PSCA rs2294008基因多态性与胃癌癌前病变的相关性研究

背景:胃癌在病因学上是幽门螺杆菌(Hp)感染、环境因素和宿主遗传因素之间相互作用的结果。既往研究显示前列腺干细胞抗原(PSCA)基因rs2294008位点多态性与非贲门部胃癌风险增加显著相关。目的:探讨PSCA rs2294008位点多态性与胃癌癌前病变的关系。方法:收集2009年11月—2015年11月青岛市市立医院398例胃癌癌前病变患者(肠上皮化生328例,上皮内瘤变70例),同期416例健康体检者作为对照组。采用PCR直接测序法检测PSCA rs2294008位点基因型,快速尿素酶试验检测Hp感染状态。结果:病例组PSCA rs2294008位点CC、CT、TT基因型分布与对照组相比差异有统计学意义(P=0.011),病例组TT基因型频率显著高于对照组(16.3%对9.4%,P=0.003)。与CC基因型携带者相比,TT基因型携带者胃癌癌前病变风险显著增加(OR=1.840,95%CI:1.174~2.886)。以Hp阴性且携带CC+CT基因型者为参照,单独携带TT基因型仅轻微增加胃癌癌前病变风险(OR=1.783,95%CI:0.900~3.530),而单独Hp感染(OR=2.389,95%CI:1.799~3.173)和Hp感染且携带TT基因型(OR=3.335,95%CI:1.935~5.749)可使发病风险显著增加,后者作用更为显著。结论:PSCA rs2294008位点多态性与胃癌癌前病变易感性显著相关,Hp感染可进一步增加TT基因型携带者的发病风险。     

前列腺干细胞抗原基因和磷脂酶CE1基因多态性与老年幽门螺旋杆菌感染胃溃疡的易感性及对临床预后的影响

目的探讨前列腺干细胞抗原基因(PSCA)和磷脂酶(PL)CE1基因多态性与老年幽门螺旋杆菌(Hp)感染胃溃疡的易感性及对临床预后的影响。方法采用病例-对照研究设计,选取130例胃溃疡并且Hp检查为阳性的老年患者作为病例组,另外按性别和年龄匹配的胃溃疡并且Hp检查为阴性的老年患者作为对照组。所有患者治疗前抽取外周静脉血并提取DNA,设计PSCA(rs2294008)和PLCE1(rs11599672)聚合酶链反应(PCR)引物进行PCR扩增,扩增产物采用DNA测序分析PSCA和PLCE1基因类型,采用Logistic回归计算校正相对危险度(OR)和95%置信区间(95%CI)评价PSCA和PLCE1基因多态性与老年Hp感染胃溃疡的易感性。结果 1两组年龄、性别、病程、病变部位差异均无统计学意义(P0.05);2与rs2294008基因型CC比较,基因型为CT、TT和CT/TT的患者Hp感染危险性降低(P0.01);3与PLCE1 rs11599672基因型AA比较,基因型为AC、CC和AC/CC的患者Hp感染危险性降低(P0.05);4不同PSCA多态位点rs2294008和LCEl多态位点rs11599672患者的Hp根除率和溃疡愈合率差异具有统计意义(P0.01)。结论 PSCA rs2294008基因型CC和PLCE1 rs11599672基因型AA可增加Hp感染胃溃疡易感性,并且显著降低临床预后。     

中国汉族人群前列腺干细胞抗原基因rs2294008多态性与胃癌关系的研究

背景:前列腺干细胞抗原(PSCA)基因多态性与日本人群弥漫型胃癌的发生相关。目的:探讨PSCA rs2294008多态性与中国汉族人群胃癌发病、胃癌临床病理特征和患者预后之间的关系。方法:以PCR-RFLP方法判定460例胃癌患者和549例健康对照者的PSCA rs2294008基因型,分析rs2294008基因型与胃癌发病风险和胃癌临床病理特征之间的关系并进行生存分析。结果:病例组与对照组的PSCA rs2294008基因型分布频率差异有统计学意义(P=0.018)。与CC基因型相比.携带T等位基因(TT/TC)显著增加胃癌的发病风险(OR=1.42,95% CI:1.10～1.82,P=0.006)。进一步按胃癌临床病理特征进行分层分析,携带T等位基因显著增加肠型(OR=1.55,95% CI:1.18～2.04,P=0.002)、低分化(OR=1.59,95% CI:1.19～2.13,P=0.002)、非贲门(OR=1.55,95% CI:1.17～2.04,P=0.002)胃癌的发病风险。Cox回归分析显示TT基因型(HR=2.12,95% CI:1.22～3.69,P=0.008)和肿瘤的TNM分期是影响胃癌患者预后的危险因素。结论:PSCA rs2294008 T等位基因与中国汉族人群的胃癌发病有关,可增加肠型、低分化、非贲门胃癌的发病风险,TT基冈型是影响胃癌患者预后的危险因素之一。     

