研究慢性阻塞性肺疾病患者维生素D结合蛋白的基因多态性

Detection of vitamin D binding protein genetical polymorphism in chronic obstructive pulmonary disease

目的研究慢性阻塞性肺疾病（COPD）患者维生素D结合蛋白（VDBP）基因多态性，从而探讨COPD的发病机制。方法COPD组75例和健康对照组69例，提取外周静脉血白细胞DNA，利用聚合酶链反应（PCR）和限制性内切酶技术鉴别VDBP基因型，比较两组间VDBP基因型的分布和表达。结果在COPD组，等位基因1F出现频率高于对照组（58％ vs 39％，P=0．001），其1F-1F纯合子明显高于对照组（32％ vs 11．6％，P=0．003）。在COPD组，等位基因2出现率低于对照组（20％vs 38．0％，P=0．001），其纯合子2-2明显低于对照组（2．7％ vs 18．8％，P=0．004）。结论COPD发病与VDBP基因表达和分布有关，1F等位基因可能是COPD发病的危险因素，1F-1F基因型可能是高危因素。2-2基因型可能是保护因素。

Objective Detection of vitamin D binding protein （VDBP）genetical polymorphism in chronic obstructive pulmonary disease （COPD）. Methods Blood samples were taken from seventy-five with COPD patients and sixty-nine in controls. DNA was extracted form the white blood cells of both groups. Genotypes of VDBP were measured with polymerase chain reaction （PCR） and restriction fragment length polymorphism analysis. Results The frequency of allele 1F in COPD group was higher than that in group control（ 58% vs39% ,P = 0. 001 ）, the proportion of allele 1F homozygote was significantly higher in COPD group than that in group control （32%vs11.6% ,P =0. 003 ）. In COPD group the frequency of allele 2 was significantly lower than that in group control（ 20% vs38. 0% , P = 0. 001 ）. Phenotype 2-2 showed a decreasing in group COPD. Conclusion The VDBP polymorphism was associated with COPD, allele 1F may increase the risk of COPD, 1F homozygote is one of the most risk factors for COPD, The protective effect of COPD was 2-2 homozygote.