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

• Published in: Journal of Huazhong University of Science and Technology. Medical sciences 2013-06, Vol.33 (3), p.323-328
• Main Authors: Cai, Bao-huan, Chang, Li-wen, Li, Wen-bin, Liu, Wei, Wang, Xi-juan, Mo, Lu-xia, Zhao, Ling-xia, Xu, Hong-tao, Yang, Hui
• Format: Article
• Language: English
• Subjects: Bronchopulmonary Dysplasia - ethnology; Bronchopulmonary Dysplasia - genetics; China; Computer programs; Female; Genetic Association Studies; Genetic Predisposition to Disease - ethnology; Genetic Predisposition to Disease - genetics; Haplotypes - genetics; Humans; Infant, Newborn; Introns - genetics; Male; Medicine; Medicine & Public Health; Polymorphism, Single Nucleotide - genetics; Pulmonary Surfactant-Associated Protein B - genetics
• ISSN: 1672-0733; 1993-1352
• DOI: 10.1007/s11596-013-1118-7

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.