PSCA基因多态性与青海地区藏族胃癌遗传易感性的初步研究

目的初步探讨前列腺干细胞抗原（PSCA基因）rs2976392位点多态性与青海藏族人群胃癌的相关性。方法对60例藏族胃癌患者（胃癌组）与60例查体健康者（对照组）采用dHPLC方法行PSCA基因rs2976392位点分型。结果胃癌组G/A基因型频率明显高于对照组,P〈0.05;两组A/A与G/G基因型频率比较无显著差异。结论 PSCA基因rs2976392位点多态性可能与青海地区藏族人群胃癌易感性相关;携带G/A型基因型者胃癌发生的危险性增加。     

PSCA rs2294008位点多态性与胃癌癌前病变关系的Meta分析

目的系统评价前列腺干细胞抗原(PSCA)rs2294008位点多态性与胃癌癌前病变是否存在相关性。方法应用计算机检索电子数据库Pub Med、Sino Med、CNKI、万方、VIP,按纳入标准搜索含有研究PSCA rs2294008多态性与胃癌癌前病变相关性的文章,并对所纳入文献进行Meta分析。结果共5篇文章纳入研究,病例组2 310例,对照组3 240例,研究表明,PSCA ra2294008等位基因模型、加性模型、共显性模型、显性模型与胃癌癌前病变的易感性有关,差异有统计学意义(T vs C:OR=1.18,95%CI:1.09~1.28,P0.0001;TT vs CC:OR=1.46,95%CI:1.08~1.97,P=0.01;CT vs CC:OR=1.25,95%CI:1.09~1.42,P=0.0009;CT+TT vs CC:OR=1.31,95%CI:1.16~1.49,P0.0001),隐性模型与胃癌癌前病变的易感性有关,但差异无统计学意义(TT vs CT+CC:OR=1.24,95%CI:0.93~1.66,P=0.15)。PSCA突变等位基因T增加了萎缩性胃炎的易感性,差异有统计学意义(T vs C:OR=1.24,95%CI:1.12~1.38,I2=24,P0.0001;TT vs CC:OR=1.60,95%CI:1.28~2.01,I2=3,P0.0001;CT vs CC:OR=1.42,95%CI:1.17~1.72,I~2=0,P=0.0004;CT+TT vs CC:OR=1.47,95%CI:1.22~1.77,I~2=0,P0.0001;TT vs CC:OR=1.24,95%CI:1.04~1.47,I2=47,P=0.02)。结论 PSCA rs2294008位点多态性与胃癌癌前病变有相关性。     

PPARγ基因外显子区多态性与江苏省汉族人群2型糖尿病遗传易感性

目的 探讨江苏省汉族人群PPARγ基因外显子区两个单核甘酸多态性(rs1801282,rs3856806)与2型糖尿病(T2DM)的关系.方法 采用病例对照研究选取新发T2DM 296例,年龄、性别频数匹配的健康对照477名,用PCR-RFLP方法进行两位点多态性检测.结果 PPARγ基因rs3856806位点多态性在病例组与对照组的分布差异有统计学意义(P＜0.05).与携带CC型相比较,携带CT/TT型者患T2DM风险降低.分层分析发现在女性、>50岁、高血压或体重正常群体中,携带CT/TT型者较CC型者患T2DM风险降低[OR值分别为0.33 (95%CI: 0.14,0.76),0.45 (95%CI: 0.23,0.88)、0.59 (95%CI: 0.36,0.95),0.34 (95%CI: 0.13,0.94)].rs1801282位点多态性在病例组和对照组中的分布差异无统计学意义(P＞0.05),但分层分析发现,携带CG(Pro/Ala)型肥胖者较CC型者患T2DM发病风险降低[OR(95%CI)=0.30(0.09,0.90)].结论 PPARγ基因多态性改变可能与江苏汉族人群T2DM遗传易感性有关.     

