Faculty of Medicine, Department of Medical Genetics, Umm Al-Qura University, Makkah, Kingdom of Saudi Arabia.
Pediatr Pulmonol. 2013 Jul;48(7):699-706. doi: 10.1002/ppul.22748. Epub 2013 Jan 28.
Bronchopulmonary dysplasia (BPD) remains as a major and increasing burden in Egypt.
To determine whether alleles of TNFα-238G > A affect the risk of BPD or the severity of BPD in preterm infants in Egypt.
We prospectively genotyped 220 premature neonates (birth weight <1,500 g and gestational age 26-32 weeks) for the -238 polymorphism, and assessed the clinical risk factors for BPD in our study populations. Infants with BPD were mechanically ventilated.
Infants who developed BPD (n = 120) had a younger gestational age (31.0 ± 2.1 weeks vs. 34.3 ± 1.5 weeks) and lower birth weight (1,490 ± 360 g vs. 1,880 ± 520 g) than infants who did not develop BPD (n = 100). Results of antenatal steroid supplementation, surfactant therapy, or sepsis might affect the genetic modulation of BPD. The -238G > A polymorphism was associated with a twofold risk of BPD (OR = 2.86; 95% confidence interval, 1.35-3.83). Despite the dominance of the G allele in the Egyptian population, the -238A allele was more common among infants with BPD (23%) than among infants without BPD (15%). The A allele occurred less often in infants with mild BPD (9%) than in infants with severe (39%) or moderate (52%). The AA genotype occurred in 15% of cases but in none of the controls.
The TNFα -238G > A polymorphism-particularly the presence of an A allele-should be evaluated as a biomarker to predict the clinical outcome of preterm infants with BPD in Egypt. Even the presence of one copy of this mutant allele appears to be sufficient to influence the severity of disease.
支气管肺发育不良(BPD)在埃及仍然是一个主要且日益严重的负担。
为了确定 TNFα-238G > A 等位基因是否会影响埃及早产儿患 BPD 的风险或 BPD 的严重程度。
我们前瞻性地对 220 名早产儿(出生体重<1500g,胎龄 26-32 周)进行了 -238 多态性基因分型,并评估了我们研究人群中 BPD 的临床危险因素。患有 BPD 的婴儿需要机械通气。
患有 BPD(n=120)的婴儿胎龄较小(31.0±2.1 周 vs. 34.3±1.5 周)和出生体重较低(1490±360g vs. 1880±520g)比未患有 BPD(n=100)的婴儿。产前类固醇补充、表面活性剂治疗或败血症的结果可能会影响 BPD 的遗传调节。-238G > A 多态性与 BPD 的两倍风险相关(OR=2.86;95%置信区间,1.35-3.83)。尽管 G 等位基因在埃及人群中占优势,但 A 等位基因在患有 BPD 的婴儿中更为常见(23%),而在未患有 BPD 的婴儿中则较少见(15%)。轻度 BPD 婴儿中 A 等位基因发生的频率较低(9%),而重度(39%)或中度(52%)BPD 婴儿中则较高。AA 基因型在病例中占 15%,但在对照组中则不存在。
TNFα-238G > A 多态性-特别是 A 等位基因的存在-应作为一种生物标志物来评估埃及患有 BPD 的早产儿的临床结局。即使存在一个这种突变等位基因的拷贝,似乎也足以影响疾病的严重程度。