TP63 rs6790167多态性与海南汉族人肺癌的相关性研究

  目的  探讨TP63 rs6790167多态性与海南汉族人肺癌之间的相关性。  方法  收集2014年6月至2015年7月258例海南医学院第二附属医院就诊的肺癌患者和270例健康对照者的外周静脉血,采用病例对照研究的方法,提取血液基因组DNA,应用等位基因特异性聚合酶链反应（allele-specific PCR,AS-PCR）法检测肺癌组和对照组人群的TP63 rs6790167位点的多态基因型。  结果  肺癌组中TP63 rs6790167位点的G等位基因分布频率明显高于对照组（P=0.045）。进一步分层分析显示,在肺腺癌组中,非吸烟男性的GG基因型分布和G等位基因的分布频率均显著高于对照组（P < 0.001,P=0.001）,携带GG基因型的非吸烟男性的肺腺癌发病风险与AA基因型相比明显升高（OR=6.66,95%CI为2.16~20.41）,相对于TP63 rs6790167位点的A等位基因,携带G等位基因的非吸烟男性的肺腺癌发病风险显著增加（OR=2.54,95%CI为1.42~4.56）。  结论  TP63 rs6790167多态性与肺腺癌的发生有关,对非吸烟男性人群肺腺癌的发生可能具有预测作用。      

XPD基因多态性与非吸烟女性肺癌易感性的关系

背景与目的 着色性干皮病互补基因D（xeroderma pigmentosum group D，XPD）是一种重要的DNA损伤修复基因，其常见的多态是位于751密码子的A→C多态。本研究旨在探讨XPD基因751位点单核苷酸多态性与非吸烟女性肺癌易感性的关系，并探讨油烟暴露与基因多态性交互作用对肺癌风险的影响。方法 采用病例-对照研究方法，纳入非吸烟女性肺癌患者105人和对照105人。以聚合酶链反应-限制性片段长度多态性方法分析XPD基因Lys751Gln多态基因型。结果 携带至少1个751Gln等位基因者患肺癌的风险显著增高，调整OR为2．80（95％CI为1．21～6．48）。携带等位基因751Gln又有油烟暴露的个体患肺癌的风险较两个危险因素单独作用时更高，校正OR为6．85（95％CI为1．69～27．67，P=0．007）。结论 XPD基因Lys751Gln多态是非吸烟女性肺癌的遗传易感因素。携带XPD751Gln等位基因又有油烟暴露的非吸烟女性患肺癌的风险明显增高。     

X射线损伤修复交叉互补基因1多态性与非吸烟女性肺癌易感性的关系

目的探讨X射线损伤修复交叉互补基因1（XRCCl）单核苷酸多态性与非吸烟女性肺癌易感性的关系。方法采用以医院患者为基础的病例一对照研究方法,非吸烟女性肺癌患者50例,非癌对照50例。以聚合酶链反应一限制性片段长度多态性（PCR—RFLP）方法检测XRCC1基因Arg399Gln多态性,计算各基因型的比值比（OR）,并探讨烹饪油烟暴露史与多态基因型交互作用对肺癌患癌风险的影响。结果肺癌组与对照组XRCC1 Arg399Gln多态基因型分布差异无统计学意义（P〉0．05）,而腺癌组基因型分布与对照组差异有统计学意义（P〈0．05）。相对于399Arg／Arg基因型,携带至少1个Gin等位基因的个体患肺腺癌的调整OR值为2．19（95％CI为0．73～6．61）,而XRCC1 399Gin／Gin基因型携带者的调整OR值为14．12（95％CI为2、14～92．95）。携带至少1个399Gln等位基因的烹饪油烟暴露者患肺腺癌的风险明显升高,调整OR值为6．29（95％c,为1．99～19、85）。结论XRCC1基因Arg399Gln多态可能是非吸烟女性肺腺癌的遗传易感因素,399Gln等位基因与烹饪油烟交互作用,可提高非吸烟女性肺腺癌的发病风险。     