CD4 C868T单核苷酸多态性与广西人群HIV-Ⅰ型易感性的关系

目的分析CD4 C868T单核苷酸多态性与广西人群对HIV-Ⅰ易感性的相关性。方法选取101例广西HIV-Ⅰ型感染者(HIV-Ⅰ感染组)和102例同期同地区的健康体检者(对照组),采用聚合酶链反应(PCR)及DNA测序法,检测CD4基因C868T位点(rs28919570C/T)多态性,对rs28919570C/T基因多态性和广西人群对HIV-Ⅰ的易感性进行相关性分析。以上统计均采用SPSS 16.0软件进行分析。结果 rs28919570 C/T位点CC、CT、TT三种基因型在广西人群HIV-Ⅰ感染组和对照组中分布频率的差异无统计学意义(P0.05)。与CC基因型相比,CT及TT基因型和HIV-Ⅰ感染风险均无相关性(P0.05),且尚未发现rs28919570 C/T位点多态性与广西HIV-Ⅰ感染者性别差异有关。结论尚未发现rs28919570 C/T位点基因多态性与广西人群HIV-Ⅰ感染风险具有相关性。     

hTERT基因多态性与胃癌易感性的研究

人端粒酶逆转录酶(hTERT)作为端粒酶的关键酶参与了包括胃癌在内的多种肿瘤的发生和发展,有研究发现该基因的多个单核苷酸多态性(SNP)位点与多种恶性肿瘤具有不同程度的相关性。目的:探讨hTERT基因rs2853676和rs2853677位点SNP与胃癌遗传易感性的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法检测297例胃癌、105例萎缩性胃炎和402例对照组患者rs2853676和rs2853677位点的基因多态性,采用病理学检查和~(13)C-尿素呼气试验检测幽门螺杆菌(Hp)感染。结果:胃癌组rs2853676位点AA基因型频率显著高于对照组(15.2%对6.5%,P=0.01),AA基因型携带者患胃癌的风险增加2.47倍(95%CI:1.46~4.16)。三组rs2853677位点CC、TC、TT基因型频率差异无统计学意义。与对照组相比,萎缩性胃炎组和胃癌组Hp感染率显著升高(64.8%、56.9%对40.3%,P均0.01),OR值分别为2.73(95%CI:1.74~4.26)、1.96(95%CI:1.44~2.67)。Logistic回归分析发现,Hp感染与基因突变无明显交互作用。结论:hTERT基因rs2853676基因多态性与胃癌遗传易感性有关,其增加胃癌的风险与Hp感染可能无关。     

X射线修复交叉互补基因3多态性与膀胱癌易感性的关系

目的 探讨X射线修复交叉互补基因3(XRCC3)rs861539(C>T)多态性与膀胱癌易感性的关系。方法用聚合酶链反应-限制性片段长度多态性方法检测201例膀胱癌患者(病例组)及200例年龄、性别相匹配的健康人(对照组)XRCC3 rs861539(C>T)的基因型,比较各基因型与膀胱癌发病风险以及膀胱癌病理分期、分级的关系,同时分层分析其与吸烟的关系。结果 病例组XRCC3 rs861539位点CC、CT、TT 3种基因型分布频率分别为85.6%、13.9%、0.5%,对照组分别为93%、6.5%、0.5%,两组基因型频率分布差异有统计学意义(P<0.05)。与基因型CC相比,携带突变等位基因T的基因型(CT+TT)发生膀胱癌的风险增加3.077倍(OR 95%CI:1.452~6.882,P<0.05);XRCC3 rs861539基因型在吸烟及膀胱癌病理分期、分级之间的分布差异无统计学意义(P均>0.05)。结论 XRCC3 rs861539多态性可能增加膀胱癌的发病风险。     

