DICER基因多态性与食管癌遗传易感性研究

目的：研究中国汉族人DICER基因rs3742330A〉G多态性与食管癌易感性的关系。方法：本研究以病例一对照研究为基础,收集2008—10—01—20091130镇江第一人民医院和江苏大学附属人民医院380例食管癌患者和380例非肿瘤患者,采用质谱（MALDI—TOFMS）技术对DICER基因多态性位点rs3742330A〉G进行分型,计算不同基因型与食管癌的发生风险及95％CI。结果：DICER多态性位点rs3742330A〉G基因型AA、AG和GG在食管癌组频率分别为33．9％、51．6％和14．5％,在非肿瘤对照组的频率分别为38．1％、48．4％和13．5％。Logistic回归分析结果表明,相对于AA基因型的个体,AG基因型与食管癌的发病风险无明显相关,OR=1．19,95％CI=0．87～1．62;与AA＋AG基因型相比较,GG基因型与食管癌的发病风险无明显相关,OR=1．09,95％CI=0．72～1．65。结论：DICER基因rs3742330A〉G多态性可能不是食管癌发生的危险因素。     

miRNA生物合成相关基因的遗传变异与胃癌患者生存的关系

目的研究miRNA生物合成相关基因的遗传变异与胃癌患者生存的关系。方法 96例接受奥沙利铂联合氟尿嘧啶类药物术后辅助化疗的Ⅰ~Ⅲ期胃癌患者,分析DICER rs13078,DICER rs3742330,RAN rs14035,XPO5 rs2257082,XPO5 rs11077遗传变异与患者无病生存期(DFS)和总生存期(OS)的相关性。结果全组患者2年DFS为60.5%,3年OS为73.2%。淋巴结转移患者的3年OS显著低于无淋巴结转移患者,分别为63.7%和88.6%(P=0.017)。临床分期与3年OS显著相关,Ⅰ、Ⅱ和Ⅲ期患者分别为100.0%、87.9%和56.9%(P=0.020)。携带XPO5 rs11077 AC基因型患者的3年OS显著低于AA基因型患者,分别为64.8%和74.7%(P=0.029)。多因素预后分析显示,淋巴结状态及XPO5 rs11077遗传变异为独立预后因素。结论 XPO5 rs11077遗传变异可能与胃癌患者预后相关。     

TNF-α 基因308 位点单核苷酸多态性与原发性肺癌相关性研究*

目的:肿瘤坏死因子- α（tumor necrosis factor- α ,TNF-α）基因启动子单核苷酸多态性与某些炎性疾病、肿瘤的发生有关。本研究就TNF-α - 308G/A 位点基因多态性与中国人群原发性肺癌易感性进行探讨。方法:应用高通量TaqMan-MGB 探针技术对TNF-α - 308G/A 位点,即rs 1800629 位点进行基因分型,分析比较447 例健康对照者和250 例原发性肺癌患者的基因类型。采用SPSS18.0 软件对数据资料进行统计分析。结果:TNF-α - 308G/A 位点GG基因型在病例组和对照组中的频率分别为73.2%和90.8% 。A/G 基因型在病例组和对照组中频率分别为26.8% 和8.7% 。基因型A/G+AA频率分别为26.8% 和9.2% ,该位点多态性在病例组和对照组中的分布频率差异具有统计学意义（P < 0.05）。 此外,A/G 基因型在男性、吸烟、小细胞肺癌或非小细胞肺癌患者相对于GG型均为危险因素,但在女性中无统计学意义（P > 0.05）。 结论:TNF-α - 308G/A 位点基因多态性与中国原发性肺癌发病易感性显著相关。      

