急性冠脉综合征患者血清IL-18和IL-10水平测定

[目的]检测急性冠脉综合征（ACS）患者IL-18与IL-10水平,探讨其与ACS的关系.[方法]采用酶联免疫吸附法测定75例ACS患者[包括35例急性心肌梗死患者（AMI组）和40例不稳定型心绞痛患者（UAP组）]、33例稳定型心绞痛患者（SAP组）和28例正常对照组血清IL-18和IL-10水平.[结果]IL-18水平AMI组明显高于UAP组（P＜0.05）、SAP组（P＜0.05）和对照组（P＜0.01）,UAP组高于SAP组和对照组（P＜0.01）,SAP组高于对照组（P＜0.01）.IL-10水平AMI组和UAP组显著低于SAP组（P＜0.05）和对照组（P＜0.01）.IL-18水平和IL-10水平为负相关关系（r＝-0.595,P＜0.001）.[结论]IL-18水平可反映动脉粥样硬化的稳定性,IL-18与IL-10水平呈负相关,炎性因子与抗炎因子的失衡可能在ACS的发生发展中起一定作用.     

Smad7基因rs4464148位点单核苷酸多态性与胆管癌的相关性

[目的]探讨Smad7基因rs4464148位点单核苷酸多态性与胆管癌发生风险及预后的相关性.[方法]取湖南省人民医院2010年1月至2014年1月期间行手术切除并经过病理确诊的70例胆管癌组织(观察组)和40例非肿瘤性疾病患者的胆管组织(对照组),所有胆管癌患者术前没有接受过辅助性放化疗.使用LDR-PCR方法进行检测观察组和对照组Smad7基因rs4464148位点单核苷酸多态性,分析不同基因型与胆管癌发病风险及其预后的关系.[结果]Smad7基因rs4464148位点有AA、AG、GG基因型,观察组AG/GG基因型频率和G等位基因频率均高于对照组,差异有统计学意义(P<0.05).Logistic多因素回归分析显示,AG、AG/GG型基因型OR值分别为1.40、1.35,AG/GG基因型可能是胆管癌的发病因素.淋巴结转移、无复发或进展患者AG/GG、AA基因型频率比较,差异有统计学意义(P<0.05).rs4464148 AG/GG基因型患者3年生存率低于AA基因型患者,但差异无统计学意义(P>0.05).[结论]Smad7基因rs4464148位点AG/GG基因型可能是胆管癌的发病危险因素,有可能成为判断胆管癌预后的指标.     

Smad7基因rs4464148位点单核苷酸多态性与胆管癌的相关性

[目的]探讨Smad7基因rs4464148位点单核苷酸多态性与胆管癌发生风险及预后的相关性.[方法]取湖南省人民医院2010年1月至2014年1月期间行手术切除并经过病理确诊的70例胆管癌组织(观察组)和40例非肿瘤性疾病患者的胆管组织(对照组),所有胆管癌患者术前没有接受过辅助性放化疗.使用LDR-PCR方法进行检测观察组和对照组Smad7基因rs4464148位点单核苷酸多态性,分析不同基因型与胆管癌发病风险及其预后的关系.[结果]Smad7基因rs4464148位点有AA、AG、GG基因型,观察组AG/GG基因型频率和G等位基因频率均高于对照组,差异有统计学意义(P<0.05).Logistic多因素回归分析显示,AG、AG/GG型基因型OR值分别为1.40、1.35,AG/GG基因型可能是胆管癌的发病因素.淋巴结转移、无复发或进展患者AG/GG、AA基因型频率比较,差异有统计学意义(P<0.05).rs4464148 AG/GG基因型患者3年生存率低于AA基因型患者,但差异无统计学意义(P>0.05).[结论]Smad7基因rs4464148位点AG/GG基因型可能是胆管癌的发病危险因素,有可能成为判断胆管癌预后的指标.     

