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surfactant protein b 1580 Polymorphism Is Associated with Susceptibility to Chronic Obstructive Pulmonary Disease in Chinese Han Population

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2004年第3期24卷 216-218,238页

作者：胡瑞成徐永健张珍祥 Department of Respiratory Medicine Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China

Summary: Whether surfactant protein b (SP-b)-18A/C and 1580C/T polymorphism were associated with susceptibility to chronic obstructive pulmonary disease (COPD) in Chinese Han population was investigated. After genomic DNA was isolated from blood of COPD smokers and control smokers, the genotypes of SP-b-18A/C and SP-b1580C/T polymorphism loci were determined by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) respectively. The results showed that there was significant difference in genotypes distribution frequency of SP-b1580C/T polymorphism locus between COPD smokers and control smokers. C→T mutation rate (including TT homozygote and CT heterozygote) in COPD smokers was higher than in control smokers (57.9 % vs 41.7 %, χ2=4.93, Pbution frequency of SP-b1580-18A/C locus between COPD smokers and control smokers. The allele frequency (29.1 %) of SP-b1580-18A/C locus is lower than T allele (70.9 %) in Chinese Han Population, and the distribution was different from that in Mexican, in which, the A and T allele frequencies were 85 % and 15 % respectively. It was concluded that SP-b1580 T allele was probably associated with increased susceptibility to COPD in Chinese Han population; The polymorphism of SP-b-18A/C locus maybe varied with race.

关键词： chronic obstructive pulmonary disease surfactant protein b genetics polymorphism

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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

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2013年第3期33卷 323-328页

作者：蔡保欢常立文李文斌刘伟王席娟莫璐霞赵玲霞徐洪涛杨慧 Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology

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.

关键词： bronchopulmonary dysplasia surfactant protein b polymorphism

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