甘肃汉族女性XPF基因多态性与散发乳腺癌易感性的相关性分析

[目的]探讨着色性干皮病基因组F(XPF)rs3136189及rs1800067单核苷酸多态性(SNPs)与甘肃汉族妇女散发乳腺癌的关系。[方法 ]采用以自然人群为基础的病例对照设计,对101例乳腺癌和1∶1成组频数匹配原则获得的101例对照进行研究。基因分型采用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)分析方法,采用非条件Logistic回归模型评估各SNP基因型与乳腺癌发病风险的关联。[结果]甘肃汉族妇女人群正常对照组XPF基因SNP位点rs3136189的TT、CT和CC基因频率分别为59.41%、39.60%和0.99%,而乳腺癌组分布频率分别为53.47%、40.59%和5.94%。rs1800067正常对照组的GG、AG和AA基因频率分别为98.02%、1.98%和0,乳腺癌组分别为99.01%、0.99%、0。2个SNPs位点基因型和等位基因在两组间分布差异均无统计学意义(P>0.05)。乳腺癌患者肿瘤大小、有无淋巴结转移及ER、PR、C-erb B-2、p53和Ki67蛋白表达与rs3136189位点基因型频率分布均无相关性(P>0.05)。[结论 ]甘肃汉族妇女人群XPF基因rs3136189及rs1800067多态性位点与乳腺癌的发病风险间未发现显著性关联。     

NRG1基因多态性协同miRNA-142水平与甲状腺癌侵袭转移的关系研究

摘 要： ［目的］ 分析神经调节素1（NRG1）基因多态性协同微小核糖核酸miRNA-142（miR-142）水平与甲状腺癌侵袭转移的关系。［方法］ 选择120例甲状腺癌患者作为病例组,另选同期体检的120名健康者作为对照组。采用聚合酶链反应-限制性片段长度多态性法（PCR-RFLP）测定NRG1基因3个不同位点的单核苷酸多态性（SNP）,TaqMan等位基因分型技术分析基因分型及基因频率,实时定量PCR法测定血清miR-142水平。对比各组间NRG1基因多态性、miR-142水平差异,进行Logistic回归交互作用分析,绘制受试者工作特征（ROC）曲线,分析NRG1基因多态性协同miR-142水平预测甲状腺癌患者包膜浸润、淋巴结转移的价值。［结果］ 病例组NRG1基因rs6994992、rs7835688位点基因型分布频率与对照组比较,差异无统计学意义（P＞0.05）;病例组NRG1基因rs3924999位点携带A等位基因突变的基因型AA+GA与野生型GG相比,差异有统计学意义（P＜0.05）,携带AA+GA基因型的发病风险增加2.664倍（95%CI：1.062~6.684）;病例组NRG1基因rs3924999位点等位基因频率分布与对照组比较,差异有统计学意义（P＜0.05）,等位基因A突变可使发病风险增加2.056倍（95%CI：1.388~3.045）。病例组血清miR-142表达水平（0.61±0.19）低于对照组（1.00±0.21）（P＜0.05）。包膜浸润组、淋巴结转移组患者NRG1基因rs3924999位点基因频率分布分别与无包膜浸润组、无淋巴结转移组相比,差异均有统计学意义（P＜0.05）。Logistic回归交互分析证实NRG1基因rs3924999位点多态性、miR-142之间存在交互作用,NRG1基因rs3924999位点多态性协同miR-142水平预测甲状腺癌患者包膜浸润、淋巴结转移的AUC分别为0.785（95%CI：0.701~0.869）、0.797（95%CI：0.715~0.897）。［结论］ NRG1基因rs3924999位点多态性、miR-142水平与甲状腺癌发生、侵袭、转移密切相关,两者存在交互作用,且协同有助于预测甲状腺患者包膜浸润、淋巴结转移。     

TNF-α基因rs1800629位点多态性与子宫内膜癌风险相关性研究

目的探讨TNF-α基因rs1800629位点多态性与东北地区汉族人群子宫内膜癌发生风险的相关性。方法选取2011-08-01-2012-12-01中国医科大学附属盛京医院手术病理确诊的子宫内膜癌患者263例,同时选取同院同期体检中心的正常对照人群315名。用限制性片段长度多态性方法（polymerase chain reaction-restriction fragment length polymorphism,PCR-RLFP）对TNF-α基因rs1800629位点进行基因分型。结果在子宫内膜癌的风险因素中,体质量指数（body mass index,BMI）≥24、高血压和糖尿病为子宫内膜癌的高危因素,病例组3者比例分别为37.3%、39.5%和14.4%,对照组3者比例分别为29.2%、11.7%和5.1%,两组相比差异有统计学意义,P值分别为0.041、〈0.001和〈0.001。病例组rs1800629位点A等位基因频率为13.3%,而对照组为8.9%,病例组显著高于对照组,P=0.017。病例组rs1800629位点AA基因型频率为7.2%,也明显高于对照组的3.5%,P=0.043。单因素分析显示,AA基因型增加子宫内膜癌的风险（OR=2.200,95%CI：1.025-4.723,P=0.043）,但是经多因素回归分析校正后,AA基因型并不增加子宫内膜癌的风险（OR=1.274,95%CI：0.322-5.039,P=0.730）。高、中和低分化组AA基因型频率分别为10.2%、4.4%和6.7%,组间比较差异无统计学意义（P=0.386）,提示rs1800629位点不同基因型与分化程度并无关联。结论在东北地区汉族女性中,TNF-α基因rs1800629位点多态性可能与子宫内膜癌的发生风险无关。     