江西汉族女性BRCA2基因单核苷酸多态性与散发性乳腺癌易感相关性研究

目的:探讨BRCA2基因单核苷酸多态性(SNP)与江西汉族女性散发性乳腺癌易感性的关系。方法:利用SequenomMassArrayiPLEX GOLD系统对江西南昌大学第一附属医院散发性乳腺癌患者152例和健康对照组165名的BRCA2基因编码区3个单核苷酸多态性位点(rs766173,rs144848,rs1801426)进行基因型检测,非条件Logistic回归分析。结果:rs766173位点基因型和等位基因型频率分布差异均有统计学意义(χ2=4.602,P=0.032;χ2=4.097,P=0.043)。相对TT基因型,TG杂合型与TG+GG型均能显著性增加乳腺癌发生的危险性,OR值(95%CI)分别为1.971(1.060~3.666)和1.934(1.052~3.555),P分别为0.032和0.034。相对等位基因T,等位基因G为易感等位基因,OR值为1.792(95%CI=1.012~3.172,P=0.045)。另外两个位点rs144848和rs1801426多态性分布频率在乳腺癌组和对照组之间差异无统计学意义。结论:rs766173位点基因多态性与江西地区汉族女性散发性乳腺癌易感性相关,另外两个多态性位点rs144848和rs1801426与江西地区女性散发性乳腺癌易感性无关。     

硫酸基转移酶1E1基因单核苷酸多态性联合吸烟与肺癌易感性的关系

目的:研究硫酸基转移酶(sulfotransferase,SULT)1E1基因的单核苷酸多态性(single nucleotide polymorphism,SNP)联合吸烟与肺癌易感性的关系.方法:采用病例-对照研究,收集原发性肺癌患者351例和非肿瘤患者207例,应用AllGloTM探针结合实时荧光PCR方法分析肺癌组和对照组中SLUT1E1多态位点A-3037G(rs4149525)基因型分布情况,比较不同基因型联合吸烟与肺癌易感性的关系,以及对肺癌不同病理类型的影响. 结果:肺癌患者A-3037G多态位点的AA、AG、GG基因型和A、G等位基因频率分布与对照组比较,差异无统计学意义(P>0.05).吸烟≥30包年的野生型纯合子个体罹患肺癌的风险增加,调整比值比(odds ratio,OR)为2.307[95%可信区间(confidence interval,CI)为1.285～3.976,P<0.05];吸烟≥30包年携带突变等位基因G的个体患肺癌的风险可能增加,调整OR值为1.523(95%CI为0.987～2.961,P=0.05).3种基因型联合吸烟(≥30包年)可能增加了罹患肺鳞癌的风险,AA和AG+GG基因型的OR值分别为5.983(95%CI为2.786～12.850,P<0.01)和2.750(95%CI为1.245～6.075,P<0.05);而突变等位基因G对不吸烟个体似乎具有保护作用,OR值为0.296(95%CI为0.101～0.864,P<0.05);A-3037G多态性联合吸烟对肺腺癌的发病风险没有显著影响.结论:SULT1E1基因启动子区A-3037G多态性联合吸烟可能对肺癌的发病风险有一定影响.     

DNA修复基因XPD G312A多态性与肺癌易感性关系的meta分析

背景与目的已有的研究结果显示DNA修复基因XPD G312A多态位点与肺癌发生存在相关性,但研究结果尚未有一致性结论。本研究旨在通过meta分析的方法,综合评价DNA修复基因XPD G312A多态位点与肺癌发病风险的相关性。方法检索PUBMED、EMBASE、清华CNKI全文数据库、万方全文数据库中XPD基因G312A多态位点与肺癌易感性关系的病例对照研究。对符合纳入标准的研究用meta分析的方法进行数据合并,采用RevMan5.0和STATA11.0评价研究间异质性,计算合并OR值及95%CI。并进行敏感性分析和发表偏倚检验。结果共纳入18项研究,累计病例6554例,对照8322例。总体人群中A等位基因及AA基因型携带者肺癌风险明显升高(A vs G:OR=1.06,95%CI:1.00-1.12;AA vs AG+GG:OR=1.20,95%CI:1.06-1.36;AA vs GG:OR=1.19,95%CI:1.04-1.36)。亚洲人群中,AA基因型携带者肺癌风险明显升高(AA vs AG+GG:OR=7.15,95%CI:1.90-26.94;AA vs GG:OR=7.20,95%CI:1.91-27.15)。高加索人群中,AA基因型携带者肺癌风险升高(AA vs AG+GG:OR=1.15,95%CI:1.01-1.31)。结论XPD312A等位基因为肺癌发生的风险等位基因,AA基因型携带者肺癌风险升高,尤其在亚洲人群这种影响更为明显。     

