Kim Hee Joung, Lee Hye Won, Lee Ji Eun, Joh Joon Sung, Han Sung Koo, Shim Young-Soo, Yim Jae-Joon
Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, and Lung Institute, Seoul National University College of Medicine, Seoul, Republic of Korea.
Respirology. 2007 Jan;12(1):49-53. doi: 10.1111/j.1440-1843.2006.01003.x.
The genetic factors for the development of bronchiectasis are not well understood in most patients. The aim of this study was to elucidate the possible association between bronchiectasis and guanine-thymine (GT) repeat polymorphism in intron 2 of the human Toll-like receptor 2 (TLR2), which has a crucial role in adaptive as well as innate immunity.
A total of 194 patients with bronchiectasis and the same number of age- and gender-matched healthy blood donors were prospectively enrolled. The numbers of GT repeats were determined by PCR and gene scans. For further analysis, the alleles were classified into three subclasses: 12-16 GT repeats, short alleles (S allele); 17-22 repeats, medium-length alleles (M allele); and 23-27 repeats, long alleles (L allele).
The overall distribution of alleles was not different between patient and control groups (P = 0.71). In addition, the frequencies of genotypes including short alleles were not different between patient and control groups (P = 0.92). Extent of bronchiectasis (P = 0.92) and bacterial colonization (P = 0.48) were not associated with any subclass genotype.
Alleles and genotype including the shorter GT repeats in intron 2 of the TLR2, were not associated with the development, extent and bacterial colonization of bronchiectasis in Koreans.
大多数支气管扩张症患者发病的遗传因素尚不清楚。本研究旨在阐明支气管扩张症与人类Toll样受体2(TLR2)第2内含子中鸟嘌呤-胸腺嘧啶(GT)重复多态性之间可能存在的关联,该受体在适应性免疫和先天性免疫中均起关键作用。
前瞻性纳入194例支气管扩张症患者以及相同数量年龄和性别匹配的健康献血者。通过聚合酶链反应(PCR)和基因扫描确定GT重复序列的数量。为进一步分析,将等位基因分为三个亚类:12 - 16个GT重复序列,短等位基因(S等位基因);17 - 22个重复序列,中等长度等位基因(M等位基因);以及23 - 27个重复序列,长等位基因(L等位基因)。
患者组和对照组之间等位基因的总体分布无差异(P = 0.71)。此外,患者组和对照组之间包含短等位基因的基因型频率无差异(P = 0.92)。支气管扩张的程度(P = 0.92)和细菌定植情况(P = 0.48)与任何亚类基因型均无关联。
在韩国人中,TLR2第2内含子中包含较短GT重复序列的等位基因和基因型与支气管扩张症的发生、程度及细菌定植无关。