Genetic polymorphisms and serum levels of mannose-binding lectin in Chinese pediatric patients with common infectious diseases
Genetic polymorphisms and serum levels of mannose-binding lectin in Chinese pediatric patients with common infectious diseases
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中国儿童常见传染病患者甘露糖结合凝集素基因多态性及血清水平
DOI：
10.1016/j.ijid.2012.01.014
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发表时间：
2012-05-01
影响因子：
8.4
通讯作者：
Shang, Shi-Qiang
中科院分区：
文献类型：
--
作者：
Tao, Ran;Hua, Chun-Zhen;Shang, Shi-Qiang
背景：甘露糖结合凝集素（MBL）是一种胶原样血清蛋白，在一线宿主防御中起重要作用，特别是在婴幼儿中。本研究的目的是探讨中国儿科常见感染性疾病（包括复发性呼吸道感染（RRI）、急性呼吸道感染（ARI）、活动性巨细胞病毒（CMV）感染、局限性脓肿和中耳炎）患者MBL的遗传多态性和血清蛋白水平。方法：对151例小儿感染性疾病患者和105例健康对照的MBL基因多态性进行PCR和测序检测。使用Human MBL ELISA Kit检测所有患者和对照组的血清MBL水平。采用统计学方法分析患者与对照组MBL基因多态性及血清水平的差异。结果：启动子-550位等位基因H/L频率及3个单倍型HYPA、HYPB、LYPB在患者与对照组间的差异有统计学意义（p < 0.05）。与血清蛋白水平相关的“YA”和“XB”基因型频率在患者与对照组之间也有显著差异（p < 0.05）。活动性巨细胞病毒感染患者血清MBL水平显著低于对照组（p < 0.05）。相反，急性呼吸道感染和局部脓肿患者血清MBL水平显著高于对照组（p < 0.05）。结论：由MBL2基因启动子和外显子1突变引起的遗传多态性在患有感染性疾病的儿科患者中相对常见。低血清MBL水平可能在儿童巨细胞病毒感染的高敏感性中起作用。(C) 2012年国际传染病学会。Elsevier Ltd.出版。版权所有。
Background: Mannose-binding lectin (MBL) is a collagen-like serum protein that plays an important role in first-line host defense, especially in infants and young children. The objective of this study was to explore the genetic polymorphisms and serum protein levels of MBL in Chinese pediatric patients with common infectious diseases, including recurrent respiratory infection (RRI), acute respiratory infection (ARI), active cytomegalovirus (CMV) infection, localized abscess, and otitis media.Methods: MBL genetic polymorphisms of 151 pediatric patients with infectious diseases and 105 healthy controls were detected by PCR and sequencing. Serum MBL levels of all the patients and controls were measured using a Human MBL ELISA Kit. Differences in MBL genetic polymorphisms and serum levels between patients and controls were analyzed by statistical methods.Results: The frequencies of allele H/L at position -550 of the promoter and three haplotypes - HYPA, HYPB, and LYPB - were statistically different between patients and controls (p < 0.05). The frequencies of genotypes 'YA' and 'XB', relevant to serum protein levels, were also significantly different between patients and controls (p < 0.05). Serum MBL levels of patients with active CMV infection were significantly lower than those of controls (p < 0.05). Conversely, serum MBL levels of patients with ARI and localized abscess were significantly higher than those of controls (p < 0.05).Conclusions: Genetic polymorphisms attributable to mutations in the promoter and exon 1 of the MBL2 gene appear to be relatively common in pediatric patients with infectious diseases. Low serum MBL levels may play a role in the high sensitivity of pediatric CMV infections. (C) 2012 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.