血管紧张素转化酶基因插入或缺失多态性与新生儿危重症关系的研究

Relationship between angiotensin converting enzyme gene insertion/deletion polymorphism and the severe morbidity of neonates

目的检测血管紧张素转化酶(angiotensinconvertingenzyme,ACE)基因型,探讨ACE基因插入或缺失多态性与新生儿危重症的关系。方法451例新生儿分为正常对照组116例,按新生儿危重病例评分标准将入NICU者于入院第1天分为非危重病组237例和危重病组98例。提取DNA进行基因分型。结果危重病组比正常对照组、非危重病组DD基因型频率高、II基因型频率低。DD基因型危重病评分低于ID和II(P<0.01),ID和II基因型间无差异(P>0.05)。DD基因型新生儿呼吸窘迫综合征发病率11.5%、新生儿湿肺发病率13.5%,需要呼吸机治疗者18.8%,高于ID+II的3.9%、6.2%和8.7%,差异均有统计学意义(P均<0.05)。DD基因型发生代谢性酸中毒17.7%、低钠血症19.8%、低血糖症35.4%,高于ID+II的8.4%、11.5%和23.4%,差异均有统计学意义(P均<0.05)。247例早产儿中,发生动脉导管未闭DD基因型21.6%,高于ID+II的9.7%(P<0.05)。结论ACE基因插入或缺失多态性与新生儿危重症有相关性。DD基因型患儿病情相对重,心肺功能适应性相对差。

Objective To investigate the relationship between angiotensin converting enzyme （ACE） gene insertion/deletion （I/D） polymorphism and the severe morbidity of neonates. Methods According to the Neonatal Critical Score （draft）, neonates were divided into three groups：control group （n=116）, non-critical group （n= 237） and critical group （n=98）. ACE genotype was determined by PCR. Results The DD genotype was significantly higher in critical group compared with the other two. The critical score on first day of hospitalization was significantly lower in DD genotype than ID or Ⅱ （93.52±6.99 vs 96.43 ± 5.80 and 96.22 ±6.41, P〈0.01）. Compared with ID＋ Ⅱ group, more DD subjects developed neonatal respiratory distress syndrome （11.5 % vs 3. 9 %, P 0. 01） and wet lung syndrome （13.5% vs 6.2%, P〈0. 05）. More DD subjects （18. 8%） required mechanical ventilation than ID＋Ⅱ ones （8. 7%） （P〈0.01）. Compared with ID＋Ⅱ group, the incidence of metabolic acidosis （17.7% vs 8.4%, P〈0.01）, hyponatremia （19.8% vs 11.5%, P〈 0. 05） and hypoglycemia （35.4% vs 23.4%, P〈0. 05） were higher in DD group. Among the preterm infants, more patent ductus arteriosus cases were detected in DD group（21.6%） compared with ID＋Ⅱ group（9.7%） （P〈0.05）. Conclusions ACE gene I/D polymorphism is associated with increased severity of neonatal morbidity. The DD genotype, encoding higher ACE activity, may adversely influence the early health status of newborns.