晚期大肠癌ERCC5基因启动子-763A>G多态性与铂类药物疗效相关性的研究

目的:探讨ERCC5基因启动子区单核苷酸多态性与中国汉族晚期大肠癌奥沙利铂疗效的相关性.方法:收集以奥沙利铂为主化疗的105例晚期大肠癌患者化疗开始前静脉血,提取基因组DNA,应用PCR-LDR方法检测ERCC5基因3个SNP位点-1415C>T(rs2094258)、-763A>G(rs2016073)及-413C>T(rs943245)多态性,分析不同基因型与疾病控制率、无进展生存期(PFS)的相关性.结果:携带ERCC5-763GG、-763AG和-763AA基因型的患者化疗疾病控制率分别为86.7%、69.2%和52.6%,其中携带-763GG基因型的患者疾病控制率显著高于携带-763AA基因型的患者,P=0.028.携带-763AA基因型的患者中位PFS(36/95例,6个月)低于携带-763AG基因型(48/95例,8个月)及携带-763GG基因型(11/95例,10个月)的患者,差异有统计学意义,x2=9.205,P=0.002.-1415C>T多态性与化疗疾病控制率和PFS之间均无显著相关性.-413C>T位点未发现遗传多态.结论:ERCC5启动子区-763A>G单核苷酸多态性与晚期大肠癌奥沙利铂临床疗效相关.     

PALB2基因遗传多态性在早发性乳腺癌中的作用

背景与目的:PALB2基因是新近发现的乳腺痛易感基因,其多个遗传单核苷酸多态性(SNP)可能与乳腺癌发病风险有关,本研究探讨PALB2基因rs249954、rs447529及rs16940342多态性在福建早发性乳腺癌人群中的分布及其与乳腺癌发病风险的相关性.方法:对124例早发性乳腺癌患者(年龄≤35岁)和101例健康女性进行PALB2基因rs249954、rs447529及rs16940342 PCR扩增,并采用基质辅助激光解吸电离飞行时间质谱分析(MALDI-TOF-MS)法鉴定其基因型,比较各基因型分布和发病风险的关系;应用非条件Logistic回归分析计算危险度(OR)及95%CI.结果:PALB2基因rs249954、rs447529及rs16940342多态性基因型在病例组中的分布频率与对照组的分布频率均未见明显差异(P＞0.05).Logistic回归分析表明,在早发性乳腺癌人群中,以rs249954的CC基因型、rs447529 CC基因型及rs16940342 AA基因型为参照,各基因多态性位点的其他基因型,均未能显著改变乳腺癌的发病危险(P＞0.05).各基因型风险比分别为1.061(rs249954 TT vs CC),0.793(rs447529 GG vs CC)以及0.921(rs16940342 GG vs AA).结论:PALB2基因rs249954、rs447529及rs16940342多态性可能与福建地区汉族人群早发性乳腺癌的遗传易感性无关,作为低外显率的乳腺癌易感基因位点和未来临床基因筛查的候选指标尚需谨慎.     

