HHIP基因rs10519717、rs7689420位点多态性与新疆蒙古族慢性阻塞性肺疾病易感性
|
摘要
目的探讨HHIP基因rs10519717、rs7689420位点多态性与新疆蒙古族慢性阻塞性肺疾病(COPD)易感性及其肺功能的关系。方法选取259例吸烟的蒙古族COPD患者为病例组,245例吸烟的蒙古族健康者作为对照组。并测定受试对象的FVC、FEV1、FEV1pred%、FEV1/FVC。提取外周血标本DNA,运用SnaPshot-PCR分型技术检测HHIP基因rs10519717、rs7689420位点多态性。结果两位点与新疆蒙古族COPD发病风险相关性分析结果显示rs10519717位点基因型共显性模型中TT vs. TC在病例组和对照组间比较差异有统计学意义(P <0.05);显性模型、加性模型在病例组和对照组间比较差异有统计学意义(均P <0.05)。rs7689420位点基因型的共显性模型、显性模型、隐性模型、加性模型在病例组和对照组间比较差异有统计学意义(均P <0.05)。结论 HHIP基因rs10519717、rs7689420位点多态性可能与新疆蒙古族人群COPD的易感性相关。
Objective To investigate the relationship among the polymorphism of HHIP gene rs10519717 and rs7689420,susceptibility to chronic obstructive pulmonary disease(COPD)and lung function of Mongolian population in Xinjiang. Methods Totally 259 smoking Mongolian COPD patients were selected as the observation group and 245 healthy Mongolian smokers as the control group. FVC,FEV1,FEV1 pred% and FEV1/FVC of all subjects were measured. DNA was extracted from peripheral blood samples and the polymorphism of HHIP gene rs10519717 and rs7689420 was detected by SnaPshot-PCR typing technology. Results Correlation analysis between the two sites and risk of COPD in Mongolian population showed that the differences of TT vs. TC in rs10519717 site genotype co-dominance model between the observation group and control group had statistical significance(P < 0.05)and the differences of dominant model and additive model between the observation group and control group showed statistical significance(all P < 0.05). The differences of co-dominance model,dominance model,recessive model and additive modet al rs7689420 site genotype between the observation group and control group had statistical significance(all P < 0.05). Conclusion The polymorphism of HHIP gene rs10519717 and rs7689420 may be related to the susceptibility to COPD in Mongolian ethnic group in Xinjiang.
Objective To investigate the relationship among the polymorphism of HHIP gene rs10519717 and rs7689420,susceptibility to chronic obstructive pulmonary disease(COPD)and lung function of Mongolian population in Xinjiang. Methods Totally 259 smoking Mongolian COPD patients were selected as the observation group and 245 healthy Mongolian smokers as the control group. FVC,FEV1,FEV1 pred% and FEV1/FVC of all subjects were measured. DNA was extracted from peripheral blood samples and the polymorphism of HHIP gene rs10519717 and rs7689420 was detected by SnaPshot-PCR typing technology. Results Correlation analysis between the two sites and risk of COPD in Mongolian population showed that the differences of TT vs. TC in rs10519717 site genotype co-dominance model between the observation group and control group had statistical significance(P < 0.05)and the differences of dominant model and additive model between the observation group and control group showed statistical significance(all P < 0.05). The differences of co-dominance model,dominance model,recessive model and additive modet al rs7689420 site genotype between the observation group and control group had statistical significance(all P < 0.05). Conclusion The polymorphism of HHIP gene rs10519717 and rs7689420 may be related to the susceptibility to COPD in Mongolian ethnic group in Xinjiang.
引文
[1]GOLD 2017 Global strategy for the diagnosis,management and prevention of COPD[EB/OL].[2017-01-03].http://goldcopd.org/.
[2]POLVERINO F,CELLI B.The Challenge of Controlling the COPD epidemic chronic obstructive pulmonary disease:Unmet needs[J].Am J Med,2018,131(9S):1-6.
[3]ARTIGAS M S,WAIN L V,SHRINE N,et al.Targeted sequencing of lung function loci in chronic obstructive pulmonary disease cases and controls[J].PLos One,2017,12(1):e0170222.
[4]LAO T,JIANG Z,YUN J,et al.Hhip haploinsufficiency sensitizes mice to age-related emphysema[J].Proc Natl Acad Sci US A,2016,113(32):E4681-E4687.
[5]HANCOCK D B,EIJGELSHEIM M,WILK J B,et al.Metaanalyses of genome-wide association studies identify multiple loci associated with pulmonary function[J].Nat Genet,2010,42(1):45-52.
[6]VAN DURME Y M,EIJGELSHEIM M,JOOS G F,et al.Hedgehog-interacting protein is a COPD susceptibility gene:the Rotterdam Study[J].Eur Respir J,2010,36(1):89-95.
[7]中华医学会呼吸病学分会慢性阻塞性肺疾病学组.慢性阻塞性肺疾病诊治指南(2013年修订版)[J].中国医学前沿杂志(电子版),2013,36(4):255-264.
