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SP-D 多态性与 COPD 风险。

SP-D polymorphisms and the risk of COPD.

机构信息

University of Health Science, Lahore, Pakistan.

出版信息

Dis Markers. 2012;33(2):91-100. doi: 10.3233/DMA-2012-0909.

Abstract

INTRODUCTION

There are limited data linking serum levels of surfactant protein D, its genetic polymorphisms to the risk of Chronic Obstructive Pulmonary Disease (COPD).

OBJECTIVES

We sought to investigate these relationships using a case control study design.

METHODS

Post bronchodilator values of FEV1/FVC < 0.7 were used to diagnose COPD patients (n=115). Controls were healthy subjects with normal spirometry (n=106) Single nucleotide polymorphisms (rs721917, rs2243639, rs3088308) were genotyped using polymerase chain reaction (PCR) and restriction analysis. Serum SP-D levels were measured using a specific immunoassay.

RESULTS

Allele 'A' at rs3088308 (p < 0.00, B= -0.41) and 'C' allele at rs721917 (p=0.03; B= -0.30) were associated with reduced serum SP-D levels. Genotype 'T/T' at rs721917 was significantly associated with risk of COPD (p=0.01). Patients with repeat exacerbations had significantly higher serum SP-D even after adjusting for genetic factors.

CONCLUSIONS

We report for the first time that rs3088308 is an important factor influencing systemic SP-D levels and confirm the previous association of rs721917 to the risk of COPD and serum SP-D levels.

摘要

简介

目前仅有有限的数据表明表面活性蛋白 D 的血清水平及其遗传多态性与慢性阻塞性肺疾病(COPD)的发病风险有关。

目的

我们旨在通过病例对照研究设计来探讨这些关系。

方法

使用支气管扩张剂后 1 秒用力呼气量(FEV1)与用力肺活量(FVC)的比值(FEV1/FVC)<0.7 来诊断 COPD 患者(n=115)。对照组为肺功能正常的健康受试者(n=106)。采用聚合酶链反应(PCR)和限制性分析技术对单核苷酸多态性(rs721917、rs2243639、rs3088308)进行基因分型。使用特定的免疫测定法测量血清 SP-D 水平。

结果

rs3088308 位点的等位基因 'A'(p < 0.00,B= -0.41)和 rs721917 位点的 'C' 等位基因(p=0.03;B= -0.30)与血清 SP-D 水平降低相关。rs721917 位点的 'T/T' 基因型与 COPD 风险显著相关(p=0.01)。即使在调整了遗传因素后,反复发生加重的患者的血清 SP-D 水平仍显著升高。

结论

我们首次报道 rs3088308 是影响系统性 SP-D 水平的重要因素,并证实了 rs721917 与 COPD 风险和血清 SP-D 水平之前的关联。

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SP-D polymorphisms and the risk of COPD.SP-D 多态性与 COPD 风险。
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