Association of IPS1 polymorphisms with peginterferon efficacy in chronic hepatitis B with HBeAg-positive in the Chinese population

AimsTo investigate whether IPS1 polymorphisms affect peginterferon alpha (PEG-IFN) efficacy in chronic hepatitis B (CHB) patients using a tag- single nucleotide polymorphism (SNP) approach.MethodsA total of 212 hepatitis B e antigen (HBeAg)-positive patients treated with a 48 weeks of PEG-IFN monotherapy were enrolled initially and 127 patients were followed for 48 weeks posttreatment. Genotype analysis was performed for 10 tag-SNPs in IPS1.ResultsThe end of virological response (EVR) rate was 45.8% (97/212) and the sustained virological response (SVR) rate was 45.7% (58/127). Meanwhile, 35.4% (75/212) achieved HBeAg seroconversion at the end of treatment. In a multivariate analysis, the rs2464 CC genotype was independently associated with EVR (OR 2.21, 95% CI 1.23–3.98, P = 0.008) and SVR (OR 2.34, 95% CI 1.05–5.20, P = 0.037) after adjustment for sex, age, HBV genotype, baseline levels of HBV DNA and ALT. Meanwhile, rs2464 CC genotype were also independently associated with decline of HBsAg levels below 1500 IU/mL at 12 weeks of treatment (OR 2.52, 95% CI 1.01–6.29, P = 0.047). Furthermore, three SNPs were found to be independently associated with HBeAg seroconversion at the end of treatment. (1) The rs2326369 CC genotype was independently associated with no HBeAg seroconversion (OR 0.52, 95% CI 0.29–0.95, P = 0.034); (2) The rs6515831 TT genotype was independently associated with HBeAg seroconversion (OR 2.11, 95% CI 1.14–3.90, P = 0.017); (3) The rs2464 CC genotype was independently associated with HBeAg seroconversion (OR 2.36, 95% CI 1.26–4.42, P = 0.007).ConclusionsPolymorphisms in IPS1 are independently associated with treatment response to PEG-IFN among Chinese HBeAg-positive CHB patients.     

透明短帽辅助初级操作者单人结肠镜检查的作用

目的：探讨透明短帽辅助初级操作者单人结肠镜检查的作用。方法门诊接受结肠镜检查1200例患者,按照入组顺序分为奇数组及偶数组,奇数组采用常规结肠镜检查法,偶数组采用透明短帽辅助结肠镜检查法。比较初级操作者采用两种方法检查的成功率、平均到达回盲部时间、进入回肠末端成功率及时间、息肉检出率、平均疼痛评分及并发症情况。结果透明短帽辅助结肠镜检查法操作成功率、平均到达回盲部时间、进入回肠末端成功率及时间、平均疼痛评分、息肉检出率均优于常规结肠镜检查法,比较均有统计学意义,结果分别为（94% v 89%,P=0.00）、（8分 v 12分,P=0.00）、（87% v 81%,P=0.00）、（24s v 31s,P=0.02）、（4.2 v 4.9,P=0.01）、（27%v 21%,P=0.01）,两组均未出现严重并发症。结论对初级操作者来说,透明短帽辅助结肠镜操作法更加简单、有效,对患者造成痛苦更小。     

白介素-12B基因多态性与原因不明复发性流产的易感性研究

目的:探讨IL-12B基因启动子区多态性与山东潍坊地区汉族育龄期妇女原因不明复发性流产(URSA)的相关性。方法:采用直接测序法检测83例原因不明复发性流产孕妇和90例正常孕妇IL-12B基因的启动子区的多态位点,并分析IL-12B基因多态性与原因不明复发性流产的关系。结果:IL-12B的启动子区检测到2个单核苷酸多态性(SNPs)(-671G/T和-405G/T)。2个SNPs紧密连锁,多态性分布符合Hardy-Weinberg平衡。URSA组和对照组的基因型和等位基因频率分布比较,差异无统计学意义(P0.05)。单体型分析显示,-671T/-405G频率在URSA组和正常对照组分别为0.65和0.41,URSA组显著高于正常对照组,差异有统计学意义(P0.05)。结论:正常孕妇IL-12B基因启动子区存在多态性变异,其中-671G/T和-405G/T构成的单体型-671T/-405G可能与URSA的易感性有关。     

Association between Tourette Syndrome and the Dopamine D3 Receptor Gene Rs6280

Background:

Tourette syndrome (TS) is a complex, heterozygous genetic disorder. The number of molecular genetic studies have investigated several candidate genes, particularly those implicated in the dopamine system. The dopamine D3 receptor (DRD3) gene has been considered as a candidate gene in TS. There was not any report about the association study of TS and DRD3 gene in Han Chinese population. We combined a case–control genetic association analysis and nuclear pedigrees transmission disequilibrium test (TDT) analysis to investigate the association between DRD3 gene rs6280 single nucleotide polymorphisms (SNPs) and TS in a Han Chinese population.

