Lung disease and Pseudomonas aeruginosa (P. aeruginosa) airway colonization represent a major cause of morbidity and mortality in cystic fibrosis (CF). Human beta-defensin (hBD)-1 is believed to play an important role in mucosal innate immunity in the lung. This study aimed to investigate whether three single-nucleotide polymorphisms (SNPs) in the 5'-untranslated region of DEFB1, G-52A, C-44G and G-20A were associated with P. aeruginosa airway colonization in CF. A total of 224 CF patients and 196 control subjects were studied. DEFB1 SNPs were characterized by restriction fragment length polymorphisms. Patients' sputum samples were collected and analyzed by standard methods. Single SNP analysis suggested that CF patients carrying the -52AA and the -20GG genotypes had a higher rate of P. aeruginosa airway colonization than patients homozygous and heterozygous for the -52G and -20A alleles (P=0.01 and P=0.007, respectively). A significant association between the ACG haplotype and chronic P. aeruginosa infection was also identified (odds ratio (95% confidence interval): 3.00 (1.42-6.36), P=0.004). These results indicate that variant alleles in DEFB1 might contribute to the colonization of P. aeruginosa in CF.

中文翻译：

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β-防御素-1基因多态性与铜绿假单胞菌气道定植在囊性纤维化中的关联。

肺疾病和铜绿假单胞菌（P. aeruginosa）气道定植是囊性纤维化（CF）发病率和死亡率的主要原因。人β-防御素（hBD）-1被认为在肺粘膜固有免疫中起重要作用。这项研究旨在调查DEFB1，G-52A，C-44G和G-20A的5'-非翻译区中的三个单核苷酸多态性（SNP）是否与CF中的铜绿假单胞菌气道定植有关。共研究了224名CF患者和196名对照对象。DEFB1 SNPs的特征是限制性片段长度多态性。收集患者的痰液样本并通过标准方法进行分析。单个SNP分析表明，携带-52AA和-20GG基因型的CF患者的P发生率更高。对于-52G和-20A等位基因，纯铜和杂合患者的铜绿假单胞菌气道定植率分别较高（分别为P = 0.01和P = 0.007）。还确定了ACG单倍型与慢性铜绿假单胞菌感染之间的显着相关性（几率（95％置信区间）：3.00（1.42-6.36），P = 0.004）。这些结果表明DEFB1中的变异等位基因可能有助于CF中的铜绿假单胞菌定植。