Scottish National Blood Transfusion Service, National Science Laboratory, Edinburgh, Scotland, UK.
Hum Immunol. 2013 Jul;74(7):867-71. doi: 10.1016/j.humimm.2013.04.011. Epub 2013 Apr 22.
The human FCN2 gene codes for ficolin-2 (L-ficolin), a major pattern recognition molecule and activator of the lectin pathway of complement. Seven single nucleotide polymorphisms of this gene were investigated in a large series of cord blood DNA samples. Mutations from the majority to the minority alleles at -602, -4 and +6359 were associated with an increase, while mutations at -986, -557, -64 and +6424 were associated with a decrease, in protein concentration. Full (7 loci) genotypes were obtained for 1229 unrelated neonates, 12 sets of twin siblings and one set of triplets. Forty-four separate genotypes were detected. Four genotypes accounted for more than half the unrelated neonates, and >90% had one of the 12 commonest genotypes. Genotypes were associated with significant differences in mean serum ficolin-2, but the intra-genotype concentration ranges were large and greater than the inter-genotype differences. Consequently, there were no associations between genotypes and low birthweight babies or perinatal infections, and only a weak relationship with preterm deliveries, despite all three adverse pregnancy features being significantly associated with serum ficolin-2 protein. FCN2 genotyping may be of value in clinical studies, but not as a substitute for total serum ficolin-2 protein measurement.
人类 FCN2 基因编码 ficolin-2（L-ficolin），这是一种主要的模式识别分子和补体凝集素途径的激活剂。在一系列大量的脐带血 DNA 样本中，研究了该基因的七个单核苷酸多态性。-602、-4 和 +6359 处从多数到少数等位基因的突变与蛋白浓度增加相关，而-986、-557、-64 和 +6424 处的突变则与蛋白浓度降低相关。1229 名无关新生儿、12 对双胞胎和 1 对三胞胎获得了完整的（7 个位点）基因型。共检测到 44 种不同的基因型。4 种基因型占无关新生儿的一半以上，超过 90%的新生儿具有 12 种最常见的基因型之一。基因型与血清 ficolin-2 的平均水平存在显著差异，但同型内的浓度范围较大，大于同型间的差异。因此，基因型与低出生体重婴儿或围产期感染之间没有关联，与早产也只有微弱的关联，尽管所有三种不良妊娠特征与血清 ficolin-2 蛋白均显著相关。FCN2 基因分型可能对临床研究有价值，但不能替代总血清 ficolin-2 蛋白测量。