2q35 rs13387042和8q24 rs13281615单核苷酸多态性与中国东北汉族绝经前妇女乳腺癌风险关系

背景与目的：乳腺癌作为中国女性最常见的恶性肿瘤,每年的新发数量和死亡数量分别占全世界的12.2%和9.6%,但与中国乳腺癌患者明显相关的基因多态位点至今尚不清楚。本研究旨在探讨2q35 rs13387042和8q24 rs13281615单核苷酸多态性与中国北方汉族绝经前妇女乳腺癌风险关系,为预防和治疗乳腺癌提供循证依据。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,检测了280例绝经前乳腺癌患者和287例绝经前正常对照者2q35 rs13387042和8q24 rs13281615多态性位点基因型,并比较不同基因型和等位基因与乳腺癌风险的关系。结果：2q35 rs13387042多态性位点基因型频率在乳腺癌和对照样本之间差异有统计学意义(P=0.017);8q24 rs13281615多态性位点基因型频率在乳腺癌和对照样本之间差异无统计学意义(P=0.967)。Logistic回归分析结果显示,对于2q35 rs13387042位点,与GG相比,GA和GA+AA基因型携带者显著增加乳腺癌的患病风险(OR=1.793,95%CI：1.177～2.733,P=0.007;OR=1.691,95%CI：1.122～2.550,P=0.012),而AA携带者与乳腺癌的患病风险无关(OR=0.572,95%CI：0.104～3.153,P=0.521);与G等位基因相比,A等位基因显著增加乳腺癌的患病风险(OR=1.505,95%CI：1.033～2.193,P=0.033)。对于8q24rs13281615位点,与AA相比,AG、GG和AG+GG基因型携带者与乳腺癌的患病风险无关(OR=0.992,95%CI：0.660～1.490,P=0.968;OR=1.047,95%CI：0.642～1.708,P=0.853;OR=1.007,95%CI：0.682～1.487,P=0.971);与A等位基因相比,G等位基因不增加乳腺癌患病风险(OR=1.021,95%CI：0.809～1.288,P=0.863)。结论：本实验证实2q35 rs13387042多态性位点能够增加中国北方汉族绝经前妇女乳腺癌易感风险,而8q24 rs13281615多态性位点与中国北方汉族绝经前妇女乳腺癌易感性无明显相关性。     

pre-miR-27a基因rs895819多态性与大肠癌易感性的Meta分析

目的 近年来,有关pre-miR-27a基因rs895819位点多态性与大肠癌易感性关系的研究日益增多,但结论并不一致.本研究从循证医学角度,综合评价pre-miR-27a基因rs895819位点多态性与大肠癌易感性的关系.方法 通过检索数据库PubMed、Cochrane Library、EMBASE以及中国知网数据库、万方数据库,收集有关pre-miR-27a基因rs895819位点多态性与大肠癌罹患风险关系的病例-对照研究.检索时间1998-01-01-2015-11-01.依据文献纳入及排除标准筛选相关文献,提取基本数据信息并进行文献质量评估.采用Stata 12.0软件行Meta分析,计算合并OR值和95％CI,并进一步行亚组分析和敏感性分析.结果 最终纳入6个病例-对照研究(包括2 025例大肠癌患者和2 320例非肿瘤对照者).Meta分析结果显示,pre-miR-27a基因rs895819多态性与大肠癌罹患风险具有显著的相关性,GvsA:OR=1.18,95％CI=1.08～1.30;GG vs AA/AG:OR=1.52,95％CI=1.26～1.97;GG vs AA:OR=1.53,95％CI=1.26～1.86,P值均＜0.05.亚组分析结果发现,亚洲人群也有相似的结论,Gvs A:OR=1.21,95％CI=1.09～1.35;AG/GG vs AA:OR=1.15,95％CI=1.00～1.32;GG vs AA/AG:OR=1.57,95％CI=1.27～1.93;GG vs AA:OR=1.59,95％CI=1.27～1.98,P值均＜0.05.结论 pre-miR-27a基因rs895819多态性与大肠癌易感性之间具有相关性,并且GG基因型具有增加罹患大肠癌的风险.     