白细胞介素17基因启动子区多态性与儿童哮喘易感性的相关性

【目的】探讨白细胞介素17(interleukin-17,IL-17)基因启动子区多态性与儿童支气管哮喘易感的相关性。【方法】选择128例小儿支气管哮喘患儿为哮喘组,158例健康儿童为对照组,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测白细胞介素17基因启动子区-152 G/A 多态性,分析其与儿童支气管哮喘易感的相关性。【结果】哮喘组 IL-17基因启动子区-152A 等位基因频率为50.8%,显著高于对照组42%,差异有统计学意义(P =0.038);哮喘组与对照组之间的 GG、GA 和 AA 等位基因型的分布差异有统计学意义(χ2=7.236,P <0.05),其中 AA 等位基因型在哮喘组中的频率显著高于对照组(29.7% vs 15.2%,P =0.023;OR=2.16,95% CI=1.11~4.2)。【结论】IL-17基因启动子区-152 G/A 多态性和儿童哮喘易感性之间具有相关性。     

IL-10基因单核苷酸多态性与急性淋巴细胞白血病易感性的相关性研究

目的 探讨IL-10基因单核苷酸多态性与ALL发病易感性的关系.方法 选取2007年1月至2009年12月北京大学第一医院、北京市道培医院115例ALL缓解患者,同时选取323名体检健康者作为对照组.采集ALL患者的骨髓以及健康对照者的外周血标本,提取DNA.设计IL-10启动子区-819C/T、-592A/C引物做PCR,应用限制性内切酶Msl Ⅰ、HpyCH4Ⅲ分析其限制性片段长度多态性,并测序验证;同时分析IL-10基因-819位点、-592位点各基因型构成及等位基因在ALL患者组和健康对照组间的差异.用实时定量PCR检测ALL患者EB病毒DNA和BCR/ABL融合基因,分析IL-10基因-819位点、-592位点各基因型构成及等位基因在EB病毒阳性和阴性组间、BCR/ABL融合基因阳性和阴性组间的差异.结果 ALL患者组IL-10基因-819位点的-819CC、-819TT、-819CT基因型比例分别为14.8%(17/115)、45.2%(52/115)、40.0%(46/115),-592位点的-592AA、-592CC、-592AC基因型比例分别为43.5%(50/115)、16.5%(19/115)、40.0%(46/115);健康对照组-819位点的-819CC、-819TT、-819CT基因型比例分别为9.9%(32/323)、16.4%(53/323)、73.7%(238/323),-592位点的-592AA、-592CC、-592AC基因型比例分别为11.8%(38/323)、15.5%(50/323)、72.8%(235/323),ALL患者组与健康对照组间-819和-592位点基因型构成差异均有统计学意义(x2值分别为46.000和54.550,P均＜0.05＝.ALL患者组-819T等位基因比例为65.2%(150/230),-592A等位基因比例为63.5%(146/230),而健康对照组分别为53.5%(344/646)和48.1%(311/646),差异均有统计学意义(x2值分别为9.877和15.986,P均＜0.05＝.ALL患者中42例检测了EB病毒DNA,其中EB病毒阳性22例,EB病毒阴性20例.EB病毒阳性组-819位点的-819CC、-819TT、-819CT基因型比例分别为9.1%(2/22)、40.9%(9/22)、50.0%(11/22),-592位点的-592AA、-592CC、-592AC基因型比例分别为31.8%(7/22)、13.6%(3/22)、54.5%(12/22),EB病毒阴性组分别为35.0%(7/20)、45.0%(9/20)、20.0%(4/20)和35.0%(7/20)、45.0%(9/20)、20.0%(4/20),2组基因型构成差异均无统计学意义(P均＞0.05).ALL患者中36例进行了BCR/ABL融合基因检测,其中阳性20例,阴性16例.BCR/ABL融合基因阳性组-819位点的-819CC、-819TT、-819CT基因型比例分别为0%(0/20)、45.0%(9/20)、55.0%(11/20),-592位点的-592AA、-592CC、-592AC基因型比例分别为45.0%(9/20)、5.0%(1/20)、50.0%(10/20),BCR/ABL融合基因阴性组分别为18.8%(3/16)、50.0%(8/16)、31.3%(5/16)和50.0%(8/16)、18.8%(3/16)、31.3%(5/16),2组基因型构成差异均无统计学意义(P均＞0.05).结论 IL-10基因-819位点TT基因型和-592位点AA基因型人群易患ALL.