TOX3基因单核苷酸多态与中国北方汉族绝经前妇女乳腺癌风险关联的研究

目的:探讨TOX3基因单核苷酸多态与中国北方汉族绝经前妇女乳腺癌风险的关系。方法:采用多重单碱基延伸单核苷酸多态性分型技术(Snapshot)分析方法,检测280例绝经前的乳腺癌患者和287例绝经前的正常对照者TOX3基因rs3803662和rs12443621多态性位点基因型,并比较不同基因型与乳腺癌风险的关系。结果:TOX3基因rs3803662和rs12443621多态性位点基因型频率,在乳腺癌病例组和对照组之间差异无统计学意义,P值分别为0.718和0.340。Logistic回归分析结果显示,对于rs3803662位点,与GG基因型相比,GA、AA和GA+AA基因型与乳腺癌的危险性无关(OR=0.846,95%CI:0.489～1.463,P=0.549;OR=0.802,95%CI:0.470～1.368,P=0.418;OR=0.821,95%CI:0.492～1.368,P=0.449);对于rs12443621位点,与GG基因型相比,GA、AA和GA+AA基因型与乳腺癌的危险性无关(OR=0.755,95%CI:0.518～1.099,P=0.755;OR=0.850,95%CI:0.528～1.368,P=0.504;OR=0.781,95%CI:0.548～1.112,P=0.170)。结论:在目前样本条件下,TOX3基因rs3803662和rs12443621位点多态性与中国北方汉族绝经前妇女乳腺癌易感性之间无明显关联。     

广西扶绥县壮族人群 ESR1 基因SNP与肝癌家系遗传易感性的关系

目的：探讨广西壮族自治区扶绥县肝癌高发地区壮族人群雌激素受体1基因（estrogen receptor1 gene, ESR1）单核苷酸多态性(single nucleotide polymorphism,SNP)与肝癌遗传易感性的关系。方法： 采用病例-对照研究和限制性片段长度聚合酶链反应（PCR-RFLP）方法,对扶绥县21个肝癌高发家系组共85例及同居住地10个正常对照家系组共39例进行 ESR1 基因型分布频率的检测;运用非条件Logistic回归分析基因多态性与肝癌发生危险性的关系,并将实验结果结合临床资料进行统计学分析。 结果： （1）经 ESR1 基因型检测分型,正常对照家系组人群携带AA、AG、GG基因型频率分别为74.36%、17.95%和7.69%;肝癌高发家系组人群携带AA、AG、GG基因型频率分别为83.53%、11.76%和4.71%;（2）基因型在两组人群中的分布符合 Hardy-Weinberg平衡定律;（3）正常对照家系组人群中AG、GG基因型个体罹患肝癌的风险率分别是AA基因型个体的0.218（95% CI =0.025~1917, P =0.170）和0.509（95% CI =0.049~5.260, P =0.571）,肝癌高发家系组人群中非肝癌者AG、GG基因型的个体罹患肝癌的风险率分别是AA基因型个体的0.298（95% CI =0.035~2.515, P =0.233）和0.671（95% CI =0.070~6.391, P =0729）,差异均无统计学意义。 结论： 广西扶绥县壮族人群中, ESR1 基因rs3798757位点SNP多态性与罹患肝癌无关。     

Genetic Polymorphism of Epidermal Growth Factor Gene as a Predictor of Hepatocellular Carcinoma in Hepatitis C Cirrhotic Patients

Background: In Egypt, the incidence of hepatocellular carcinoma (HCC) is approximately 4.7% of chronic liver disease patients due to (HCV) infection. Epidermal growth factor (EGF) plays an important role in hepatocyte regeneration. A functional polymorphism in EGF 61A>G was identified; itwas associated with higher risk of HCC. Objectives: to investigate the correlation between the epidermal growth factor (EGF) polymorphism and the risk of hepatocellular carcinoma (HCC) in hepatitis C viral (HCV) cirrhotic patients as well as its relation to EGF protein expression in HCC tissue. Patients and methods: this casecontrol study was conducted on 75 HCV cirrhotic patients including 50 HCC patients (25 withresectable HCC and 25 with advanced unresectable HCC) and 25 healthy persons were included. EGF genotype was detected by restriction fragment length polymorphism. EGF expression in HCC tissue biopsiesfrom patientswhounderwent surgical resection was done by immunohistochemical examination. Results: The GG genotype was associated with significant increased risk of HCC compared to AA genotypes (P=0.031) in cirrhotic group. The G allele had a highly significant risk of HCC compared to allele Ain recessive model GG vs. AG+AA (P=0.036) rather than in the dominant model GG +AG vs. AA (P=0.66). There was significant increased expression of EGF in tumour tissues in patients with GG genotype compared to AG genotype and AA genotype p= 0.019. Conclusion: EGF gene polymorphism (GG genotype) had a significant risk of HCC development in cirrhotic patients. This is confirmed by increased EGF expression in liver tumor tissue from HCC patients.     

