甘露聚糖结合凝集素2（MBL2）基因多态性增加早产儿发生不良神经结局的风险：一项初步前瞻性研究。
MBL2 gene polymorphisms increase the risk of adverse neurological outcome in preterm infants: a preliminary prospective study.
作者信息
Auriti Cinzia, Prencipe Giusi, Caravale Barbara, Coletti Maria Franca, Ronchetti Maria Paola, Piersigilli Fiammetta, Azzari Chiara, Di Ciommo Vincenzo M
机构信息
Department of Neonatology, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
Rheumatologic Research Laboratory, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
出版信息
Pediatr Res. 2014 Nov;76(5):464-9. doi: 10.1038/pr.2014.118. Epub 2014 Aug 13.
BACKGROUND
As described in animal models, the lectin-complement pathway is central to the propagation of ischemia-reperfusion injuries in many tissues, including the brain. Similarly, it might affect the genesis of brain damage in preterm infants. MBL2 gene single-nucleotide polymorphisms (SNPs), regulating mannose-binding lectin (MBL) serum levels, could predict the risk of adverse neurological outcome in these infants.
METHODS
To evaluate the association between SNPs of the MBL2 gene and long-term neurological outcomes in preterm infants, 75 infants (gestational age (GA) ≤ 32 wk) were observed in a prospective longitudinal study and assessed by clinical and instrumental exams at 12 and 24 mo of corrected age (CA). They were genotyped for the promoter polymorphism -221 and for the exon-1 variant alleles (at codons 52, 54, and 57) of the MBL2 gene.
RESULTS
The MBL2 exon-1 OO genotype was more frequent in children with an adverse neurological outcome (5/35; 7%) than in controls (0/40; 0%), P = 0.045. The risk of intraventricular hemorrhage in carriers of the genotype OO was marked, without reaching statistical significance (odds ratio: 8.67; 95% confidence interval: 0.87-86.06; P = 0.07).
CONCLUSION
Preterm infants who are carriers of MBL2 exon-1 OO genotype are exposed to an increased risk of adverse neurological outcomes.
背景
如动物模型中所描述，凝集素-补体途径在包括脑在内的许多组织的缺血再灌注损伤传播中起核心作用。同样，它可能影响早产儿脑损伤的发生。调节甘露糖结合凝集素（MBL）血清水平的MBL2基因单核苷酸多态性（SNP）可预测这些婴儿出现不良神经学结局的风险。
方法
为评估MBL2基因SNP与早产儿长期神经学结局之间的关联，在一项前瞻性纵向研究中观察了75例婴儿（胎龄（GA）≤32周），并在矫正年龄（CA）12个月和24个月时通过临床和器械检查进行评估。对他们进行MBL2基因启动子多态性-221以及外显子1变异等位基因（密码子52、54和57处）的基因分型。
结果
MBL2外显子1 OO基因型在神经学结局不良的儿童中（5/35；7%）比在对照组（0/40；0%）更常见，P = 0.045。OO基因型携带者发生脑室内出血的风险显著，但未达到统计学意义（比值比：8.67；95%置信区间：0.87 - 86.06；P = 0.07）。
结论
MBL2外显子1 OO基因型携带者的早产儿出现不良神经学结局的风险增加。
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