Zhang G, Goldblatt J, LeSouëf P N
School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
Allergy. 2008 Nov;63(11):1411-7. doi: 10.1111/j.1398-9995.2008.01804.x.
This review considers the data from studies analysing associations between the CD14C-159T single nucleotide polymorphism (SNP) and asthmatic phenotypes and discusses the variability of the conclusions. By searching PubMed and EMBASE for articles on CD14C-159T -related population or family-based association studies, 47 were identified up till September 2007. Collectively, the studies reviewed herein consistently showed population differences in frequencies of the alleles of the SNP, with African descent having the highest C allele frequencies, followed by Caucasians and Asians. The T allele of the SNP was associated with increased sCD14 in some studies but not in others. Inconsistently, the C allele, or even occasionally the T allele, was associated with atopic phenotypes in a population subgroup. There are several explanations for these inconsistencies, including lack of power, linkage disequilibrium, gene-gene interactions, population admixture and gene-environment interactions. If the SNP was associated with functional changes to the coded protein and thus modulating susceptibility to allergic disease, its effect may be modest and dependent on other co-existent, ethnicity-specific, genetic or environmental risk factors.
本综述考量了分析CD14 C-159T单核苷酸多态性(SNP)与哮喘表型之间关联的研究数据,并讨论了结论的变异性。通过检索PubMed和EMBASE上关于CD14 C-159T相关的基于人群或家系的关联研究文章,截至2007年9月共识别出47篇。总体而言,本文所综述的研究一致显示该SNP等位基因频率存在人群差异,非洲裔人群的C等位基因频率最高,其次是白种人和亚洲人。在一些研究中,该SNP的T等位基因与可溶性CD14(sCD14)升高有关,但在其他研究中并非如此。不一致的是,在一个人群亚组中,C等位基因,甚至偶尔T等位基因,与特应性表型有关。对于这些不一致性有多种解释,包括检验效能不足、连锁不平衡、基因-基因相互作用、人群混合以及基因-环境相互作用。如果该SNP与编码蛋白的功能变化相关,从而调节对过敏性疾病的易感性,其影响可能较小,并且取决于其他共存的、特定种族的、遗传或环境风险因素。