Interleukin-10-1082A>G (rs1800896) Single Nucleotide Polymorphism is Not a Risk Factor of Chronic Lymphocytic Leukemia in Sudanese Population

Objective: The present study was conducted to examine the association between the IL-10-1082A>G (rs 1800896) polymorphism and risk of Chronic Lymphocytic Leukemia and to assess the correlation between this polymorphism and clinicopathological characters. Methods: A case-control study was conducted in Khartoum state, Sudan, during the period from April 2017 to April 2018, involved 110 CLL patients and 80 healthy volunteers as a control group. Physical examination, complete blood count, and immunophenotype were performed in all patients to confirm the diagnosis. Clinical staging such as Rai and Binet were studied. CD38 and ZAP70 were performed by flow cytometry. Blood samples were collected from all participants; DNA was extracted by using ANALYTIKJENA Blood DNA Extraction Kit and analyzed IL-10-1082A>G polymorphism by using Allele Specific-Polymerase Chain Reaction. The statistical analysis was performed using statistical  package  for  social  sciences  version 23.0 software. Results: Frequency of AA, AG, and GG genotypes was 32.7%, 55.5%, and 11.8% for the patient group and 31.25%, 51.25%, and 17.5% in the control group, respectively. The genotype of IL-10 (-1082A>G) did not associate with susceptibility of CLL in our population. The study showed that the G allele of the IL-10 gene (-1082A>G) is associated with the male sex. However, no significant association was found between -1082A>G genotype and clinicopathological characters. Conclusion: Our results do not support the involvement of the IL-10 −1082A>G promoter gene polymorphism in the increased CLL susceptibility. IL-10-1082G allele (IL-10-1082AG or IL-10-1082GG) was found more frequently in males. Furthermore, no association was observed between the IL-10-1082A>G polymorphism and clinical stages systems as well as established poor prognostic markers. Finally, within the group of patients with CLL, there was no difference in the age at diagnosis and hematological parameters according to genotype distributions.     

瘦素水平及其基因多态性与非小细胞肺癌易感性的关系分析#br# #br#

目的 探讨瘦素（LEP）水平及其单核苷酸多态性（SNPs）与非小细胞肺癌（NSCLC）易感性的关系。方法 收集2014年1月至2016年12月经病理确诊的142例NSCLC患者的外周血,在Sequenom MassARRAY系统上利用基质辅助激光解吸电离飞行时间质谱法（MALDI TOFMS）进行LEP多态性位点rs4731423、rs10487506、rs2167270、rs17151919、rs1800564和rs11761556的基因分型,同时收集176例健康体检者的外周血进行对比。采用Hardy Weinberg平衡分析以上6个SNPs位点的遗传平衡情况,比较两组以上SNPs基因型和等位基因的分布差异并计算比值比（OR）及其95％置信区间（95％CI）来评价NSCLC易感性;采用放射免疫分析法检测142例NSCLC患者的血清LEP水平,并分析与NSCLC临床病理学特征（性别、年龄、病理类型、肿瘤大小、TNM分期及淋巴结转移）和LEP SNPs的关系。结果 142例NSCLC患者及176例健康体检者rs4731423、rs10487506、rs2167270和rs11761556基因型的分布符合Hardy Weinberg平衡。NSCLC组与对照组rs10487506、rs11761556基因型及等位基因分布的差异无统计学意义（P＞0.05）;rs4731423分布上,NSCLC组GG基因型频率为31.7％（45／142）,G等位基因频率为51.4％（146／284）,均高于对照组的188％（33／176）和372％（131／352）,差异有统计学意义（P＜0.05）;rs2167270分布上,NSCLC组AA基因型频率为15.5％（22／142）,高于对照组的7.4％（13／176）,差异有统计学意义（P＜0.05）,但两组等位基因分布频率的差异无统计学意义（P＞0.05）。LEP rs10487506、rs2167270和rs11761556与NSCLC的发病风险均无关（P＞0.05）;rs4731423分布上,以AA基因型为参照,GG基因型发生NSCLC的风险升高至2594倍,AG+GG基因型则升高至1961倍（P＜0.05）,而AG基因型发生NSCLC的风险未改变（P＞005）;以A等位基因为参照,G等位基因发生NSCLC的风险升高至1785倍（P＜0.05）。血清LEP水平与性别、年龄、病理类型、淋巴结转移、rs10487506、rs2167270及rs11761556均无关,但与肿瘤大小、TNM分期有关（P＜0.05）;血清LEP水平与rs4731423有关,其中AG、GG和AG+GG基因型的血清LEP水平均高于AA型,差异有统计学意义（P＜0.05）。结论 LEP rs4731423与NSCLC易感性及LEP水平有关,其中携带G等位基因的NSCLC发生风险升高且LEP水平升高,在NSCLC易感人群筛查中有一定价值。     