Abstract：

Objective To observe the relationship of IL-10 gene single nucleotide polymorphism and the susceptibility to ALL. Methods The bone marrow and peripheral blood samples from 115 ALL patients and 323 healthy controls were collected in Peking University First Hospital and Beijing Dao-pei Hospital from January 2007 to December 2009. The DNA were extracted from all samples. The primers of -819C/T and -592A/C in the promoter region of IL-10 gene were designed for the PCR. The restrictive fragment length polymorphism of IL-10 gene was analyzed by using restrictive enzyme Msl Ⅰ and HpyCH4 Ⅲ.Sequencing was done in part of these samples to confirm the results of PCR. The differences of genotypes and allele ratio of -819 and -592 sites were analyzed between the ALL patients and healthy controls. Real-time quantitative PCR was performed to detect the EB virus (EBV) infection and the expression of BCR/ABL fusion gene. The differences of genotypes and allele ratio of -819 and -592 sites were analyzed between the positive and negative group. Results The genotype ratios of -819CC, -819TT, - 819CT, -592AA,- 592CC and - 592AC were 14. 8% ( 17/115 ), 45.2% ( 52/115 ), 40. 0% ( 46/115 ), 43.5% ( 50/115 ),16. 5% ( 19/115 ), 40. 0% ( 46/115 ) in ALL patients, and were 9. 9% ( 32/323 ), 16. 4% ( 53/323 ),73.7% ( 238/323 ), 11.8% ( 38/323 ), 15.5% ( 50/323 ), 72. 8% ( 235/323 ) in the healthy controls,respectively. The genotypes of -819 and -592 sites had statistically significant differences between the two groups(x2 values were 46.000 and 54.550, all P ＜ 0. 05 ). The allele ratio of -819T and -592A were (65.2%, 150/230) and (63.5%, 146/230) in ALL patients, while they were 53.5% (344/646) and 48. 1% (311/646)in the healthy controls. There were statistically significant differences between the two groups (x2 values were 9. 877 and 15.986, all P ＜ 0. 05 ). The EBV DNA were detected in 42 ALL patients,among which 22 were positive and 20 were negative. The genotype ratios of -819CC, -819TT, -819CT,-592AA, - 592CC, - 592AC in EBV positive group were 9. 1% ( 2/22 ), 40. 9% ( 9/22 ), 50. 0%(11/22) ,31.8% ( 7/22 ), 13.6% ( 3/22 ), 54. 5% ( 12/22 ), while they were 35.0% ( 7/20 ), 45.0%(9/20) ,20. 0% (4/20) ,35.0% (7/20) ,45.0% (9/20) ,20. 0% (4/20) in the EBV negative group. The genotypes of -819 and -592 sites showed no statistical differences between the two groups( all P ＞ 0. 05 ).The BCR/ABL fusion gene were detected in 36 ALL patients, among which 20 were positive and 16 were negative. The genotype ratios of - 819CC, - 819TT, - 819CT, - 592AA, - 592CC, - 592AC in BCR/ABL positive group were 0% (0/20) ,45.0% (9/20) ,55.0% ( 11/20), 45. 0% (9/20) ,5.0% (1/20) ,50. 0%( 10/20), while they were 18. 8% ( 3/16 ), 50. 0% ( 8/16), 31.3% ( 5/16 ), 50. 0% ( 8/16 ), 18. 8%(3/16), 31.3 % (5/16)in the BCR/ABL negative group. The genotypes of -819 and -592 sites showed no statistical differences between the two groups ( all P ＞ 0. 05 ). Conclusion The population with - 819TT and - 592AA genotype of IL-10 gene shows susceptibility to ALL.     