KRT81 rs3660变异对肺癌发病风险的影响北大核心CSCD

目的探讨KRT81基因3'UTR rs3660多态与肺癌遗传易感性之间的关系。方法使用Taq ManMGB荧光探针标记法对KRT81基因rs3660遗传变异进行基因分型。用Logistic回归计算rs3660各基因型影响非小细胞肺癌(NSCLC)和小细胞肺癌(SCLC)发病风险的OR值及95%CI。结果 KRT81基因rs3660G>C变异影响SCLC发病风险(P=0.048),但与NSCLC发病风险无关(P=0.614)。与rs3660GG基因型携带者相比,至少携带一个C等位基因者患SCLC风险显著降低(OR=0.70,95%CI:0.49~0.99)。吸烟分层分析显示,在不吸烟组中,至少携带一个C等位基因的非吸烟者具有较低的SCLC发病风险(OR=0.60,95%CI:0.36~0.99,P=0.049)。进一步以累计吸烟量来分析,未发现至少携带一个C等位基因的轻度吸烟者(或重度吸烟者)具有较低的SCLC发病风险(OR=0.61,95%CI:0.26~1.43,P=0.254)。结论 KRT81基因rs3660G>C变异影响SCLC发病风险,但与NSCLC发病风险无关。     

核苷转运蛋白基因ENT3单核苷酸多态性与肺癌易感性的关系

背景与目的核苷转运蛋白介导的核苷跨膜转运在调节细胞功能中发挥重要作用,可能是某些肿瘤的候选易感基因。本研究旨在探讨核苷转运蛋白基因ENT3单核苷酸多态性与肺癌易感性的关系。方法采用病例对照研究,收集2008年5月-2009年5月于上海市肺科医院就诊的原发性肺癌患者351例和同期住院的非肿瘤患者207例,应用AllGloTM探针结合实时荧光PCR方法分析肺癌组和对照组ENT3基因rs10999776多态位点的基因型分布情况,比较不同基因型与肺癌易感性的关系以及不同基因型联合吸烟对肺癌易感性的影响。肺癌组与对照组基因型和等位基因分布比较用χ2检验,以调整比值比及95%CI表示相对危险度,所有统计检验均为双侧概率检验,所有资料均用SPSS软件进行统计。结果肺癌患者rs10999776多态位点的CC、TC、TT基因型和C、T等位基因频率分布与对照组比较无统计学差异(P0.05)。与非吸烟的野生型纯合子个体比较,携带突变等位基因T(TC+TT)的吸烟个体罹患肺癌的风险性明显增加,且吸烟≥30包/年者风险性更高,调整OR值分别为2.848(95%CI:1.536-4.879,P=0.005)、3.076(95%CI:2.308-6.741,P=0.001)。而对肺癌不同组织类型的分析发现,三种基因型的吸烟个体罹患肺鳞癌的风险性均增加,且携带突变等位基因T的个体风险性更高,调整OR值为6.066(95%CI:2.884-12.758,P0.001)。而rs10999776(CT)多态性联合吸烟对肺腺癌则无显著影响。结论核苷转运蛋白基因ENT3rs10999776多态性可能与肺鳞癌的发病风险相关,且与吸烟环境暴露存在一定的相互作用。     

IGF-1和IGFBP-3基因多态性与非吸烟女性肺癌关联研究

  目的   探讨胰岛素样生长因子-1（IGF-1）和胰岛素样生长因子结合蛋白-3（IGFBP-3）单核苷酸多态性与非吸烟女性肺癌发病的关系。   方法   采用TaqMan单核苷酸多态性分型技术,检测287例中国汉族女性肺癌患者和281例正常女性对照者IGF-1和IGFBP-3基因位点的基因型。   结果   IGF-1基因rs2946834位点的三种基因型（CC/CT/TT）在女性非吸烟肺癌患者和对照间的分布具有显著性差异（P < 0.001）,与TT基因型相比,CC基因型显著降低女性肺癌的发病风险（OR=0.28,95%CI:0.15~ 0.54）。另外,在非吸烟女性中,IGF-1（rs1520220）GG基因型可降低晚期肺癌发病风险（OR=0.30,95%CI:0.09~0.96）。   结论   IGF-1基因单核苷酸多态性可能与女性非吸烟肺癌的发病相关,这一结论有待于大样本以及功能学研究的进一步证实。      

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.     

