Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role

Luo, Xi1; Zhao, Min1; Chen, Cheng3; Lin, Fengji3; Li, Xiaodong4; Huang, Haiyun4; Dou, Lei2; Feng, Jinxing5; Xiao, Shanqiu6; Liu, Dong7; He, Junli8; Yu, Jialin1,2

2023-02-01

10.1007/s00431-022-04779-z

EUROPEAN JOURNAL OF PEDIATRICS   影响因子和分区

0340-6199

1432-1076

Bronchopulmonary dysplasia (BPD) is a common chronic respiratory disease in preterm infants caused by multifactorial etiology. Genetic factors are involved in the occurrence of BPD, but studies have found that candidate genes have poor reproducibility and are influenced by ethnic heterogeneity; therefore, more exploration is still needed. We performed whole-exon sequencing in 34 preterm infants with BPD and 32 non-BPD control neonates. The data were analyzed and interpreted by Fisher difference comparison, PLINK and eQTL association analysis, KEGG and GO enrichment analysis, STRING tool, Cytoscape software, ProtParam tool, HOPE online software, and GEOR2 analysis on NCBI GEO dataset. BPD has a highly heterogeneity in different populations, and we found 35 genes overlapped with previous whole-exon sequencing studies, such as APOB gene. Arterial and epithelial cell development and energy metabolism pathways affect BPD. In this study, 24 key genes were identified, and BIVM rs3825519 mutation leads to prolonged assisted ventilation in patients with BPD. A novel DDAH1 mutation site (NM_012137: exon1: c.89 T > G: p.L30R) was found in 9 BPD patients.Conclusion: BIVM gene rs3825519 mutation may play a role in the pathogenesis of BPD by affecting cilia movement, and the DDAH1 and APOB genes mutations may have a pathogenic role in BPD.

Bronchopulmonary dysplasia Genetic susceptibility Whole-exome sequencing Single-nucleotide polymorphisms BIVM gene

SCI

英语

通讯

National Natural Science Foundation of China[81971431]

Pediatrics

Pediatrics

WOS:000932004900005

SPRINGER

CLINICAL MEDICINE

Web of Science

1.Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Key Lab Child Dev & Disorders, Chongqing Key Lab Child Infect & Immun,Chongqing K, 136 Zhongshan 2nd Rd, Chongqing 40014, Peoples R China
2.Southern Univ Sci & Technol Hosp, Dept Neonatol, 6019 Liuxian Ave,Xili St, Shenzhen 518055, Peoples R China
3.Shenzhen Longgang Dist Matern & Child Healthcare H, Dept Neonatol, Shenzhen 518172, Peoples R China
4.Huazhong Univ Sci & Technol, Union Shenzhen Hosp, NanShan Hosp, Dept Neonatol, Shenzhen 518052, Peoples R China
5.Shenzhen Childrens Hosp, Dept Neonatol, Shenzhen 518031, Peoples R China
6.Shenzhen Baoan Womens & Childrens Hosp, Dept Neonatol, Shenzhen 518133, Peoples R China
7.Shenzhen Peoples Hosp, Dept Neonatol, Shenzhen 518020, Peoples R China
8.Shenzhen Univ Gen Hosp, Dept Neonatol, Shenzhen 518055, Peoples R China

Luo, Xi,Zhao, Min,Chen, Cheng,et al. Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role[J]. EUROPEAN JOURNAL OF PEDIATRICS,2023.

Luo, Xi.,Zhao, Min.,Chen, Cheng.,Lin, Fengji.,Li, Xiaodong.,...&Yu, Jialin.(2023).Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role.EUROPEAN JOURNAL OF PEDIATRICS.

Luo, Xi,et al."Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role".EUROPEAN JOURNAL OF PEDIATRICS (2023).