氯离子通道-6基因位点rs3737964单核苷酸多态性与冠心病的关系

目的:探讨氯离子通道-6基因位点rs3737964单核苷酸多态性与冠心病发生的关系。方法:本研究收集冠心病患者1 193例(冠心病组)和非冠心病1 200例(对照组)。采用修订后的Inter-hearnt调查表进行流行病学调查,应用实时荧光定量多聚酶链反应技术之TaqMan探针法检测所有研究对象氯离子通道-6基因rs3737964位点多态性。结果:研究对象中氯离子通道-6基因多态性位点rs3737964的T和C等位基因的频率分别是10.4%和89.6%,各基因型分布符合Hardy-Weinberg平衡定律(P=0.178)。rs3737964位点基因型TT频率分布在冠心病组(2.3%)明显高于对照组(1.0%),与基因型为CC者相比,基因型为TT者其患冠心病的危险性增加(OR=2.318,95%CI=1.168~4.063,P=0.016 3),调整混杂因素后差异仍有统计学意义(OR=2.925,95%CI=1.287~6.65,P=0.010 4)。分层分析结果显示:rs3737964位点的TT基因型在60岁以上人群中患冠心病的危险性明显增加(调整混杂因素后OR=3.597,95%CI=1.191~10.858,P=0.023 2)。在男性人群中TT型基因型患冠心病的危险性明显增加(OR=3.669,95%CI=1.401~9.608,P=0.008 1)。在吸烟的人群中TT基因型者患冠心病的危险性明显增加,调整混杂因素后差异仍有统计学意义(OR=3.187,95%CI=1.038~9.787,P=0.042 9)。结论:氯离子通道-6基因位点rs3737964多态性可能是罹患冠心病的遗传易感性基因之一,60岁、吸烟及男性人群中TT基因型者更易患冠心病。     

Association of CD14/-260 polymorphism with gastric cancer risk in Highland Tibetans

AIM:To investigate the relationship between CD14-260and-651 polymorphisms and the risk of developing gastric cancer.METHODS:DNA was extracted from peripheral blood samples obtained from 225 Tibetans with gastric cancer and 237 healthy Tibetans,and analyzed using the polymerase chain reaction/ligase detection(PCR/LDR)method to determine the genotypes at-260 and-651loci of the CD14 promoter.The allele frequencies,genotype frequencies,and haplotypes were analyzed for their association with gastric cancer risk using online SHEsis software.The luciferase reporter assay and point mutation analysis were used to construct in vitro plasmids expressing a C/T homozygote at the-260 lo-cus of the CD14 promoter.RESULTS:The frequencies of CC,CT and TT genotypes in the CD14-260 C/T locus in gastric cancer patients were 19.1%,38.7%and 42.2%,respectively,whereas they were 33.3%,32.5%and 34.2%,respectively,in healthy control subjects.CT genotype carriers were more frequently found among gastric cancer patients than healthy controls(OR=2.076;95%CI:1.282-3.360).Also,TT genotype carriers were more frequently found among gastric cancer patients(OR=2.155;95%CI:1.340-3.466).Compared to the C allele of CD14/-260,the T allele was associated with an increased risk for gastric cancer(OR=1.574;95%CI:1.121-2.045).Furthermore,the frequencies of CC,CT and TT in the CD14-651 C/T locus in gastric cancer patients were 64.4%,29.3%and 6.2%,respectively,while they were 56.5%,35.0%and 8.4%,respectively,in the healthy control subjects(P>0.05).Data obtained using the luciferase reporter assay showed that the p260T homozygote was associated with greater CD14 promoter activity(P<0.01).CONCLUSION:CD14/-260 polymorphism is associated with gastric cancer risk in Highland Tibetans and affects CD14 promoter activity,thereby regulating CD14expression.     

血管内皮生长因子-460C/T基因多态性与非贲门胃癌的关系

目的探讨VEGF-460C/T基因多态性与非贲门胃癌的关系。方法研究人群为胃癌(包括胃体癌及胃窦癌)患者159例,对照组为非溃疡性消化不良患者162例。应用聚合酶链反应和限制性片段长度多态性(PCR-RFLP)技术对VEGF-460C/T基因位点多态性进行基因分型,比较病例组与对照组基因型分布及其与临床病理特征的关系。结果 VEGF-460位点CC、CT和TT基因型在病例组中的频率分别为3.2%、35.2%、61.6%,在对照组中的频率分别为8.0%、48.2%、43.8%,基因型在两组分布显著不同(χ2=11.454,P=0.003)。TT纯合子在胃癌组分布较对照组明显增高,TT型患胃癌风险是CC型的3.58倍[OR=0.279,95%可信区间(CI):0.095～0.817],是CT型的1.9倍[OR=0.52,95%CI:0.329～0.824]。进一步分析表明携带T等位基因患胃癌的相对危险度是携带C等位基因的1.8倍[OR=0.55,95%CI:0.387～0.792]。基因型分布与临床分期和病理分级未见显著性差异。结论 VEGF-460C/T基因多态性T等位基因可作为胃癌易感性的预测指标,但不能作为预后预测指标。     

