FAM13-A基因多态性与COPD的关联性分析

Analysis of Relationship Between FAM13-A Gene Polymorphism and COPD

目的探讨家族序列相似性13 A(FAM13-A)基因多态性与宁夏地区汉族人群慢性阻塞性肺疾病(COPD)及COPD相关肺动脉高压(PH)的关系。方法选取2016年11月~2018年5月宁夏回族自治区人民医院呼吸内科收治的COPD稳定期患者250例作为病例组,其中包括COPD相关PH患者103例、单纯COPD患者147例。以该院体检中心同期127例汉族健康体检者作为对照组。通过飞行质谱法检测入组人员的基因型,并进行比较。使用SPSS 19.0统计学软件进行结果分析。结果①对照组与COPD组rs2609255、rs1458551、rs2609262位点等位基因及基因型频率比较,差异有统计学意义(均P<0.05)。与GT、TT基因型相比,rs2609255位点GG基因型显著增加了COPD的患病风险(P<0.05)。与CT、TT基因型相比,rs1458551位点CC基因型显著增加了COPD的患病风险(P<0.05)。与CT、TT基因型相比,rs2609262位点CC基因型显著增加COPD的患病风险(P<0.05)。②在单纯COPD组和COPD相关PH亚组中,rs2609255、rs1458551位点等位基因及基因型频率、rs2609262位点基因型频率差异无统计学意义(P>0.05);rs2609262位点等位基因频率在组间差异有统计学意义(P<0.05),与T等位基因相比,rs2609262位点携带C等位基因显著增加患COPD相关PH的风险(P<0.05)。结论FAM13-A基因(rs2609255、rs1458551、rs2609262)位点基因多态性与COPD及COPD相关PH发病相关。

Objective To explore the relationship between family sequence similarity 13 A(FAM13-A)gene polymorphism and chronic obstructive pulmonary disease(COPD),COPD-related pulmonary hypertension(PH)in Han population in Ningxia.Methods Totally 250 patients with COPD(stable phase)admitted to the Department of Respiratory Medicine of the People’s Hospital of Ningxia Hui Autonomous Region from November 2016 to May 2018 served as the case group,including 103 patients with COPD-related PH and 147 patients with simple COPD.During the same period,127 healthy Han nationality subjects were treated as the control group in the physical examination center of the hospital.The genotypes of the enrolled persons were detected by flight mass spectrometry for comparison.SPSS 19.0 statistical software was used to analyze the results.Results Differences in rs2609255,rs1458551,and rs2609262 locus allele and genotype frequencies between the healthy control group and the COPD group were statistically significant(P<0.05).Compared with GT and TT genotypes,the GG genotype at rs2609255 significantly increased the risk of COPD(P<0.05).Compared with CT and TT genotypes,the CC genotype at rs1458551 significantly increased the risk of COPD(P<0.05).Compared with CT and TT genotypes,rs2609262 locus carrying CC genotype significantly increased the risk of COPD(P<0.05).In the simple COPD and COPD-related PH subgroups,there were no significant differences in the allele and genotype frequencies at rs2609255 and rs1458551,and the genotype frequency at rs2609262(P>0.05).The allele frequency of rs2609262 locus differed statistically between groups(P<0.05).Compared with the T allele,the C allele at rs2609262 locus significantly increased the risk of COPD-related PH(P<0.05).Conclusion FAM13-A gene(rs2609255,rs1458551,rs2609262)locus gene polymorphisms are related to the pathogenesis of COPD and COPD-related PH.