血小板活化因子乙酰水解酶基因多态性与早产儿颅内出血的关联性

Association between platelet-activating factor acetylhydrolase gene polymorphism and intracranial hemorrhage in preterm infants

摘要:

目的：本研究从基因水平探讨血小板活化因子乙酰水解酶（PAF-AH）基因第9外显子Val279Phe单核苷酸多态性与早产儿颅内出血是否具有关联性，为有效预防颅内出血的发生提供理论依据。方法：选取颅内出血早产儿58例作为出血组，无颅内出血早产儿65例作为对照组，应用聚合酶链式反应（PCR）检测PAF-AH第9外显子Val279Phe单核苷酸多态性位点的基因型及等位基因的分布情况，进行病例对照研究分析。结果：出血组和对照组PAF-AH第9外显子Val279Phe基因型分布频率差异有统计学意义（P＜0.05），其中出血组正常基因型频率（63.8%）明显低于对照组（81.5%）；出血组突变杂合子基因型（34.5%）明显高于对照组（16.9%）。两组PAF-AH等位基因分布频率差异亦有统计学意义（P＜0.05），其中出血组T 等位基因频率（19.0%）明显高于对照组（10.0%）。结论：PAF-AH第9外显子Val279Phe的单核苷酸基因多态性与早产儿颅内出血有关。

Abstract:

OBJECTIVE: To explore whether Val279Phe single nucleotide polymorphisms (SNPs) in the 9th exon of platelet-activating factor acetylhydrolase (PAF-AH) are associated with intracranial hemorrhage in preterm infants. METHODS: A case-control study was performed. Polymerase chain reaction (PCR) was used to test genotype and allele frequencies of the 9th exon Val279Phe SNPs of PAF-AH in 58 preterm infants with intracranial hemorrhage (hemorrhage group) and 65 preterm infants without intracranial hemorrhage (control group). RESULTS: There were significant differences in genotype frequency of Val279Phe SNPs in the 9th exon of PAF-AH between the hemorrhage and control groups (P<0.05). Frequency of normal genotype in the hemorrhage group (63.8%) was significantly lower than in the control group (81.5%). In contrast, frequency of heterozygous genotype (34.5%) in the hemorrhage group was significantly higher than in control group (16.9%). There were also significant differences in allele frequency of Val279Phe SNPs in the 9th exon of PAF-AH between the two groups (P<0.05). T allele frequency in the hemorrhage group (19.0%) was significantly higher than in the control group (10.0%). CONCLUSIONS: Val279Phe SNPs in the 9th exon of PAF-AH may be associated with intracranial hemorrhage in preterm infants.