The PSCA polymorphisms derived from genome-wide association study are associated with risk of gastric cancer: a meta-analysis

Purpose

Prostate stem cell antigen (PSCA) is a glycosylphosphatidylinositol-anchored 123-aa protein related to the cell-proliferation inhibition and/or cell-death induction activity. Many studies had reported the role of PSCA rs2294008 C?>?T and rs2976392 G?>?A polymorphisms on gastric cancer risk.

Methods

To investigate a more precise estimation of the relationships, we performed a meta-analysis on 9 case–control studies included 10,746 cases and 9,158 controls. Odds ratios (ORs) and 95?% confidence intervals (CIs) were used to assess the strength of the association.

Results

For PSCA rs2294008 C?>?T polymorphism, there was a significantly increased risk of gastric cancer in all genetic models (TT/TC vs. CC: OR?=?1.61, 95?% CI?=?1.35–1.91; TT vs. TC/CC: OR?=?1.33, 95?% CI?=?1.24–1.42). Similar results were also observed for PSCA rs2976392 G?>?A polymorphism (AA/AG vs. GG: OR?=?1.69, 95?% CI?=?1.24–2.31; AA vs. AG/GG: OR?=?1.36, 95?% CI?=?1.24–1.50). In the stratified analysis by ethnicity of rs2294008, an increased gastric cancer risk was found in both Asians (TT vs. TC/CC: OR?=?1.31, 95?% CI?=?1.22–1.42) and Europeans (TT/TC vs. CC: OR?=?1.42, 95?% CI?=?1.18–1.71). Furthermore, when stratified by clinicopathologic characteristics of tumor location and histology, a higher risk on non-cardia compared with cardia gastric cancer (TT vs. TC/CC: OR?=?1.43, 95?% CI?=?1.12–1.83) as same as diffused compared with intestinal gastric cancer (TT vs. TC/CC: OR?=?1.29, 95?% CI?=?1.13–1.49) was observed.

Conclusion

These findings supported that PSCA rs2294008 C?>?T and rs2976392 G?>?A polymorphisms may contribute to the susceptibility to gastric cancer, particular in non-cardia or diffused gastric cancer.     

TCF7L2 rs7903146 polymorphism is associated with gastric cancer: a case-control study in the Venezuelan population

AIM: To explore the association between TCF7L2 rs12255372 and rs7903146 single nucleotide polymorphisms(SNPs) and gastric cancer risk in Venezuelan patients.METHODS: We performed a case-control study including 122 paraffin-embedded archived intestinaltype gastric cancer samples and 129 biopsies obtained by superior endoscopy from chronic gastritis patients. Gastric cancer samples were classified according the degree of carcinoma differentiation. Genomic DNA was extracted from tissues, and the two SNPs of TCF7L2 gene(rs12255372 and rs7903146) were genotyped by polymerase chain reaction-restriction fragment length polymorphism reactions. Multiple regression analysis with adjustments for age and gender were performed and best-fitting models of inheritance were determined.RESULTS: After adjusting for age and sex the TCF7L2 rs7903146 TT genotype was associated with gastric cancer risk under the recessive genetic model(OR = 3.11, 95%CI: 1.22-7.92, P = 0.017). We further investigated the distribution of rs12255372 and rs7903146 genotypes according gastric cancer stratified by degree of differentiation, and we observed that carriers of rs7903146 T allele(CT + TT vs CC) had a significantly increased risk of moderate/well differentiated gastric cancer(dominant model, OR = 2.55, 95%CI: 1.35-4.80, P = 0.004), whereas the rs7903146 TT genotype was associated with poorly differentiated gastric cancer in the recessive model(OR = 3.65, 95%CI: 1.25-10.62, P = 0.018). We did not find association between rs12255372 SNP and the susceptibility of developing gastric cancer. CONCLUSION: TCF7L2 rs7903146 polymorphism is associated with gastric cancer risk in the Venezuelan population, and could be related to determine the degree of differentiation of tumor cells.     

