in Caucasian children.
纤维胶凝蛋白是一类模式识别分子，似乎与针对感染的固有免疫防御相关。高加索人群中的纤维胶凝蛋白基因具有多态性，基因变异可能在功能和浓度方面都产生功能性后果。已有研究表明，纤维胶凝蛋白-2水平较低与反复呼吸道感染（RTI）有关，而关于纤维胶凝蛋白-3的数据仍然非常有限。我们调查了编码纤维胶凝蛋白-2（FCN2）和纤维胶凝蛋白-3（FCN3）的基因变异与儿童出生后前4年RTI发生频率之间的关联。研究人群包括来自荷兰一个大型基于人群的出生队列的900名儿童，从出生到4岁进行前瞻性随访。通过每年家长问卷评估RTI的发生次数。确定了FCN2中的9个单核苷酸多态性和FCN3中的2个单核苷酸多态性，所有这些多态性均基于功能或单倍型标签特征，并构建了单倍型。我们发现，FCN2和FCN3中的单核苷酸多态性与儿童出生后前4年RTI风险增加无关。根据报告的RTI次数分组的儿童中，FCN2和FCN3的单倍型频率没有差异。总之，在人群水平上，纤维胶凝蛋白基因FCN2和FCN3的遗传变异似乎不会增加高加索儿童患RTI的风险。
