Martínez B, Barrios K, Vergara C, Mercado D, Jiménez S, Gusmão L, Caraballo L
Institute for Immunological Research, University of Cartagena, Cartagena, Colombia.
Int Arch Allergy Immunol. 2007;144(2):105-13. doi: 10.1159/000103221. Epub 2007 May 24.
Nitric oxide (NO) is involved in asthma pathogenesis and is synthesized by three isoforms of NO synthase, one of them encoded by NOS1 gene. The CA-repeat and the C5266T SNP in NOS1 exon 29 have been associated with asthma and IgE levels. We thought to test the association of asthma and asthma-related phenotypes with the exon 29 CA-repeat and the C5266T SNP in a Colombian population sample.
The CA-repeat and the C5266T SNP were genotyped in 167 asthmatics and 166 controls using PCR-based fragment length polymorphism and TaqMan assay. We also determined total and mite-specific IgE against Blomia tropicalis and Dermatophagoides pteronyssinus.
Three new CA-repeat alleles, 14, 23 and 24 repeats were detected. Allele comprising 16 repeats was associated with asthma (OR: 1.90 (CI 1.22-2.97, p(c) = 0.028) and low total (p(c) = 0.02) and specific IgE to B. tropicalis (p(c) < 0.0001) and D. pteronyssinus (p(c) < 0.0001). We found no association of the C5266T SNP and asthma or IgE levels.
NOS1 exon 29 CA-repeat may be a risk factor for asthma susceptibility and mite specific IgE response in a Colombian population.
一氧化氮（NO）参与哮喘发病机制，由三种一氧化氮合酶同工型合成，其中一种由NOS1基因编码。NOS1第29外显子中的CA重复序列和C5266T单核苷酸多态性（SNP）与哮喘和免疫球蛋白E（IgE）水平相关。我们试图在哥伦比亚人群样本中检测哮喘及哮喘相关表型与第29外显子CA重复序列和C5266T SNP的关联性。
采用基于聚合酶链反应（PCR）的片段长度多态性分析和TaqMan检测法，对167例哮喘患者和166例对照者进行CA重复序列和C5266T SNP基因分型。我们还测定了针对热带无爪螨和屋尘螨的总IgE及特异性IgE。
检测到三个新的CA重复序列等位基因，分别为14、23和24次重复。包含16次重复的等位基因与哮喘相关（比值比：1.90（95%置信区间1.22 - 2.97，校正P值 = 0.028）），且与低总IgE（校正P值 = 0.02）以及针对热带无爪螨的特异性IgE（校正P值 < 0.0001）和屋尘螨的特异性IgE（校正P值 < 0.0001）相关。我们未发现C5266T SNP与哮喘或IgE水平存在关联。
在哥伦比亚人群中，NOS1第29外显子CA重复序列可能是哮喘易感性和螨特异性IgE反应的一个风险因素。