MDM2 (RS769412) G>A Polymorphism in Cigarette Smokers: a Clue for the Susceptibility to Smoking and Lung Cancer Risk

Cigarette smoke contains oxidants and free radicals which are carcinogens that can induce mutations inhumans. Single nucleotide polymorphisms (SNPs) are the most frequent genetic alterations found in the humangenome. In the present study, we have examined the ability of the murine double minute 2 (Mdm2) (rs769412)A>G polymorphism in cigarette smokers to predict risk of cancers. Our results showed that of smokers, 87% werefound with AA genotype, 10% with heterozygous AG genotype, and 3% with GG genotype. The heterozygous AGgenotype was observed in a lower percentage of smokers (10%) as compared to non-smokers (18%), whereas,homozygous AA genotype was observed in lower percentage of non-smokers (81%) as compared to the smokers(87%). The results from present study support the association with an allele and AG genotype in non-smokers.However, further studies are required to establish the role of Mdm2 (rs769412) C>T in cigarettes smokers anddiseases.     

凋亡相关基因Fas-1377和Fas-670基因多态对乳腺癌预后的影响

目的 探讨Fas-1377和Fas-670基因的多态性与中国女性乳腺癌患者预后之间的关系.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测310例中位随访时间达10.5年的原发性乳腺癌患者Fas-1377和Fas-670基因的多态性,分析其与乳腺癌预后的关系.结果 Fas-1377和Fas-670基因的多态性与全组乳腺癌患者的预后无显著的相关性(P>0.05).在腋淋巴结阴性的患者中,Fas-1377基因多态性与乳腺癌患者的预后显著相关,AA纯合突变型患者的5年总生存率(OS)显著低于GA和GG基因型者(66.7%:95.4%,P=0.03);而Fas-670基因多态性与腋淋巴结阴性患者的预后无显著的相关性(P>0.05).在腋淋巴结阳性的患者中,Fas-1377和Fas-670基因的多态性与患者的5年OS均无显著的相关性(均P>0.05).结论 在腋淋巴结阴性的乳腺癌患者中,Fas-1377基因多态具有潜在的预后价值,携带Fas-1377 AA基因型的乳腺癌患者预后不良.     

Rs895819 within miR-27a Might be Involved in Development of Non Small Cell Lung Cancer in the Chinese Han Population

MicroRNA-27a (miR-27a) is deemed to be an oncogene that plays an important role in development ofvarious cancers, and single nucleotide polymorphism (SNP) of miR-27a can influence the maturation oraberrant expression of hsa-miR27a, resulting in increased risk of cancer and poor prognosis for non-small celllung cancer (NSCLC). This study aimed to assess the effects of rs895819 within miR-27a on susceptibility andprognosis of NSCLC patients in 560 clinical confirmed cases and 568 healthy check-up individuals. Adjustedodds/hazard ratios (ORs/HRs) and 95% confidential intervals (CIs) were calculated to evaluate the associationbetween rs895819 and the risk and prognosis of NSCLC. The results showed that allele A and genotype GG ofrs895819 were significantly associated with an increased risk of NSCLC (38.9% vs 30.8%, adjusted OR=1.26,95%CI=1.23-1.29 for allele G vs A; 18.1% vs 11.7%, adjusted OR=1.67, 95%CI=1.59-1.75 for genotype GG vs AA).Moreover, positive associations were also observed in dominant and recessive models (53.7% vs 49.9%, adjustedOR=1.17, 95%CI=1.13-1.20 for GG/AG vs AA; 18.1% vs 11.7%, adjusted=1.65, 95%CI=1.58-1.73). However,no significant association was found between rs895819 and the prognosis of NSCLC in genotype, dominant andrecessive models. These results suggested that miR-27a might be involved in NSCLC carcinogenesis, but not inprogression of NSCLC. The allele G, genotype GG and allele G carrier (GG/AG vs AA) of rs895819 might begenetic susceptible factors for NSCLC. Further multi-central, large sample size and well-designed prospectivestudies as well as functional studies are warranted to verify our findings.     

