SP-D基因多态性与COPD易感性的研究

发布时间：2018-02-28 00:13

本文关键词： 表面活性蛋白D 基因型易感性单核苷酸慢性阻塞性肺疾病　出处：《青岛大学》2015年硕士论文　论文类型：学位论文

【摘要】：目的:初步探讨肺表面活性蛋白D(surfactant protein D,SP-D)基因第1外显子区域的rs721917多态位点、第5外显子区域的rs2243639多态位点各基因型在人群中的分布,并研究SP-D基因上rs721917位点、rs2243639位点与慢性阻塞性肺疾病(chronic obstructive pulmonary disease,COPD)发病之间的关系。方法:采用病例-对照的研究设计方法,收集在青岛市立医院确诊的COPD患者117例为COPD组,在该院体检中心体检的117例健康人为对照组,两组研究对象间的性别、年龄相匹配并且相互之间没有血缘关系。采用全血DNA提取试剂盒提取234例血液样本的DNA。应用聚合酶链反应-PCR检测方法检测两组研究对象SP-D基因rs721-917位点、rs2243639位点各位点的等位基因和基因型的分布情况。结果:(1)在SP-D基因的rs721917位点,发现COPD组和对照组之间的等位基因和各基因型的分布频率均具有统计学差异(χ2=5.200、6.063,P0.05)(两组间等位基因频率:C:56.4%VS 66.7%,T:43.6%VS 33.3%,两组间各基因型的频率:CC:28.2%VS 41.0%,TC:56.4%VS 51.3%,TT:15.4%VS 7.70%)。(2)在SP-D基因的rs721917位点,同CC基因型相比较,TC基因型不能增加COPD的发病风险,其OR值(95%CI)=1.600(0.910-2.814),P=0.103,TT基因型可以增加COPD的发病风险,其OR值(95%CI)=2.909(1.615-7.261),P=0.020。与等位基因C相比较,等位基因T能增加COPD的发病风险,其OR值(95%CI)=1.545(1.602-2.249),P=0.023。(3)在SP-D基因的rs2243639位点,发现COPD组与对照组之间的等位基因和各基因型的分布频率均没有显著的统计学差异(χ2=0.018、0.342,P0.05)(两组间等位基因频率:G:85.9%VS 86.3%,A:14.1%VS 13.7%,两组间基因型频率:GG:74.4%VS76.1%,GA:23.1%VS 20.5%,TT:2.5%VS 3.4%)。(4)在SP-D基因的rs2243639位点,同GG基因型比较,GA基因型不能够增加COPD的患病风险,其OR值(95%CI)=1.151(0.616-2.148),P=0.659,AA基因型也未能够增加COPD患病风险,其OR值(95%CI)=0.767(0.167-3.529),P=0.734。与等位基因G相比较,A等位基因未增加COPD的患病风险,其OR值(95%CI)=1.036(0.614-1.750),P=0.894。结论:(1)SP-D基因的rs721917多态位点可能与COPD的发病有关,等位基因T可能是COPD的易感基因。(2)SP-D基因的rs2243639多态位点可能与COPD的发病无关。
[Abstract]:Objective: to investigate the distribution of rs721917 polymorphism in exon 1 and rs2243639 polymorphism in exon 5 of pulmonary surfactant protein SP-DG gene. To study the relationship between the rs721917 locus rs2243639 on SP-D gene and the pathogenesis of chronic obstructive pulmonary disease of chronic obstructive pulmonary disease (COPD). Methods: using a case-control design method, 117 COPD patients diagnosed in Qingdao Municipal Hospital were collected as COPD group. 117 healthy persons who were examined in the physical examination center of the hospital served as the control group. The sex of the two groups was compared. Age matched and not related to each other. Whole blood DNA extraction kit was used to extract DNAs from 234 blood samples. Polymerase chain reaction-PCR method was used to detect the SP-D gene rs721-917 locus rs2243639 in two groups of subjects. The distribution of alleles and genotypes of the SP-D gene. Results: 1) at the rs721917 site of the SP-D gene, It was found that there were significant differences in the distribution of alleles and genotypes between the COPD group and the control group (蠂 ~ 2 / 5.2006.063 / P 0.05). The rs721917 of the SP-D gene was at the rs721917 locus of the SP-D gene in TW: 46.4VS66.7. TW: 43.6vs 33.3. the frequency of the two groups was CC28.2VS41.0TCw 56.4VS51.3. Compared with CC genotype, TC genotype could not increase the risk of COPD. The OR value of TC genotype was 1.600 ~ 1.600 ~ 0.910-2.814 ~ (?) TT genotype could increase the risk of COPD, and its OR value was 2.909 ~ 1.615-7.261% P0.020.Compared with allele C, allele T could increase the risk of COPD. Its OR value was 1.545 / 1.602-2.249P0. 023. 3) at the rs2243639 site of SP-D gene. It was found that there was no significant difference in the distribution frequency of alleles and genotypes between the COPD group and the control group (蠂 20.018 0.342U P0.05) (the allele frequency between the two groups was: G: 85.9VS 86.3ng), and between the two groups there was no significant difference in the distribution of alleles and genotypes between the two groups. The rs2243639 locus of the SP-D gene was at the rs2243639 site of the SP-D gene, and the frequency of the two groups was as follows: GG74.4VS76.1VS76.1VS20.5. Compared with GG genotype, GA genotype could not increase the risk of COPD, and its OR value was 95%. The OR value of GG genotype was 1.151 ~ 0.616-2.148A / 0.659AA, and the OR value was 0.7670.167-3.529P0.734. Compared with allele G, the risk of COPD was not increased in A allele. Its OR value was 1.036 ~ (0.614-1.750). Conclusion the rs721917 polymorphism of SP-D gene may be related to the pathogenesis of COPD, and the allele T may be the susceptible gene of COPD. The rs2243639 polymorphic locus of SP-D gene may not be related to the pathogenesis of COPD.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R563.9

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