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表面活性蛋白 A 基因多态性与中国女性复发性尿路感染易感性相关。

Polymorphisms in the surfactant protein a gene are associated with the susceptibility to recurrent urinary tract infection in chinese women.

机构信息

Department of Medicine, Renmin Hospital of Wuhan University, Wuhan, Hubei, China.

出版信息

Tohoku J Exp Med. 2010 May;221(1):35-42. doi: 10.1620/tjem.221.35.

Abstract

Some risk factors for susceptibility to recurrent urinary tract infection (r-UTI) are well known, but the genetic role in acquiring the disease is poorly understood. Surfactant protein A and D (SP-A and SP-D) play an important role in modulation of lung inflammatory processes. The SP-A1 and SP-A2 genes encoding SP-A and the SP-D gene are highly polymorphic, and some of polymorphisms are associated with several infective diseases, including pyelonephritis. In the present study, we investigated whether some of these polymorphisms are associated with the risk of r-UTI in Chinese population. Genomic DNA was extracted from blood samples of 32 female patients with r-UTI and 30 age-matched, unrelated healthy female subjects. Genotyping of gene polymorphisms was analyzed by PCR. Among 11 single nucleotide polymorphisms (SNPs) (five of SP-A1, four of SP-A2 and two of SP-D) observed in the enrolled subjects, Ala19Val of SP-A1 and Lys223Gln of SP-A2 were associated with susceptibility to r-UTI. The frequencies of 19Ala allele of SP-A1 gene (p = 0.038) and 223Gln allele of SP-A2 gene (p = 0.012) in the patients were significantly higher than those in healthy subjects. The serum SP-A and SP-D levels were increased and the urine SP-A and SP-D levels were decreased in r-UTI patients compared with control subjects (p < 0.05). r-UTI patients with 19Ala/Ala or 223Gln/Gln genotype were associated with high serum and low urine SP-A levels (p < 0.01). Therefore, the 19Ala allele of SP-A1 gene and the 223Gln allele of SP-A2 gene are risk factors for r-UTI.

摘要

一些易患复发性尿路感染(r-UTI)的风险因素是众所周知的,但遗传因素在发病中的作用尚不清楚。表面活性蛋白 A 和 D(SP-A 和 SP-D)在调节肺部炎症过程中发挥着重要作用。编码 SP-A 的 SP-A1 和 SP-A2 基因和 SP-D 基因高度多态性,一些多态性与包括肾盂肾炎在内的几种感染性疾病有关。在本研究中,我们研究了这些多态性中的一些是否与中国人群 r-UTI 的风险相关。从 32 名 r-UTI 女性患者和 30 名年龄匹配、无关的健康女性受试者的血液样本中提取基因组 DNA。通过 PCR 分析基因多态性的基因型。在所研究的受试者中观察到的 11 个单核苷酸多态性(SNP)(SP-A1 中有 5 个,SP-A2 中有 4 个,SP-D 中有 2 个)中,SP-A1 的 Ala19Val 和 SP-A2 的 Lys223Gln 与 r-UTI 的易感性相关。SP-A1 基因 19Ala 等位基因(p = 0.038)和 SP-A2 基因 223Gln 等位基因(p = 0.012)的频率在患者中明显高于健康受试者。与对照组相比,r-UTI 患者的血清 SP-A 和 SP-D 水平升高,尿液 SP-A 和 SP-D 水平降低(p < 0.05)。r-UTI 患者的 19Ala/Ala 或 223Gln/Gln 基因型与高血清低尿 SP-A 水平相关(p < 0.01)。因此,SP-A1 基因的 19Ala 等位基因和 SP-A2 基因的 223Gln 等位基因是 r-UTI 的危险因素。

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