Li J, Liu Q, Wang P, Li H, Wei C, Guo C, Gong Y
Key Laboratory of Experimental Teratology, Ministry of Education, China.
Int J Immunogenet. 2007 Oct;34(5):353-7. doi: 10.1111/j.1744-313X.2007.00699.x.
The PTGDR gene has been suggested to be an asthma susceptibility gene in previous genome-wide linkage studies as well as in functional studies in a mouse model of asthma. Recently, promoter polymorphisms of the PTGDR gene have been reported to be associated with asthma in American and European populations. In order to determine the association of PTGDR promoter polymorphisms and asthma susceptibility in a Chinese Han population, three promoter single nucleotide polymorphisms (SNP) -549T/C, -441C/T, and -197T/C were genotyped in 336 patients with asthma and 264 healthy controls. Asthma was diagnosed according to the American Thoracic Society (ATS) criteria. SNPs -549T/C and -441C/T were genotyped by Tetra-primer Amplification Refractory Mutation System PCR method and -197T/C by polymerase chain reaction-restriction fragment length polymorphism method. Unlike the results observed in American and European populations, none of the three SNPs nor any haplotypes in the PTGDR promoter region were found to be associated with asthma susceptibility in this Chinese Han population (all P-value > 0.05). The frequencies for both high-transcriptional-efficiency haplotype (CCC) and low-transcriptional-efficiency haplotype (TCT) were lower than 1% in patients and controls, significantly different from those observed in American and European populations. These results suggest that the three PTGDR gene promoter polymorphisms studied are not important risk factors for asthma susceptibility in the Chinese Han population.
在先前的全基因组连锁研究以及哮喘小鼠模型的功能研究中,PTGDR基因被认为是一个哮喘易感基因。最近,据报道PTGDR基因的启动子多态性与美国和欧洲人群的哮喘有关。为了确定PTGDR启动子多态性与中国汉族人群哮喘易感性之间的关联,对336例哮喘患者和264例健康对照进行了3个启动子单核苷酸多态性(SNP)-549T/C、-441C/T和-197T/C的基因分型。哮喘根据美国胸科学会(ATS)标准进行诊断。-549T/C和-441C/T通过四引物扩增阻滞突变系统PCR方法进行基因分型,-197T/C通过聚合酶链反应-限制性片段长度多态性方法进行基因分型。与在美国和欧洲人群中观察到的结果不同,在这个中国汉族人群中,未发现PTGDR启动子区域的这3个SNP以及任何单倍型与哮喘易感性相关(所有P值>0.05)。高转录效率单倍型(CCC)和低转录效率单倍型(TCT)在患者和对照中的频率均低于1%,与在美国和欧洲人群中观察到的频率有显著差异。这些结果表明,所研究的3个PTGDR基因启动子多态性不是中国汉族人群哮喘易感性的重要危险因素。