P53 Arg72Pro and MDM2 SNP309 Polymorphisms Cooperate to Increase Lung Adenocarcinoma Risk in Chinese Female Non-smokers: A Case Control Study

Background: Cell cycle deregulation is a major component of carcinogenesis. The p53 tumor suppressorgene plays an important role in regulating cell cycle arrest, and mouse double minute 2 (MDM2) is a keyregulator of p53 activity and degradation. Abnormal expression of p53 and MDM2 occurs in various cancersincluding lung cancer. Methods: We investigated the distribution of the p53 Arg72Pro (rs1042522) and MDM2SNP309 (rs2279744) genotypes in patients and healthy control subjects to assess whether these single nucleotidepolymorphisms (SNPs) are associated with an increased risk of lung adenocarcinomas in Chinese female nonsmokers.Genotypes of 764 patients and 983 healthy controls were determined using the TaqMan SNP genotypingassay. Results: The p53 Pro/Pro genotype (adjusted OR = 1.55, 95% CI = 1.17–2.06) significantly correlated withan increased risk of lung adenocarcinoma, compared with the Arg/Arg genotype. An increased risk was also notedfor MDM2 GG genotype (adjusted OR = 1.68, 95% CI = 1.27–2.21) compared with the TT genotype. Combinedp53 Pro/Pro and MDM2 GG genotypes (adjusted OR = 2.66, 95% CI = 1.54–4.60) had a supermultiplicativeinteraction with respect to lung adenocarcinoma risk. We also found that cooking oil fumes, fuel smoke, andpassive smoking may increase the risk of lung adenocarcinomas in Chinese female non-smokers who carry p53or MDM2 mutant alleles. Conclusions: P53 Arg72Pro and MDM2 SNP309 polymorphisms, either alone or incombination, are associated with an increased lung adenocarcinoma risk in Chinese female non-smokers.     

TP63 Gene Polymorphisms,Cooking Oil Fume Exposure and Risk of Lung Adenocarcinoma in Chinese Non-smoking Females

Background: Genetic polymorphisms of TP63 have been suggested to influence susceptibility to lungadenocarcinoma development in East Asian populations. This study aimed to investigate the relationship betweencommon polymorphisms in the TP63 gene and the risk of lung adenocarcinoma, as well as interactions of thepolymorphisms with environmental risk factors in Chinese non-smoking females. Methods: A case-control studyof 260 cases and 318 controls was conducted. Data concerning demographic and risk factors were obtained foreach subject. The genetic polymorphisms were determined by Taqman real-time PCR and statistical analyseswere performed using SPSS software. Results: For 10937405, carriers of the CT genotype or at least one T allele(CT/TT) had lower risks of lung adenocarcinoma compared with the homozygous wild CC genotype in Chinesenonsmoking females (adjusted ORs were 0.68 and 0.69, 95%CIs were 0.48-0.97 and 0.50-0.97, P values were0.033 and 0.030, respectively). Allele comparison showed that the T allele of rs10937405 was associated with adecreased risk of lung adenocarcinoma with an OR of 0.78 (95%CI=0.60-1.01, P=0.059). Our results showed thatexposure to cooking oil fumes was associated with increased risk of lung adenocarcinoma in Chinese nonsmokingfemales (adjusted OR=1.58, 95%CI=1.11-2.25, P=0.011). However, we did not observe a significant interaction ofcooking oil fumes and TP63 polymorphisms. Conclusion: TP63 polymorphism might be a genetic susceptibilityfactor for lung adenocarcinoma in Chinese non-smoking females, but no significant interaction was found withcooking oil fume exposure.     

Associations of ERCC4 rs1800067 Polymorphism with Cancer Risk: an Updated Meta-analysis

