University of Health Science, Lahore, Pakistan.
Dis Markers. 2012;33(2):91-100. doi: 10.3233/DMA-2012-0909.
There are limited data linking serum levels of surfactant protein D, its genetic polymorphisms to the risk of Chronic Obstructive Pulmonary Disease (COPD).
We sought to investigate these relationships using a case control study design.
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.
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.
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.
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。
我们旨在通过病例对照研究设计来探讨这些关系。
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。
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。
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。