RANTES基因启动子多态性与2型糖尿病并发肾病的相关性

背景:遗传易感性是糖尿病肾病发生发展的一个重要因素。单核细胞在肾脏组织的聚集、向巨噬细胞的分化和某些趋化性细胞因子信号的增强可能与2型糖尿病肾病的发生和发展有着密切的联系。T细胞活化后表达和分泌的调节蛋白RANTES是一种C-C亚族的趋化因子,它可以介导炎性细胞的浸润和活化,引起肾小球和肾间质的损伤,这可能是糖尿病发生发展的一个重要机制。因此,RANTES基因也可能是糖尿病肾病的候选基因。目的:分析RANTES基因启动子-28C/G多态性与中国人2型糖尿病并发肾病之间的关系。设计:病例-对照观察。单位:贵阳医学院附属医院内分泌科,贵州省糖尿病中心。对象:选择2003-09/2005-09在贵阳医学院附属医院和贵州省人民医院内分泌科住院的2型糖尿病患者143例,其中正常白蛋白尿患者53例、合并微量白蛋白尿患者54例,合并大量白蛋白尿患者36例。以及来自贵阳医学院附属医院体检中心的健康对照者55例。方法:所有受试者取外周静脉血3～5mL,应用聚合酶链反应限制性片段长度多态性技术,检测RANTES基因启动子-28C/G基因型。主要观察指标:①各组人群的RANTES基因启动子-28C/G的等位基因频率和基因型频率。②采用Logistic回归分析法分析糖尿病肾病的危险因素。结果:198例受试者全部进入结果分析。①-28C/G的CG基因型频率比较:正常对照组和糖尿病组比较差异不显著(P>0.05);微量白蛋白尿组和大量白蛋白尿组明显高于正常白蛋白尿组(24.1%,47.2%,9.4%,P<0.05),大量白蛋白尿组高于微量白蛋白尿组(P<0.05)。②-28C/G的G等位基因型频率:正常对照组和糖尿病组比较差异不显著(P>0.05);微量白蛋白尿组和大量白蛋白尿组明显高于正常白蛋白尿组(12.0%,23.6%,4.7%,P<0.05),大量白蛋白尿组高于微量白蛋白尿组(P<0.05)。③Logistic回归分析表明-28G阳性基因型与糖尿病肾病相关(95%CI为1.402～15.032,P=0.012)。结论:RANTES基因启动子-28G阳性基因型可能与糖尿病肾病相关。     

IL-10基因单核苷酸多态性与急性淋巴细胞白血病易感性的相关性研究

Objective To observe the relationship of IL-10 gene single nucleotide polymorphism and the susceptibility to ALL. Methods The bone marrow and peripheral blood samples from 115 ALL patients and 323 healthy controls were collected in Peking University First Hospital and Beijing Dao-pei Hospital from January 2007 to December 2009. The DNA were extracted from all samples. The primers of -819C/T and -592A/C in the promoter region of IL-10 gene were designed for the PCR. The restrictive fragment length polymorphism of IL-10 gene was analyzed by using restrictive enzyme Msl Ⅰ and HpyCH4 Ⅲ.Sequencing was done in part of these samples to confirm the results of PCR. The differences of genotypes and allele ratio of -819 and -592 sites were analyzed between the ALL patients and healthy controls. Real-time quantitative PCR was performed to detect the EB virus (EBV) infection and the expression of BCR/ABL fusion gene. The differences of genotypes and allele ratio of -819 and -592 sites were analyzed between the positive and negative group. Results The genotype ratios of -819CC, -819TT, - 819CT, -592AA,- 592CC and - 592AC were 14. 8% ( 17/115 ), 45.2% ( 52/115 ), 40. 0% ( 46/115 ), 43.5% ( 50/115 ),16. 5% ( 19/115 ), 40. 0% ( 46/115 ) in ALL patients, and were 9. 9% ( 32/323 ), 16. 4% ( 53/323 ),73.7% ( 238/323 ), 11.8% ( 38/323 ), 15.5% ( 50/323 ), 72. 8% ( 235/323 ) in the healthy controls,respectively. The genotypes of -819 and -592 sites had statistically significant differences between the two groups(x2 values were 46.000 and 54.550, all P ＜ 0. 05 ). The allele ratio of -819T and -592A were (65.2%, 150/230) and (63.5%, 146/230) in ALL patients, while they were 53.5% (344/646) and 48. 1% (311/646)in the healthy controls. There were statistically significant differences between the two groups (x2 values were 9. 877 and 15.986, all P ＜ 0. 05 ). The EBV DNA were detected in 42 ALL patients,among which 22 were positive and 20 were negative. The genotype ratios of -819CC, -819TT, -819CT,-592AA, - 592CC, - 592AC in EBV positive group were 9. 1% ( 2/22 ), 40. 9% ( 9/22 ), 50. 0%(11/22) ,31.8% ( 7/22 ), 13.6% ( 3/22 ), 54. 5% ( 12/22 ), while they were 35.0% ( 7/20 ), 45.0%(9/20) ,20. 0% (4/20) ,35.0% (7/20) ,45.0% (9/20) ,20. 0% (4/20) in the EBV negative group. The genotypes of -819 and -592 sites showed no statistical differences between the two groups( all P ＞ 0. 05 ).The BCR/ABL fusion gene were detected in 36 ALL patients, among which 20 were positive and 16 were negative. The genotype ratios of - 819CC, - 819TT, - 819CT, - 592AA, - 592CC, - 592AC in BCR/ABL positive group were 0% (0/20) ,45.0% (9/20) ,55.0% ( 11/20), 45. 0% (9/20) ,5.0% (1/20) ,50. 0%( 10/20), while they were 18. 8% ( 3/16 ), 50. 0% ( 8/16), 31.3% ( 5/16 ), 50. 0% ( 8/16 ), 18. 8%(3/16), 31.3 % (5/16)in the BCR/ABL negative group. The genotypes of -819 and -592 sites showed no statistical differences between the two groups ( all P ＞ 0. 05 ). Conclusion The population with - 819TT and - 592AA genotype of IL-10 gene shows susceptibility to ALL.     

