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. 2013 Jun 17;33(3):323–328. doi: 10.1007/s11596-013-1118-7

Association of surfactant protein B gene polymorphisms (C/A-18, C/T1580, intron 4 and A/G9306) and haplotypes with bronchopulmonary dysplasia in chinese han population

Bao-huan Cai 1, Li-wen Chang 1,✉, Wen-bin Li 1, Wei Liu 1, Xi-juan Wang 1, Lu-xia Mo 1, Ling-xia Zhao 1, Hong-tao Xu 1, Hui Yang 1
PMCID: PMC7102067  PMID: 23771654

Summary

This study aimed to investigate the association between surfactant protein B (SP-B) polymorphisms and bronchopulmonary dysplasia (BPD) in Chinese Han infants. We performed a casecontrol study including 86 infants with BPD and 156 matched controls. Genotyping was performed by sequence specific primer-polymerase chain reaction (PCR) and haplotypes were reconstructed by the fastPHASE software. The results showed that significant differences were detected in the genotype distribution of C/A-18 and intron 4 polymorphisms of SP-B gene between cases and controls. No significant differences were detected in the genotype distribution of C/T1580 or A/G9306 between the two groups. Haplotype analysis revealed that the frequency of A-del-C-A haplotype was higher in case group (0.12 to 0.05, P=0.003), whereas the frequency of C-inv-C-A haplotype was higher in control group (0.19 to 0.05, P=0.000). In addition, a significant difference was observed in the frequency of C-inv-T-A haplotype between the two groups. It was concluded that the polymorphisms of SP-B intron 4 and C/A-18 could be associated with BPD in Chinese Han infants, and the del allele of intron 4 and A allele of C/A-18 might be used as markers of susceptibility in the disease. Haplotype analysis indicated that the gene-gene interactions would play an important part in determining susceptibility to BPD.

Key words: bronchopulmonary dysplasia, surfactant protein B, polymorphism

Footnotes

This project was supported by grants from the National Natural Science Foundation of China (Nos. 30872795 and 81170001).

Contributor Information

Bao-huan Cai, Email: caibaohuan@yahoo.com.cn.

Li-wen Chang, Email: lwchang@tjh.tjmu.edu.cn.

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