在哥伦比亚人群中，一种与哮喘以及对螨过敏原的特异性免疫球蛋白E反应相关的一氧化氮合酶1（NOS1）基因多态性。
A NOS1 gene polymorphism associated with asthma and specific immunoglobulin E response to mite allergens in a Colombian population.
作者信息
Martínez B, Barrios K, Vergara C, Mercado D, Jiménez S, Gusmão L, Caraballo L
机构信息
Institute for Immunological Research, University of Cartagena, Cartagena, Colombia.
出版信息
Int Arch Allergy Immunol. 2007;144(2):105-13. doi: 10.1159/000103221. Epub 2007 May 24.
BACKGROUND
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.
METHODS
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.
RESULTS
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.
CONCLUSION
NOS1 exon 29 CA-repeat may be a risk factor for asthma susceptibility and mite specific IgE response in a Colombian population.
背景
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。
方法
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。
结果
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。
结论
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。
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