Fatahi Neda, Niknafs Nikoo, Kalani Majid, Dalili Hosein, Shariat Mamak, Amini Elaheh, Esmaeilnia Shirvani Tahereh, Hardani Amir Kamal, Taheritafti Roya, Ghasemi-Fakhr Nasrin, Ghadami Mohsen, Tavakkoly-Bazzaz Javad, Rashidi-Nezhad Ramin, Nayeri Fatemeh, Rashidi-Nezhad Ali
a Maternal, Fetal and Neonatal Research Center , Imam Khomeini Hospital Complex, Tehran University of Medical Sciences , Tehran , Iran.
b Ronash Medical Genetic Center , Tehran , Iran.
J Matern Fetal Neonatal Med. 2018 Nov;31(22):2965-2970. doi: 10.1080/14767058.2017.1359829. Epub 2017 Aug 7.
Respiratory distress syndrome (RDS) is a severe pulmonary disease predominantly affects preterm newborns. Polymorphisms of surfactant-protein genes have been mostly evaluated as the candidate contributors in genetics of RDS. However the results are divers in different studies. We aimed at investigating the association of surfactant protein B (SPB) gene 9306 A/G polymorphism (rs7316) with RDS development.
Three hundred and eighty newborns with gestational age of less than 34 weeks were included in a multicenter case-control study. Respiratory distress (RD) was scored according to Downes' scoring system. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping.
One hundred and eighty-four neonates showed RDS and 196 did not. Gestational age (GA) was significantly lower in the RDS group compared with the controls. AA genotype and A allele were found more frequently in the RDS group than the controls (96.2% versus 63.8% and 98.1% versus 80.6%, respectively) (p =.0001).
This is the first report of association of SFTPB rs7316 polymorphism with RDS development in Iranian newborns. The current study suggests that GA <28-weeks is the most important factor in predisposition to RDS. Genetic background in terms of SP-B gene might be involved in predisposition to RDS in premature neonates.
呼吸窘迫综合征（RDS）是一种主要影响早产新生儿的严重肺部疾病。表面活性蛋白基因多态性大多被评估为RDS遗传学中的候选影响因素。然而，不同研究的结果存在差异。我们旨在研究表面活性蛋白B（SPB）基因9306 A/G多态性（rs7316）与RDS发生之间的关联。
一项多中心病例对照研究纳入了380例孕周小于34周的新生儿。根据唐斯评分系统对呼吸窘迫（RD）进行评分。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法进行基因分型。
184例新生儿出现RDS，196例未出现。与对照组相比，RDS组的孕周（GA）显著更低。RDS组中AA基因型和A等位基因的出现频率高于对照组（分别为96.2%对63.8%和98.1%对80.6%）（p = 0.0001）。
这是伊朗新生儿中关于SFTPB rs7316多态性与RDS发生关联的首次报道。当前研究表明，GA<28周是RDS易感性的最重要因素。就SP-B基因而言，遗传背景可能参与了早产新生儿RDS的易感性。