Methods:

A total of 160 TS patients was diagnosed by the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. The DRD3 gene rs6280 SNPs were genotyped by TaqMan SNP genotyping assay technique in all subjects. We used a case–control genetic association analysis to compare the difference in genotype and allele frequencies between 160 TS patients and 90 healthy controls. At the same time, we used TDT analysis to identify the DRD3 gene rs6280 transmission disequilibrium among 101 nuclear pedigrees.

Results:

The genotype and allele frequency of DRD3 gene rs6280 SNPs had no statistical difference between control group (90) and TS group (160) (χ² = 3.647, P = 0.161; χ² = 0.643, P = 0.423) using Chi-squared test. At the basis of the 101 nuclear pedigrees, TDT analysis showed no transmission disequilibrium of DRD3 gene rs6280 SNPs (χ² = 0; P = 1).

Conclusions:

Our findings provide no evidence for an association between DRD3 gene rs6280 and TS in the Han Chinese population.     

DNA修复基因XRCC1多态性与颅底脑膜瘤易感性关联研究

目的探讨DNA修复基因XRCC1单核苷酸多态性(SNP)与颅底脑膜瘤易感性的关系。方法采用病例-对照研究方法,收集124例颅底脑膜瘤患者和218例健康对照,运用多重单碱基延伸SNP分型(Multiplex SNa Pshot)技术检测XRCC1基因rs1799782位点在脑膜瘤组和对照组中的分布情况。结果 XRCC1 rs1799782位点中CT基因型携带者患颅底脑膜瘤的风险降低(OR=0.606,95%CI:0.374~0.982,P=0.041)。在颅底脑膜瘤组中,≥50岁组相比50岁组的个体,其发病风险降低(OR=0.4160,95%CI=0.201~0.862)。XRCC1基因rs1799782多态性与颅底脑膜瘤的生长部位、瘤周水肿、骨质破坏及硬膜侵袭之间不存在关联性(P0.05)。结论 XRCC1基因rs1799782位点CT基因型携带者可降低颅底脑膜瘤发病风险,rs1799782多态位点可能与颅底脑膜瘤发病风险相关,相对低龄患者更容易发病,但仍需大样本量的颅底脑膜瘤流行病学研究加以证实。     

吸氧后99mTc-MIBISPECT显像对肺部肿瘤的鉴别诊断价值

目的探讨吸氧后99m Tc-MIBI SPECT显像对肺部肿瘤的鉴别诊断价值.方法对32例CT发现肺部肿瘤患者进行前瞻性研究.所有受检者于注射99mTc-MIBI前10 min开始经面罩高流量吸氧,于注射后20 min、150 min分别进行早期和延迟SPECT断层显像.对显像结果进行定性及半定量分析,并根据最终病理诊断结果,判定该显像方法对肺部肿瘤的鉴别诊断价值.结果 20例肺部恶性肿瘤,12例肺部良性肿瘤,99m Tc-MIBI SPECT显像对肺部肿瘤良恶性鉴别诊断灵敏度90.0%、特异性75.0%、准确性84.3%.肺部恶性肿瘤早期摄取比值(EUR)为(2.94±1.98),95%CI:1.79%~3.43%.肺部良性肿瘤为(1.41±0.71),95%CI:1.19%~1.84%,两者差异有统计学意义(t=-2.43,P=0.037).肺部恶性肿瘤延迟摄取比值(DUR)为(2.97±1.91),95%CI:1.98%~3.53%,肺部良性肿瘤为(1.57±0.81),95%CI:1.18%~2.10%,两者差异有统计学意义(t=-2.48,P=0.016).半定量ROC分析显示:以早期摄取比值≥1.55为界值.对应灵敏度90.0%,特异性75.0%.以延迟摄取比值≥1.60为界值,灵敏度90.0%,特异性75.0%.结论吸氧后99m Tc-MIBI SPECT显像对肺部肿瘤的良恶性鉴别具有较高的临床应用价值.     

