Beijing Children's Hospital, Nanlishi Road No. 56, Xicheng District, Beijing, China.
World J Pediatr. 2020 Dec;16(6):598-606. doi: 10.1007/s12519-020-00351-7. Epub 2020 Mar 20.
Perforin (PRF1) gene mutation can cause the onset of hemophagocytic lymphohistiocytosis (HLH). It has reported that PRF1 Ala91Val polymorphism was related with HLH risk. In the meta-analysis, we aim to evaluate the association between PRF1 Ala91Val polymorphism and HLH risk.
We accomplished a meta-analysis of six published case-control studies including 391 patients with HLH and 975 controls. We evaluated the quality of each study through Newcastle-Ottawa Scale (NOS). Data analysis was performed with Stata software.
In general, all studies were of high quality (NOS score higher than 7). There were statistically significant between the PRF1 Ala91Val polymorphism and HLH risk though the pooled analysis [for Ala/Val vs. Ala/Ala: pooled odds ratio (OR) = 3.22, 95% confidence interval (CI) 1.08-9.56, P = 0.035, random model; for Ala/Val + Val/Val vs. Ala/Ala: pooled OR = 2.96, 95% CI 1.14-7.69, P = 0.025, random model]. Furthermore, sensitivity analysis also revealed a relationship between PRF1 Ala91Val polymorphism and HLH risk (for Ala/Val vs. Ala/Ala: pooled OR = 5.236, 95% CI 2.72-10.08, P < 0.000, I = 12.1%, P = 0.332; for Ala/Val + Val/Val vs. Ala/Ala, pooled OR = 4.856, 95% CI 2.66-8.85, P < 0.000, I = 5.9%, P = 0.373). Funnel plot and Egger's test did not indicate obvious published bias (P = 0.841 for Ala/Val vs. Ala/Ala; P = 0.284 for Ala/Val + Val/Val vs. Ala/Ala).
This meta-analysis indicated that PRF1 Ala91Val polymorphism affects the factor for developing HLH and future studies of PRF1 Ala91Val on the onset of HLH will be guaranteed.
穿孔素 (PRF1) 基因突变可导致噬血细胞性淋巴组织细胞增生症 (HLH) 的发生。已有报道称 PRF1Ala91Val 多态性与 HLH 风险相关。在本次荟萃分析中，我们旨在评估 PRF1Ala91Val 多态性与 HLH 风险之间的关联。
我们对 6 项已发表的病例对照研究进行了荟萃分析，共纳入 391 例 HLH 患者和 975 名对照。我们通过纽卡斯尔-渥太华量表 (NOS) 评估每个研究的质量。数据分析使用 Stata 软件进行。
总体而言，所有研究的质量均较高 (NOS 评分均高于 7 分)。虽然汇总分析显示 PRF1Ala91Val 多态性与 HLH 风险之间存在统计学显著关联[对于 Ala/Val 与 Ala/Ala：汇总优势比 (OR) = 3.22，95%置信区间 (CI) 1.08-9.56，P = 0.035，随机模型；对于 Ala/Val + Val/Val 与 Ala/Ala：汇总 OR = 2.96，95%CI 1.14-7.69，P = 0.025，随机模型]。此外，敏感性分析也显示出 PRF1Ala91Val 多态性与 HLH 风险之间的关系(对于 Ala/Val 与 Ala/Ala：汇总 OR = 5.236，95%CI 2.72-10.08，P < 0.000，I² = 12.1%，P = 0.332；对于 Ala/Val + Val/Val 与 Ala/Ala，汇总 OR = 4.856，95%CI 2.66-8.85，P < 0.000，I² = 5.9%，P = 0.373)。漏斗图和 Egger 检验未表明存在明显的发表偏倚(P = 0.841，对于 Ala/Val 与 Ala/Ala；P = 0.284，对于 Ala/Val + Val/Val 与 Ala/Ala)。
本荟萃分析表明，PRF1Ala91Val 多态性影响 HLH 的发病因素，未来对 PRF1Ala91Val 与 HLH 发病关系的研究将得到保证。