IL-10基因单核苷酸多态性与急性淋巴细胞白血病易感性的相关性研究

Objective To observe the relationship of IL-10 gene single nucleotide polymorphism and the susceptibility to ALL. Methods The bone marrow and peripheral blood samples from 115 ALL patients and 323 healthy controls were collected in Peking University First Hospital and Beijing Dao-pei Hospital from January 2007 to December 2009. The DNA were extracted from all samples. The primers of -819C/T and -592A/C in the promoter region of IL-10 gene were designed for the PCR. The restrictive fragment length polymorphism of IL-10 gene was analyzed by using restrictive enzyme Msl Ⅰ and HpyCH4 Ⅲ.Sequencing was done in part of these samples to confirm the results of PCR. The differences of genotypes and allele ratio of -819 and -592 sites were analyzed between the ALL patients and healthy controls. Real-time quantitative PCR was performed to detect the EB virus (EBV) infection and the expression of BCR/ABL fusion gene. The differences of genotypes and allele ratio of -819 and -592 sites were analyzed between the positive and negative group. Results The genotype ratios of -819CC, -819TT, - 819CT, -592AA,- 592CC and - 592AC were 14. 8% ( 17/115 ), 45.2% ( 52/115 ), 40. 0% ( 46/115 ), 43.5% ( 50/115 ),16. 5% ( 19/115 ), 40. 0% ( 46/115 ) in ALL patients, and were 9. 9% ( 32/323 ), 16. 4% ( 53/323 ),73.7% ( 238/323 ), 11.8% ( 38/323 ), 15.5% ( 50/323 ), 72. 8% ( 235/323 ) in the healthy controls,respectively. The genotypes of -819 and -592 sites had statistically significant differences between the two groups(x2 values were 46.000 and 54.550, all P ＜ 0. 05 ). The allele ratio of -819T and -592A were (65.2%, 150/230) and (63.5%, 146/230) in ALL patients, while they were 53.5% (344/646) and 48. 1% (311/646)in the healthy controls. There were statistically significant differences between the two groups (x2 values were 9. 877 and 15.986, all P ＜ 0. 05 ). The EBV DNA were detected in 42 ALL patients,among which 22 were positive and 20 were negative. The genotype ratios of -819CC, -819TT, -819CT,-592AA, - 592CC, - 592AC in EBV positive group were 9. 1% ( 2/22 ), 40. 9% ( 9/22 ), 50. 0%(11/22) ,31.8% ( 7/22 ), 13.6% ( 3/22 ), 54. 5% ( 12/22 ), while they were 35.0% ( 7/20 ), 45.0%(9/20) ,20. 0% (4/20) ,35.0% (7/20) ,45.0% (9/20) ,20. 0% (4/20) in the EBV negative group. The genotypes of -819 and -592 sites showed no statistical differences between the two groups( all P ＞ 0. 05 ).The BCR/ABL fusion gene were detected in 36 ALL patients, among which 20 were positive and 16 were negative. The genotype ratios of - 819CC, - 819TT, - 819CT, - 592AA, - 592CC, - 592AC in BCR/ABL positive group were 0% (0/20) ,45.0% (9/20) ,55.0% ( 11/20), 45. 0% (9/20) ,5.0% (1/20) ,50. 0%( 10/20), while they were 18. 8% ( 3/16 ), 50. 0% ( 8/16), 31.3% ( 5/16 ), 50. 0% ( 8/16 ), 18. 8%(3/16), 31.3 % (5/16)in the BCR/ABL negative group. The genotypes of -819 and -592 sites showed no statistical differences between the two groups ( all P ＞ 0. 05 ). Conclusion The population with - 819TT and - 592AA genotype of IL-10 gene shows susceptibility to ALL.     