[8]ZHANG Z,WANG J,ZHENG Z,et al.Genetic variants in the hedgehog interacting protein gene are associated with the FEV1/FVC ratio in Southern Han Chinese subjects with chronic obstructive pulmonary disease[J].Biomed Res Int,2017,2017(2):1-10.
[9]ZHAO J,LI M,CHEN J,et al.Smoking status and gene susceptibility play important roles in the development of chronic obstructive pulmonary disease and lung function decline:A population-based prospective study[J].Medicine(Baltimore),2017,96(25):e7283.
[10]ZHOU X,BARON R M,HARDIN M,et al.Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP.[J].Hum Mol Genet,2012,21(6):1325-1335.
[11]DING Y,YANG D,ZHOU L,et al.Variants in multiple genes polymorphism association analysis of COPD in the Chinese Li population[J].Int J Chron Obstruct Pulmon Dis,2015,10(1):1455-1463.
[12]XU G,GAO X,ZHANG S,et al.Comparison of the role of HHIP SNPs in susceptibility to chronic obstructive pulmonary disease between Chinese Han and Mongolian populations[J].Gene,2017,637:50-56.
[13]XIE J,WU H,XU Y,et al.Gene susceptibility identification in a longitudinal study confirms new loci in the development of chronic obstructive pulmonary disease and influences lung function decline[J].Respir Res,2015,16(1):49.
[14]成芳娟,关键,任侠,等.HHIP基因多态性与新疆哈萨克族慢性阻塞性肺疾病易感性的关系研究[J].中国全科医学,2017,20(19):2378-2382.
[15]任侠,关键,张中宏,等.HHIP基因慢rs1828591、rs12504628与新疆维吾尔族性阻塞性肺疾病的相关性[J].实用医学杂志,2017,33(5):692-695.
[2]POLVERINO F,CELLI B.The Challenge of Controlling the COPD epidemic chronic obstructive pulmonary disease:Unmet needs[J].Am J Med,2018,131(9S):1-6.
[3]ARTIGAS M S,WAIN L V,SHRINE N,et al.Targeted sequencing of lung function loci in chronic obstructive pulmonary disease cases and controls[J].PLos One,2017,12(1):e0170222.
[4]LAO T,JIANG Z,YUN J,et al.Hhip haploinsufficiency sensitizes mice to age-related emphysema[J].Proc Natl Acad Sci US A,2016,113(32):E4681-E4687.
[5]HANCOCK D B,EIJGELSHEIM M,WILK J B,et al.Metaanalyses of genome-wide association studies identify multiple loci associated with pulmonary function[J].Nat Genet,2010,42(1):45-52.
[6]VAN DURME Y M,EIJGELSHEIM M,JOOS G F,et al.Hedgehog-interacting protein is a COPD susceptibility gene:the Rotterdam Study[J].Eur Respir J,2010,36(1):89-95.
[7]中华医学会呼吸病学分会慢性阻塞性肺疾病学组.慢性阻塞性肺疾病诊治指南(2013年修订版)[J].中国医学前沿杂志(电子版),2013,36(4):255-264.
[8]ZHANG Z,WANG J,ZHENG Z,et al.Genetic variants in the hedgehog interacting protein gene are associated with the FEV1/FVC ratio in Southern Han Chinese subjects with chronic obstructive pulmonary disease[J].Biomed Res Int,2017,2017(2):1-10.
[9]ZHAO J,LI M,CHEN J,et al.Smoking status and gene susceptibility play important roles in the development of chronic obstructive pulmonary disease and lung function decline:A population-based prospective study[J].Medicine(Baltimore),2017,96(25):e7283.
[10]ZHOU X,BARON R M,HARDIN M,et al.Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP.[J].Hum Mol Genet,2012,21(6):1325-1335.
[11]DING Y,YANG D,ZHOU L,et al.Variants in multiple genes polymorphism association analysis of COPD in the Chinese Li population[J].Int J Chron Obstruct Pulmon Dis,2015,10(1):1455-1463.
[12]XU G,GAO X,ZHANG S,et al.Comparison of the role of HHIP SNPs in susceptibility to chronic obstructive pulmonary disease between Chinese Han and Mongolian populations[J].Gene,2017,637:50-56.
[13]XIE J,WU H,XU Y,et al.Gene susceptibility identification in a longitudinal study confirms new loci in the development of chronic obstructive pulmonary disease and influences lung function decline[J].Respir Res,2015,16(1):49.
[14]成芳娟,关键,任侠,等.HHIP基因多态性与新疆哈萨克族慢性阻塞性肺疾病易感性的关系研究[J].中国全科医学,2017,20(19):2378-2382.
[15]任侠,关键,张中宏,等.HHIP基因慢rs1828591、rs12504628与新疆维吾尔族性阻塞性肺疾病的相关性[J].实用医学杂志,2017,33(5):692-695.