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为了证明儿童对细菌性脑膜炎的易感性,需要检测多少个单核苷酸多态性 (SNP)?对参与免疫反应的七个基因中的 11 个 SNP 及其对儿童细菌性脑膜炎易感性的影响进行分析。

How many single-nucleotide polymorphisms (SNPs) must be tested in order to prove susceptibility to bacterial meningitis in children? Analysis of 11 SNPs in seven genes involved in the immune response and their effect on the susceptibility to bacterial meningitis in children.

机构信息

1 Department of Family Medicine, Poznan University of Medical Sciences, Poland.

2 Institute of Human Genetics, Polish Academy of Sciences, Poznan Poland.

出版信息

Innate Immun. 2018 Apr;24(3):163-170. doi: 10.1177/1753425918762038. Epub 2018 Mar 13.

Abstract

The aim of this study is to describe the prevalence of single single-nucleotide polymorphisms (SNPs) as well as their combinations in genes encoding proteins involved in the immune response in children with bacterial meningitis. The prospective study group consisted of 39 children with bacterial meningitis and 49 family members surveyed between 2012 and 2016. Eleven SNPs in seven genes involved in immune response were analysed. The mean number of minor frequency alleles (MAF) of studied SNPs was lowest in the control group and highest in patients with pneumococcal meningitis. We found that carrying ≥6 MAF of studied SNPs was associated with an increased risk of pneumococcal meningitis. The prevalence of risky variants was noted to be higher in patients with pneumococcal meningitis as compared to the control group. In conclusion, genetic factors are a relevant factor in determining the susceptibility to bacterial meningitis. A statistically significant cumulative effect of mutated variants on increasing the risk of bacterial meningitis was detected. Combining all three SNPs in MBL2 improves the prediction of susceptibility to pneumococcal meningitis. Analysis of risky alleles can help indicate people prone to the disease who are 'gene-immunocompromised'.

摘要

本研究旨在描述参与免疫反应的蛋白编码基因中单核苷酸多态性(SNP)及其组合在细菌性脑膜炎患儿中的流行情况。前瞻性研究组包括 2012 年至 2016 年间调查的 39 例细菌性脑膜炎患儿和 49 名家庭成员。分析了参与免疫反应的 7 个基因中的 11 个 SNP。研究 SNP 的次要等位基因频率(MAF)的平均值在对照组中最低,在肺炎球菌性脑膜炎患者中最高。我们发现携带≥6 MAF 的研究 SNP 与患肺炎球菌性脑膜炎的风险增加相关。与对照组相比,肺炎球菌性脑膜炎患者的风险变异体的流行率更高。总之,遗传因素是决定细菌性脑膜炎易感性的一个相关因素。检测到突变变异对增加细菌性脑膜炎风险具有统计学意义的累积效应。在 MBL2 中组合所有三个 SNP 可提高对肺炎球菌性脑膜炎易感性的预测。分析风险等位基因有助于指示易患疾病的“基因免疫缺陷”人群。

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Effect of vaccines on bacterial meningitis worldwide.疫苗对全球细菌性脑膜炎的影响。
Lancet. 2012 Nov 10;380(9854):1703-11. doi: 10.1016/S0140-6736(12)61187-8.

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