IL-10-592位点基因多态性与儿童EV71脑炎易感性关系

目的研究白细胞介素10（IL-10）基因启动子区-592C/A（IL-10-592C/A）位点基因多态性与肠道病毒71（EV71）易感性的关系,探讨不同基因型对EV71感染患病风险的影响。方法运用多重高温连接酶检测反应技术,检测EV71感染病儿及对照儿童IL-10-592C/A位点的基因多态性。结果 EV71感染重症组病儿基因型AC＋AA、等位基因A频率的分布与轻症组病儿比较差异有显著性（χ2=9.071、18.143,P〈0.05）。结论 IL-10-592C/A位点等位基因A、基因型AC＋AA的病儿感染EV71后易发展为重症。IL-10-592C/A位点基因型CC和C等位基因为EV71感染后不易发展为重症的保护基因。     

载脂蛋白E基因多态性与血脂水平及高脂血症的相关性

目的:分析载脂蛋白E基因多态性、血脂水平与高脂血症的关系。方法:选择2005-06/2006-03武汉大学中南医院收治的高脂血症患者165例为高脂血症组,另外108例健康体检者为健康对照组。所有受试者均采集空腹静脉血,应用等位基因特异性多重聚合酶链反应技术进行载脂蛋白E基因多态性分析,同时测定所有样本血清中总胆固醇,三酰甘油,载脂蛋白AI,载脂蛋白B,高、低密度脂蛋白胆固醇,脂蛋白α和载脂蛋白E水平,并比较不同载脂蛋白E基因型和等位基因受试者血脂水平的差异。结果:273例受试者全部完成测试进入结果分析。①共检出载脂蛋白E的4种基因型,以E3/3频率最高。高脂血症组ApoEE3/3基因型频率明显低于健康对照组(66.1%,75.0%,P<0.05),载脂蛋白E3/4基因型频率明显高于健康对照组(16.4%,6.5%,P<0.05),载脂蛋白Eε4等位基因频率又明显多于健康对照组(12.3%,3.2%,P<0.05)。②高脂血症组总胆固醇、三酰甘油、低密度脂蛋白胆固醇、载脂蛋白E水平明显高于健康对照组(P<0.05),而高密度脂蛋白胆固醇,载脂蛋白AI明显低于正常对照组(P<0.05)。③高脂血症组中载脂蛋白Eε4携带者的总胆固醇、三酰甘油和低密度脂蛋白胆固醇水平明显高于ε2和ε3携带者;载脂蛋白Eε2携带者的总胆固醇、低密度脂蛋白胆固醇、脂蛋白α水平最低。载脂蛋白E水平顺序是E2/3>E3/3>E3/4。结论:载脂蛋白Eε4等位基因与高脂血症有关,载脂蛋白E基因多态性可能是高脂血症患者的遗传因素。     

慢性HBV感染者IL-10启动子592位点基因多态性与血清IL-10的表达分析

目的探讨慢性乙型肝炎患者IL-10-592各基因型与血清中IL-10表达水平的关系。方法以117例HBV感染者作为疾病组,81例体检健康者(仅抗HBc为阳性的既往感染者)作为对照组。用聚合酶链反应-限制性片段长度多态性(PCRRFLP)技术检测两组IL-10-592基因型,ELISA法检测两组血清IL-10的浓度。结果疾病组血清IL-10水平为348.28(231.9,411.76)pg/mL,与对照组的228.74(160.59,364.18)pg/mL比较,差异有统计学意义(H=14.49,P0.05)。患者IL-10-592 CC基因型血清IL-10水平为448.64(402.51,584.78)pg/mL,与AA基因型294.78(190.49,354.36)pg/mL和AC基因型297.01(205.99,385.33)pg/mL比较,差异均有统计学意义(H分别为37.87和30.92,P均0.05)。而AA基因型与AC基因型比较,差异无统计学意义(H=0.10,P0.05)。结论慢性乙肝患者IL-10启动子592位点的多态性影响血清IL-10的水平,CC基因型促进IL-10高表达,AA基因型引起IL-10低表达。     