Association of polymorphism of PTPN 11 encoding SHP-2 with gastric atrophy but not gastric cancer in Helicobacter pylori seropositive Chinese population

ABSTRACT: BACKGROUND: The interaction between Src homology 2 domain-containing protein tyrosine phosphatase (SHP-2) of gastric epithelial cells and cagA from H.pylori plays a crucial role in developments of gastric atrophy and gastric cancer. This study aimed to investigate the association of haplotype tagging SNPs (htSNPs) in the PTPN11 gene encoding SHP-2 with gastric atrophy and gastric cancer in Chinese population. METHODS: The subjects comprised 414 patients with gastric cancer, 109 individuals with gastric atrophy and 923 healthy controls. Blood was collected from October 2008 to October 2010. Five htSNPs rs2301756, rs12423190, rs12229892, rs7958372 and rs4767860 from the PTPN11 gene were selected and genotyped by Taqman assay. Serum Ig G antibodies to H.pylori were detected by ELISA. Gastric atrophy was screened by the levels of serum pepsinogenIandII,and confirmed by endoscopy and histopatholgical examinations. Odds ratio (ORs) and 95% confidence intervals (CIs) were calculated by a multivariate logistic regression. RESULTS: Among H.pylori seropositive subjects, age and gender-adjusted OR of gastric atrophy was 2.47 (95%CI 1.13-4.55, P = 0.02) for CC genotype compared with CT/TT genotypes, suggesting a recessive model of genetic risk for rs12423190. The prevalence of H.pylori seropositivity were significantly higher in groups of gastric cancer and gastric atrophy compared to the control group (70.3% vs.75.2% vs.49.7%, P <0.001). However, the distributions of genotypes and haplotypes in patients with gastric cancer were not significantly different from healthy controls. CONCLUSIONS: Our study provides the first evidence that rs12423190 polymorphism of the PTPN11 gene is significantly associated with an increased risk of gastric atrophy in H.pylori infected Chinese Han population, suggesting that rs12423190 polymorphism could be used as a useful marker of genetic susceptibility to gastric atrophy among H.pylori infected subjects. The biological roles of this polymorphism require a further investigation.     

Association of XPG rs2094258 polymorphism with gastric cancer prognosis

BACKGROUND The xeroderma pigmentosum group G(XPG)gene at chromosome 13q33 consists of 15 exons,which may be related to the occurrence and development of gastric cancer(GC).AIM To examine the association of several common single nucleotide polymorphisms(SNPs)of the XPG gene with GC risk and survival.METHODS Five SNPs of XPG(rs2094258,rs751402,rs873601,rs2296147,and rs1047768)were genotyped by PCR restriction fragment length polymorphism in 956 histologically confirmed GC cases and 1012 controls in North China.GC patients were followed for survival status and,if deceased,cause of death.Logistic regression and Cox regression were used for analysing associations of XPG SNPs with risk of GC and prognosis,respectively.For rs2094258,heterozygous model(CT vs CC),homozygous model(TT vs CC),recessive model(TT vs CT+CC),and dominant model(TT+CT vs CC)were analyzed.RESULTS None of the examined loci were statistically associated with GC risk,although rs2296147 was marginally associated with GC risk(P=0.050).GC patients with the rs2094258 CT+CC genotype showed worse survival than those with the TT genotype(log-rank test,P=0.028),and patients with the CC genotype had a tendency of unfavourable prognosis compared with those with the TT+CT genotype(log-rank test,P=0.039).The increase in C alleles of rs2094258[hazard ratio(HR)=1.19,95%confidence interval(CI):1.02-1.45,P=0.037]were associated with the long-term survival of GC cases.Other risk factors for survival included tumor differentiation(HR=4.51,95%CI:1.99-8.23,P<0.001),lymphovascular invasion(HR=1.97,95%CI:1.44-3.01,P<0.001),and use of chemotherapy(HR=0.81,95%CI:0.63-0.98,P=0.041).CONCLUSION The XPG rs2094258 polymorphism may be associated with overall survival in GC patients.     

