Ruskamp Jopje M, Hoekstra Maarten O, Postma Dirkje S, Kerkhof Marjan, Bottema Renske W, Koppelman Gerard H, Rovers Maroeska M, Wijga Alet H, de Jongste Johan C, Brunekreef Bert, Sanders Elisabeth A
Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, University of Utrecht, Lundlaan 6, Utrecht, The Netherlands.
J Infect Dis. 2008 Dec 1;198(11):1707-13. doi: 10.1086/592989.
Low mannan-binding lectin (MBL) levels, caused by MBL2 polymorphisms, are suggested to contribute to susceptibility to respiratory tract infections (RTIs), particularly early in life. Large-scale replication of previous associations is needed, however. We investigated the association between MBL2 polymorphisms and the frequency of RTI in a large population-based birth cohort of white children.
The frequency of RTI was prospectively assessed by annual parental questionnaires until children were 4 years of age. Thirteen polymorphisms in MBL2 were determined in 987 Dutch children. Haplotypes, previously shown to be associated with functional levels of MBL, were constructed, and their associations with the frequency of RTI during year 1, year 2, and the first 4 years of life were assessed. High-producing, intermediate-producing, and deficient MBL2 genotypes were defined on the basis of exon 1 and Y/X promoter polymorphisms.
No differences were found between investigated polymorphisms and haplotype frequencies in the population as a whole or between the groups with frequent, moderately frequent, or no RTIs reported. Deficient MBL2 genotypes were not associated with an increased risk of RTI (odds ratio, 0.71 [95% confidence interval, 0.25 to 2.05]) during years 1-4 of life. This was also true when year 1 and year 2 were studied separately.
These results suggest that, at the population level, MBL2 polymorphisms do not contribute to the risk of questionnaire-reported RTI in white children.
由甘露聚糖结合凝集素2（MBL2）基因多态性导致的低甘露聚糖结合凝集素（MBL）水平被认为与呼吸道感染（RTIs）易感性有关，尤其是在生命早期。然而，需要对先前的关联进行大规模重复研究。我们在一个以白种儿童为基础的大型出生队列中调查了MBL2基因多态性与RTIs发生频率之间的关联。
通过每年向家长发放问卷对RTIs发生频率进行前瞻性评估，直至儿童4岁。对987名荷兰儿童的MBL2基因中的13种多态性进行了检测。构建了先前已证明与MBL功能水平相关的单倍型，并评估了它们与1岁、2岁以及生命最初4年中RTIs发生频率的关联。根据外显子1和Y/X启动子多态性定义了高产生型、中间产生型和缺陷型MBL2基因型。
在整个研究人群中，以及在报告有频繁、中度频繁或无RTIs的组之间，所研究的多态性和单倍型频率均未发现差异。在1至4岁期间，缺陷型MBL2基因型与RTIs风险增加无关（优势比，0.71 [95%置信区间，0.25至2.05]）。单独研究1岁和2岁时情况也是如此。
这些结果表明，在人群水平上，MBL2基因多态性对白种儿童问卷报告的RTIs风险没有影响。