Lack of Association between Hsa-Mir-499 rs3746444 Polymorphism and Cancer Risk: Meta-analysis Findings

Epidemiologic findings concerning the association between the hsa-mir-499 rs3746444 A>G polymorphismand cancer risk have yielded mixed results. We aimed to investigate the association by performing a meta-analysisof all available studies. We searched PubMed and EMBASE for studies published up to November 2014, usingodds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of any association. The Benjamini-Hochberg (BH) method was used to correct the p values for multiple comparisons. We included 39 studies,including 14,136 cases and 16,937 controls. The results of overall meta-analysis suggested a borderline associationbetween hsa-mir-499 rs3746444 polymorphism and cancer susceptibility (AG+GG vs. AA: OR=1.15, 95% CI=1.04-1.26, corrected p value=0.04). After removing studies not conforming to Hardy–Weinberg equilibrium(HWE), however, this association disappeared (AG+GG vs AA: OR=1.18, 95% CI=1.03-1.34, corrected pvalue=0.21). When stratified analysis by ethnicity, cancer type or HWE in controls, although some associationsbetween hsa-mir-499 rs3746444 polymorphism and cancer susceptibility were detected, these associations nolonger existed after adjustment using BH method. In conclusion, our meta-analysis suggests that hsa-mir-499rs3746444 A>G polymorphism is not associated with risk of cancer based on current evidence.     

CXCL12 G801A polymorphism is a risk factor for sporadic prostate cancer susceptibility.

PURPOSE: The chemokine CXCL12 and its receptor CXCR4 have been found to be associated with cancer metastasis. A single nucleotide polymorphism of CXCL12 G801A has been described and is regarded as a target for cis-acting factor that has the ability to up-regulate CXCL12 expression. Currently, there are no reports investigating the role of CXCL12 G801A polymorphism in prostate cancer (PC). EXPERIMENTAL DESIGN: We genotyped CXCL12 G801A and p53Arg72Pro in 167 PC patients and 167 age-matched healthy subjects. Genotyping was done with PCR-RFLP and confirmed by direct DNA sequencing. To investigate the effect of the CXCL12 G801A polymorphism on CXCL12 and CXCR4 expression, immunohistochemistry was done in genotyped PC tissues. RESULTS: A significant increase in the GA + AA genotype of the CXCL12 G801A polymorphism was observed in PC patients compared with healthy controls. The frequency of CXCL12 AA genotype was significantly higher in a group of patients with lymph node metastasis (23%) compared with those without metastasis (7%). The frequency of CXCL12 expression in AA + GA genotype carriers was significantly higher than that in GG genotype carriers. Among the carriers with CXCL12 GA + AA genotypes, CXCR4 expression was also significantly higher compared with those with the GG genotype. Moreover, among the groups with both CXCL12- and CXCR4-positive staining, the frequency of the CXCL12 GA + AA genotype was high. Although we did not find a significant relationship between the frequency of the Arg/Pro + Pro/Pro genotype of p53 Arg72Pro and susceptibility in PC, there was a combined effect of CXCL12 GA + AA genotype and the p53 72Arg/Pro + Pro/Pro genotype on the frequency of PC. These results indicate that the p53 codon 72 polymorphism may interact with CXCL12 G801A. CONCLUSIONS: This is the first report showing that CXCL12 G801A polymorphism may be a risk factor for PC. Moreover, this study suggests that this polymorphism can be an important marker for detecting microinvasion and PC metastasis.