Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth
Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth
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DOI：
10.1097/01.gim.0000232478.43335.19
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发表时间：
2006-08-01
影响因子：
8.8
通讯作者：
Schmidt, Wolfgang M.
中科院分区：
文献类型：
--
作者：
Bodamer, Olaf A.;Mitterer, Georg;Schmidt, Wolfgang M.
目的：由MBL 2基因编码的人甘露糖结合凝集素是先天免疫的重要组分和炎症过程的重要调节剂。MBL 2基因多态性与新生儿感染风险增加相关，一些数据表明母体MBL 2基因型与早产风险之间存在关系。在这项研究中，我们评估是否有胎儿MBL 2基因型和早产之间的关联。研究方法：采用芯片PCR技术对204份档案血卡DNA样本进行MBL 2基因5种常见多态性（密码子52、54、57;启动子-550、-221）的同时检测。将妊娠第36周之前出生的婴儿（N = 102）的MBL 2基因型与妊娠第37周之后足月出生的婴儿（N = 102）的对照组进行比较。结果如下：早产儿组密码子52多态性频率显著高于足月儿组（10.8%对4.9%，P = 0.04），而两组密码子54多态性频率相同（11.3%对11.8%）。有趣的是，可能导致MBL血浆水平不足的基因型（0/0）携带者在早产组中更常见（9.8%对2.9%，P = 0.05），而启动子-550 C/C基因型在早产组中代表性不足（24.5%对39.2%，P = 0.03）。结论：我们的数据增加了关于早产遗传易感性的知识，并表明胎儿MBL 2基因型可能是导致早产风险的额外遗传因素。
Purpose: Human mannose-binding lectin, encoded by the MBL2 gene, is an important component of innate immunity and an important regulator of inflammatory processes. MBL2 gene polymorphisms are associated with an increased risk of neonatal infections and some data suggest a relation between the maternal MBL2 genotype and the risk of premature delivery. In this study, we evaluated whether there is an association between the fetal MBL2 genotype and prematurity. Methods: A microarray-based on-chip PCR method was used to simultaneously detect five common MBL2 polymorphisms (codon 52, 54, 57; promoter -550, -221) in 204 DNA samples isolated from archival blood cards. MBL2 genotypes of infants born before the 36(th) week of pregnancy (N = 102) were compared to a control group of infants born at term after the 37(th) week (N = 102). Results: The frequency of the codon 52 polymorphism was significantly higher in the pre-term group compared to the term group (10.8% versus 4.9%, P = 0.04), while the frequency of the codon 54 polymorphism was equal in both groups (11.3% versus 11.8%). Interestingly, carriers of genotypes (0/0) likely conferring deficient MBL plasma levels were more common in the group of premature birth (9.8% versus 2.9%, P = 0.05), while the promoter -550 C/C genotype was underrepresented in the pre-term birth group (24.5% versus 39.2%, P = 0.03). Conclusion: Our data add to the knowledge about genetic predisposition to prematurity and suggest that the fetal MBL2 genotype might be an additional genetic factor contributing to the risk of premature delivery.