恩施土家族人群eNOS rs1799983基因多态性和肥胖在原发性高血压中的交互作用

目的 探讨恩施土家族人群内皮型一氧化氮合酶(eNOS)rs1799983多态性与原发性高血压(EH)关联性及其与肥胖交互作用。方法 采用多聚酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析127例EH患者和127名正常对照eNOS rs1799983基因型。非条件Logistic分析各基因型与发病中易感性关系以及与肥胖的交互作用。结果 携带C(CC/CT)基因个体患病风险较非C基因携带者(TT)风险明显增加1.35倍(OR=1.35,95%CI: 1.22,2.56,P<0.01;校正OR=1.61,95%CI: 1.21,3.01,P<0.01);非条件Logistic分析表明携带CC/CT基因型肥胖个体EH罹患风险是携带TT基因非肥胖个体的3.39倍(OR=3.39,95%CI:2.66,5.36,P=0.000)(RERI=1.94,95%CI:1.41,2.77;API=0.59,95%CI:0.33,0.84;S=1.46,95%CI:1.37,2.66)。结论 eNOS rs1799983多态性增加恩施土家族个体原发性高血压罹患风险,且与肥胖存在原发性高血压发病中存在协同效应。     

汉族人群乙型肝炎病毒感染者外周血IL-28B基因多态性研究*

目的 分析乙型肝炎病毒（HBV）感染者外周血IL-28B基因型和等位基因频率分布,并探讨其与疾病病程和进展的关系。方法 本研究纳入江苏籍汉族健康人群145例和453例HBV感染者,后者包括无症状HBV携带者（ASC）45例,慢性乙型肝炎患者（CHB）181例,肝硬化（LC）患者69例,肝细胞癌（HCC）患者79例,乙型肝炎肝衰竭（LF）患者79例,采用PCR法和直接测序法检测外周血IL-28B基因rs12979860和rs8099917多态性位点。采用Pearson x²检验对IL-28B rs8099917与rs12979860位点进行Hardy-Weinberg平衡检验,计量资料以（x±s）表示,计数资料采用例数表示。应用SPSS 17.0软件进行方差分析、x²检验和Binary Logistic回归分析。结果 IL-28B基因rs12979860位点有CC、CT和TT 3个基因型,LF患者CC型和C等位基因频率分别为96.2%和98.1%,显著高于健康人群的87.6%和93.1%（OR=0.257,95%CI=0.068~0.973,P=0.045;OR=0.255,95%CI=0.070~0.928,P=0.038）;IL-28B基因rs8099917位点有TT 、TG和GG 3个基因型,LC患者TT型和T等位基因频率分别为92.8%和96.4%,显著高于健康人群的86.2%和92.4%（OR=0.288,95%CI=0.087~0.948,P=0.041;OR=0.299,95%CI=0.096~0.926,P=0.036）。结论 江苏地区汉族人群IL-28B基因多态性与HBV感染后不同疾病表型相关,IL-28B基因rs12979860的C等位基因和IL-28B基因rs8099917的T等位基因可能是HBV感染后病情进展的影响因素。     

Relationship between CD14-159C/T gene polymorphism and acute brucellosis risk

Objective:To investigate the association between the cluster of differentiation 14(CD14)-I59C/T(rs2569190) gene polymorphism and susceptibility to acute brucellosis in an Iranian population.Methods:The study included 153 Iranian patients with active brucellosis and 128 healthy individuals as the control group.Genotyping of the CD 14 variant was performed using an amplification refractory mutation system-polymerase chain reaction method.Results:The prevalence of CD14-159 TT and CT genotypes were associated with increased risk of brucellosis[odds ratio(OR)=l.993.95%confidence interval(95%CD=1.07-3.71.P=0.03 for CT:OR=3.869.95%CI= 1.91-7.84,P=0.01 for TT genotype.Additionally,the minor allele(T) was significantly more frequently present in brucellosis patients than in controls(61%vs.45%.respectively),and was a risk factor for brucellosis(OR=3.058.95%CI= 1.507-6.315.P=0.01).Condusions:The findings provid suggestive evidence of association of the CDI4-159C/T gene polymorphism with susceptibility to acute brucellosis in the Iranian population.