Husby Steffen, Herskind Anne Maria, Jensenius Jens Christian, Holmskov Uffe
Department of Paediatrics, Odense University Hospital, University of Southern Denmark, Odense, Denmark.
Immunology. 2002 Jul;106(3):389-94. doi: 10.1046/j.1365-2567.2002.01436.x.
The collectins mannan-binding lectin (MBL) and lung surfactant protein D (SP-D) play a significant role in innate immunity. Structural as wells as promoter variants are known for MBL and different alleles correlate with low MBL concentrations in serum and predispose to infectious diseases. Structural variants are also known for SP-D but these have not been linked to disease states. The aim of the present study was to provide heritability estimates for the constitutional levels of MBL and SP-D in children. A population of 26 monozygotic (MZ) and 36 dizygotic (DZ) like-sexed twin pairs aged 6-9 years was studied. Intraclass correlations were significantly higher in MZ than in DZ twins, indicating substantial genetic influence on both MBL and SP-D levels. Biometric model fitting showed that the estimated heritability was 0.96 (95% CI 0.92-0.97) for MBL with the presence of non-additive genetic factors and non-shared environmental factors and 0.91 (95% CI 0.83-0.95) for SP-D with additive genetic and non-shared environmental factors. The data indicate quantitatively very strong genetic dependence for the serum levels of both MBL and SP-D.
凝集素甘露糖结合凝集素(MBL)和肺表面活性蛋白D(SP-D)在固有免疫中发挥着重要作用。MBL存在结构以及启动子变异,不同的等位基因与血清中低MBL浓度相关,并易患传染病。SP-D也存在结构变异,但这些变异尚未与疾病状态相关联。本研究的目的是提供儿童MBL和SP-D构成水平的遗传度估计值。对26对6至9岁的同性别单卵(MZ)双胞胎和36对同性别双卵(DZ)双胞胎进行了研究。MZ双胞胎的组内相关性显著高于DZ双胞胎,表明遗传因素对MBL和SP-D水平都有很大影响。生物统计学模型拟合显示,MBL的估计遗传度为0.96(95%CI 0.92-0.97),存在非加性遗传因素和非共享环境因素;SP-D的估计遗传度为0.91(95%CI 0.83-0.95),存在加性遗传和非共享环境因素。数据表明,MBL和SP-D的血清水平在数量上存在很强的遗传依赖性。