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.
10.1007/s11596-013-1118-7
- Author:
Bao-huan CAI
1
;
Li-wen CHANG
;
Wen-bin LI
;
Wei LIU
;
Xi-juan WANG
;
Lu-xia MO
;
Ling-xia ZHAO
;
Hong-tao XU
;
Hui YANG
Author Information
1. Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China. caibaohuan@yahoo.com.cn
- Publication Type:Journal Article
- MeSH:
Bronchopulmonary Dysplasia;
ethnology;
genetics;
China;
Female;
Genetic Association Studies;
Genetic Predisposition to Disease;
ethnology;
genetics;
Haplotypes;
genetics;
Humans;
Infant, Newborn;
Introns;
genetics;
Male;
Polymorphism, Single Nucleotide;
genetics;
Pulmonary Surfactant-Associated Protein B;
genetics
- From:
Journal of Huazhong University of Science and Technology (Medical Sciences)
2013;33(3):323-328
- CountryChina
- Language:English
-
Abstract:
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.
