Summary： This study aimed to investigate the association between surfactant protein B （SP-B） pol- ymorphisms and bronchopulmonary dysplasia （BPD） in Chinese Han infants. We performed a case- control study includi...Summary： This study aimed to investigate the association between surfactant protein B （SP-B） pol- ymorphisms and bronchopulmonary dysplasia （BPD） in Chinese Han infants. We performed a case- control 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 geno- type distribution of C/A-18 and intron 4 polymorphisms of SP-B gene between cases and controls. No significant differences were detected in fhe genotype distribution of C/T1580 or A/G9306 be- tween 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 polymor- phisms 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 deter- mining susceptibility to BPD.展开更多
基金supported by grants from the National Natural Science Foundation of China (Nos. 30872795 and 81170001)
文摘Summary： This study aimed to investigate the association between surfactant protein B （SP-B） pol- ymorphisms and bronchopulmonary dysplasia （BPD） in Chinese Han infants. We performed a case- control 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 geno- type distribution of C/A-18 and intron 4 polymorphisms of SP-B gene between cases and controls. No significant differences were detected in fhe genotype distribution of C/T1580 or A/G9306 be- tween 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 polymor- phisms 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 deter- mining susceptibility to BPD.