糖皮质激素受体遗传多态性与2型糖尿病相关性研究

目的 探讨糖皮质激素受体(GR)单核苷酸多态性与2型糖尿病(T2MD)易感性及人体体型的相关性.方法 采用病例-对照研究设计,从解放军总医院健康体检中心的体检患者中,募集40例T2MD患者和127例对照.结合三种不同的SNP位点选择方法,采用上海天昊生物科技有限公司的iMLDRTM多重SNP分型技术对入选SNP位点进行基因分型.采用非条件Logistic回归,校正年龄、性别、吸烟、饮酒后,分析基因型与T2MD易感性的关系.得到的阳性位点,进一步采用协方差分析,校正年龄、性别、吸烟、饮酒后,评价其与体重指数(BMI)和腰臀比(WHR)的相关性.结果 共选取14个SNP位点,其中rs10052957突变型在病例组中频率为零,故未纳入统计分析.所有的13个SNP位点在病例和对照组中的基因分型均符合Hardy-Weinberg平衡.rs9324924 TT基因型(OR [95％CI]=3.12[1.06 ～9.17],P=0.039)和rs9324921 AA基因型(OR [95％CI]=14.92[1.39～160.60],P=0.026)发生T2DM的风险较野生型增高,且两基因型的BMI[P=0.023 (rs9324924);P=0.002(rs9324921)]、WHR[P=0.033 (rs9324924);P=0.003(rs9324921)]也较野生型明显增高.结论 在本研究中,GR基因rs9324924、rs9324921与T2DM易感性和体型有关,其中纯和突变型T2DM发病风险明显增加,且更具有肥胖倾向.     

ABCG1基因启动子区多态性与中国南方汉族人群冠心病多支血管病变的相关性

目的：探讨中国南方汉族人群三磷酸腺苷结合盒转运体G1（ ATP binding cassette transporter G1, ABCG1）基因启动子区单核苷酸多态性与冠心病（ coronary artery disease , CAD）的相关性。方法采用病例对照研究,采用单碱基引物延伸的多重PCR法检测482例冠状动脉造影证实的CAD患者和513例对照者的ABCG1基因启动子区域rs1378577位点A／C多态性,分析该位点多态性与中国南方汉族人群CAD易感性和病变血管数的关系。结果 rs1378577 A／C等位基因和基因型频率在CAD组和对照组之间的分布比较差异无统计学意义（ P＞0.05）;校正了性别、年龄、吸烟状况、高血压、高脂血症、糖尿病等危险因素后, rs1378577 A／C基因多态性与CAD无相关性（ P＞0.05）;rs1378577 A／C多态性在CAD单支病变和多支病变之间的分布比较差异无统计学意义（ P＞0.05）;逻辑回归分析显示,以AA vs AC＋CC分析时rs1378577 A／C多态性可能与冠状动脉病变血管数相关（OR 0.724,95％CI 0.526～0.995,P＝0.047）。结论 ABCG1基因启动子区rs1378577位点A／C多态性可能与中国南方汉族人群冠心病多支血管病变相关。     

单核苷酸多态性敏感分子开关在基因组单核苷酸多态性检测中的特异性分析

目的 探讨硫化修饰的碱基特异性引物与高保真DNA聚合酶所构成的对单核苷酸多态性敏感的分子开关系统在基因组单核苷酸多态性检测中的特异性。方法以人类基因组DNA为模板，采用3’未端配对及不配对的3’末端硫化修饰引物，进行不同保真度DNA聚合酶介导的引物延伸反应。结果Taq酶介导的碱基特异引物延伸反应扩增产物出现非特异性带，而单核苷酸多态性敏感分子开关介导的引物延伸反应未出现非特异性带。结论单核苷酸多态性敏感分子开关是一种特异性强，可靠性高的可用于基因组单核苷酸多态性分析的新方法，可在单碱基水平对遗传病相关基因进行特异性检测。     

带线锚钉固定与微型钛板固定在颈椎后路单开门椎管扩大成形术中的应用效果比较

目的：比较带线锚钉固定与微型钛板固定在颈椎后路单开门椎管扩大成形术中的应用效果。方法回顾性分析本院2010年1月~2012年6月因多节段脊髓型颈椎病分别采用颈后路单开门带线锚钉固定与颈后路单开门微型钛板固定治疗的35例病例,比较两组在手术时间、术中出血量、术后JOA评分、最窄椎管面积、并发症等方面的差异。结果带线锚钉组的手术时间及术中出血量与微型钛板组比较,差异有统计学意义（P<0.05）;术前及术后1周,带线锚钉组JOA评分与微型钛板组比较,差异无统计学意义（P>0.05）;术后两年,微型钛板组评分高于带线锚钉组,差异有统计学意义（P<0.05）;术前及术后1周,两组最窄椎管面积比较,差异无统计学意义（P>0.05）,术后两年,微型钛板组最窄椎管面积大于带线锚钉组,差异有统计学意义（P<0.05）;两组患者切口均为甲级愈合,未出现伤口感染、脑脊液漏等严重并发症。结论颈椎后路单开门椎管扩大成形术的两种固定方法均能增加脊髓受压患者病变部位的椎管面积,有效改善患者神经功能,微型钛板固定虽有手术时间长、出血量大等缺点,但能有效防止再关门现象,具有更好的远期疗效。