HLA-DQ基因多态性与部分肿瘤的关联性分析

目的 通过检测部分肿瘤患者HLA-DQ座位的7个等位基因位点,探讨HLA-DQ基因多态性与人体部分肿瘤的关联性.方法 采用PCR-SSP(聚合酶链反应-序列特异性引物)技术,检测36例部分肿瘤患者的HLA-DQ基因位点7个,并以144例健康人作为对照.结果 实验组HLA-DQ9基因频率(29.2%)明显高于对照组(7.64%),RR(相对危险度)=5.04,P＜0.05(P=0.001),差异有统计学意义.实验组其他HLA-DQ座位基因频率与对照组比较差异无统计学意义.结论 HLA-DQ9可能为人体部分肿瘤的易感基因.     

青岛地区哮喘患者IL-6基因启动子-634C/G位点多态性研究

目的:了解白细胞介素-6(interleukin-6,IL-6)基因启动子区域单核苷酸多态位点-634C/G与青岛地区汉族人群过敏性哮喘的相关性.方法:采用聚合酶链反应-限制性片段长度多态性分析方法对青岛地区479例健康个体和481例过敏性哮喘患者IL-6基因启动子-634C/G多态性进行观察.结果:过敏性哮喘组与健康对照组CC、CG和GG基因型以及C和G等位基因频率分布均无统计学差异,携带GG、CG、CC基因型个体哮喘患病风险依次递增.结论:IL-6基因启动子-634C/G位点多态性与青岛地区人群过敏性哮喘发生无相关性,但携带CC等位基因型的个体过敏性哮喘的发病风险可能增加.     

沈阳地区人群TCF7L2基因rs7903146-T/C多态性与2型糖尿病的相关性

目的 探讨沈阳地区汉族人群TCF7L2基因rs7903146多态性与2型糖尿病的相关性.方法 采用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP),对203例正常个体和202例2型糖尿病患者TCF7L2基因rs7903146多态位点进行检测.结果 rs7903146的等位基因T在对照组与病例组的频率分别为2.96％和7.18％,两者之间差异有统计学意义(P＜0.05).结论 沈阳地区汉族人群TCF7L2基因rs7903146位点的多态性与2型糖尿病可能具有相关性.     

IL-13及IL-4Rα基因多态性与β-内酰胺类抗生素过敏的关联性分析

目的探讨IL-13、IL-4Rα基因多态性与中国西北地区汉族人群β-内酰胺类抗生素过敏易感性的关联性。方法以β-内酰胺类抗生素过敏者为研究对象,对β-内酰胺类抗生素过敏病例组64例及对照组30例进行病例对照研究,采用Sequenom MassARRAY?分子量阵列技术平台定制SNP芯片技术检测IL-13及IL-4Rα的4个单核苷酸多态性与中国西北地区汉族人群β-内酰胺类抗生素过敏的关联性。结果 IL-13rs20541、IL-13rs1881457、IL-13rs1800925及IL-4Rαrs1801275基因多态性与β-内酰胺类抗生素过敏无显著相关性(P=0.4、0.074、0.074、0.447)。进行性别分层后其结果比较差异仍无统计学意义(P0.05)。IL-13的CCT及CAC单倍型在病例组和对照组中分布差异的P值分别为0.026和0.069,这两种单倍型在中国西北地区汉族β-内酰胺类抗生素过敏的相关性有待进一步研究。结论 IL-13及IL-4Rα基因多态性与中国西北地区汉族β-内酰胺类抗生素过敏无显著相关性。     