Background: Results from previous studies concerning the association of ERCC4 rs1800067 polymorphismwith risk of cancer were inconsistent. To explore the exact relation with susceptibility, we conducted the presentmeta-analysis. Materials and Methods: Literature of electronic databases including PubMed, Web of Science,EMBASE, Wanfang and Chinese National Knowledge Infrastructure (CNKI) were systematically searched. ORsand their 95%CIs were used to assess the strength of associations between ERCC4 polymorphism and cancerrisk. Results: There was no significant association between ERCC4 rs1800067 AA or AG genotypes and overallrisk of cancer (AA vs. GG: OR=0.998, 95%CI=0.670-1.486, P=0.992; AG vs. GG: OR=0.970, 95%CI=0.888-1.061, P=0.508). A dominant genetic model also did not demonstrate significant association of (AA+AG)genotype carriers with altered risk of overall cancer (OR=0.985, 95%CI=0.909-1.068, P=0.719). In addition,no significant association was observed between A allele of ERCC4 rs1800067 A/G polymorphism and alteredcancer risk compared with G allele (OR=0.952, 95%CI=0.851-1.063, P=0.381). Subgroup analysis suggestedthat AA genotype carriers were significantly associated with decreased risk of glioma compared with wild-typeGG genotype individuals (OR=0.523, 95%CI=0.275-0.993, P=0.048). For subgroup of lung cancer, A allele ofERCC4 rs1800067 A/G polymorphism was significantly associated with decreased risk of lung cancer comparedwith G allele (OR=0.806, 95%CI=0.697-0.931, P=0.003). Conclusions: This meta-analysis indicated that ERCC4rs1800067 A/G polymorphism might not be associated with risk of overall cancer. However, individuals with theAA genotype were associated with significantly reduced risk of glioma compared with wild-type GG genotype;The A allele was associated with significantly reduced risk of lung cancer compared with G allele. Future largescalestudies performed in multiple populations are warranted to confirm our results.     

Association Between the hsa-mir-27a Variant and Breast Cancer Risk: a Meta-analysis

Introduction: Although a number of studies were published in the past several years on associations betweenhsa-mir-27a and cancer risk, the findings remain conflicting rather than conclusive. To derive a more precise effecton the association between SNP hsa-mir-27a rs895819 and breast cancer risk, we conducted a meta-analysis forthe first time. Materials and Methods: Through retrieval from PubMed for the period up to August 2012, a totalof four studies were identified with 3,287 cases and 4,298 controls for SNP hsa-mir-27a rs895819.We calculatedsummary odds ratio (ORs) and corresponding 95% confidence intervals (CIs) using a fixed effects model (whenthe heterogeneity was absent, P>0.10). Otherwise, the random-effects model was used. Results: We found thathsa-mir-27a rs895819 polymorphism also did not reveal any relationship with breast cancer susceptibility (AGversus AA: OR = 0.98; 95%CI, 0.73-1.32; GG versus AA: OR = 0.86; 95% CI, 0.72-1.03; AG/GG versus AA:OR = 0.92; 95% CI, 0.74-1.14), while significantly decreased risk was found among Europeans in AG versus AAand AG/GG versus AA models tested (AG versus AA: OR = 0.83; 95%CI, 0.72-0.97; GG versus AA: OR = 0.86;95% CI, 0.71-1.05; AG/GG versus AA: OR = 0.84; 95% CI, 0.75-0.94). Conclusion: These findings suggest thathsa-mir-27a rs895819 polymorphism may play an important role in breast cancer development.     

中国汉族人群DNA聚合酶ε基因POLE1单核苷酸多态性与肺癌易感性的关系

目的：探讨人类DNA聚合酶ε基因POLE1单核苷酸多态性（SNP）与肺癌易感性间的关系。方法：采用病例对照研究方法,选择经组织学确诊的肺癌患者462例,以及相同地区,性别年龄频数匹配的对照466例,针对经筛选的5个SNP进行基因型检测,通过统计分析研究基因频率与肺癌风险的关系,并探讨吸烟在其中的影响。结果：病例组rs5744738基因频率分布高于对照组（P〈0.05）。A/A纯合变异携带人群的患肺癌风险显著降低（校正OR=0.47,95%CI：0.25～0.91）。在分层分析中,60岁以上人群患肺癌的风险显著下降（校正OR=0.28,95%CI：0.09～0.91）,无患肿瘤家族史人群下降到0.42倍（校正OR=0.42,95%CI：0.19～0.90）。随着吸烟量的增加,G/G或G/A基因型人群肺癌风险显著升高。rs5744962变异位点（T→C）可提高非吸烟人群的患肺癌风险至1.75倍（95%CI：1.02～3.00）。结论：选取的5个人类POLE1基因SNP的多态性可能与中国汉族人群肺癌遗传易感性有关,在携带rs5744738及与之紧密连锁的rs4883545、rs5744873突变纯合基因的人群,患肺癌的风险显著降低,而携带rs5744962、rs5745047突变基因位点的非吸烟人群患肺癌的风险升高。