白细胞介素6基因多态性与冠心病易感性的Meta分析

目的对白细胞介素(IL)6基因多态性与亚洲人冠心病的关联性进行Meta分析。方法检索PubMed、Elsevier Science Direct、Cochrane Library、中国生物医学文献数据库、万方数据库和中国期刊全文数据库,收集探讨IL-6基因多态性与冠心病关联性的病例对照研究,剔除不符合要求的研究,应用RevMan4.2软件进行Meta分析。结果共11个研究(1821例病例和2453例对照)符合纳入标准。11个研究包括8个在中国,1个在韩国,1个在日本和1个在印度。IL-6基因三个多态性(-572C/G,-174G/C和-634C/G)适合进行Meta分析。Meta分析结果显示在亚洲人中-572C/G多态性和冠心病之间存在关联(GvsC,P=0.00;CG+GGvsCC,P<0.01;GGvsCC+CG,P=0.00;GGvsCC,P=0.00;CGvsCC,P<0.01)。对于-634C/G多态性,Meta分析也显示了类似的关联(GvsC,P=0.01;CG+GGvsCC,P=0.24;GGvsCC+CG,P=0.00;GGvsCC,P=0.00;CGvsCC,P=0.83)。但在亚洲人中-174G/C多态性和冠心病之间无关联(P>0.05)。结论亚洲人中IL-6基因-572C/G和-634C/G多态性与冠心病之间存在关联,而-174G/C多态性和冠心病之间无关联。     

血清IL-10水平及其基因-1082A/G位点单核苷酸多态性与胃窦癌恶病质的关系

目的探讨胃窦癌病人血清细胞因子白细胞介素10（IL-10）水平及-1082A/G位点单核苷酸多态性与恶病质发生的关系。方法采用放射免疫学方法检测150例胃窦癌病人及135例健康人（对照组）血清IL-10水平。用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测胃窦癌病人IL-10基因-1082A/G位点单核苷酸多态性。结果胃窦癌病人血清IL-10水平较对照组显著升高（Z=-11.862,P〈0.001）,胃窦癌Ⅲ、Ⅳ期病人血清IL-10水平较Ⅰ、Ⅱ期显著升高（Z=-10.028,P〈0.001）。胃窦癌恶病质病人血清IL-10水平较非恶病质病人显著升高（Z=-10.369,P〈0.001）。Logistic回归分析显示,IL-10为恶病质发生的高风险性因素（OR=1.559,95%CI=1.299-1.870,P〈0.001）。单核苷酸多态性分析显示,胃窦癌恶病质病人IL-10基因-1082G等位基因频率较非恶病质病人显著升高（χ2=3.953,P〈0.05）。胃窦癌恶病质病人IL-10基因-1082AG基因型频率较非恶病质病人显著升高（χ2=4.511,P〈0.05）。Logistic回归分析显示,校正肿瘤分期后,IL-10基因-1082AG基因型为胃窦癌恶病质的高风险性因素（OR=2.295,95%CI=1.029-5.117,P〈0.05）。结论血清IL-10水平高及IL-10基因-1082AG基因型与胃窦癌病人恶病质的发生具有相关性。     

IL-10基因1082A/G多态性与前列腺癌的发生及其进展的相关性分析

目的 调查湖北汉族人群中的IL-10启动子区1 082A/G位点单核苷酸基因多态性(SNP)分布情况,并探讨此基因多态性与前列腺癌(PC)及其进展程度之间的相关性.方法 收集湖北地区汉族98例PC患者(按UICC 2002 TNM分期标准,分为Ⅰ、Ⅱ、Ⅲ期3个亚组)和88例年龄相匹配的健康体检男性作为对照组.采用基因测...     

老年人颈动脉粥样硬化与MMP-9基因多态性探讨

目的：探讨老年人颈动脉粥样硬化与基质金属蛋白酶-9（MMP-9）基因多态性关系。方法：年龄大于65岁患者96例,检测其颈动脉,依检测结果分颈动脉正常组、颈动脉内膜增厚＋稳定斑块组、不稳定斑块组,并应用聚合酶链反应-限制性片段长度多态性分析法分析3组患者的MMP-9基因多态性。结果：颈动脉不稳定斑块组与正常组、内膜增厚＋不稳定斑块组两组比较,不稳定斑块组C/T＋T/T基因型分布、T基因频率差异有统计学意义（P〈0.05）。结论：老年人颈动脉不稳定斑块与MMP-9基因多态性关系密切。