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。     

Association between the HSPA1B ±1267A/G Polymorphism and Cancer Risk: a Meta-analysis of 14 Case-Control Studies

Background: Previous epidemiological studies have suggested a potential role of the HSPA1B±1267A/G polymorphism in risk of developing cancer. However, the results were inconsistent. Therefore, we performed this meta-analysis to summarize the possible association with cancer risk. Materials and Methods: We retrieved relevant articles from PubMed, EMBASE, ISI Web of Science, Chinese Biomedical Literature and Chinese National Knowledge Infrastructure. Studies were selected using specific criteria. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess those associations. All analyses were performed using STATA software. Results: Fourteen case-control studies, including 1, 834 cancer cases and 2, 028 controls were included in this meta-analysis. Overall, the results indicated that the G allele of HSPA1B gene ±1267A/G was significantly associated with an increased cancer risk in all genetic models (G vs A: OR=1.51, 95%CI 1.17-1.95, p=0.001; GG vs AA: OR=2.93, 95%CI 1.50-5.74, p=0.002; AG vs AA: OR=1.48, 95%CI 1.10-1.98, p=0.009; GG/AG vs AA: OR=1.69, 95%CI 1.22-2.33, p=0.001; GG vs AG/AA: OR=2.31, 95%CI 1.24-4.32, p=0.009). In the subgroup analysis stratified by ethnicity, a significant association was identified in Caucasians (G vs A: OR=1.35, 95%CI 1.08-1.69, p=0.008; GG/AG vs AA: OR=1.36, 95%CI 1.09-1.70, p=0.007), but not in Asians. In the stratified analysis by cancer types, individuals with the G allele showed an increased risk of hepatocellular carcinoma compared with carriers of the A allele (OR=2.40, 95%CI 1.47-3.91, p< 0.001). Inversely, individuals with the GG genotype showed a decreased risk of gastric cancer compared with carriers of the AG/GG genotypes (GG vs AG/AA: OR=0.39, 95%CI 0.20-0.70, p=0.007). Conclusions: This meta-analysis suggests associations between the HSPA1B ±1267A/G polymorphism and risk of cancer. However, this association might be Caucasian-specific and the G allele of this polymorphism probably increases risk of hepatocellular carcinoma while decreasing risk of gastric cancer. Further well-designed studies based on larger sample sizes are needed to validate these findings.     

The DNA Repair Gene ERCC6 rs1917799 Polymorphism is Associated with Gastric Cancer Risk in Chinese

Objective: Excision repair cross-complementing group 6 (ERCC6) is a major component of the nucleotideexcision repair pathway that plays an important role in maintaining genomic stability and integrity. Severalrecent studies suggested a link of ERCC6 polymorphisms with susceptibility to various cancers. However, therelation of ERCC6 polymorphism with gastric cancer (GC) risk remains elusive. In this sex- and age- matchedcase-control study including 402 GC cases and 804 cancer-free controls, we aimed to investigate the associationbetween a potentially functional polymorphism (rs1917799 T>G) in the ERCC6 regulatory region and GC risk.Methods: The genotypes of rs1917799 were determined by Sequenom MassARRAY platform and the status ofHelicobacter pylori infection was detected by enzyme-linked immunosorbent assay. Odd ratios (ORs) and 95%confidential interval (CI) were calculated by logistic regression analysis. Results: Compared with the commonTT genotype, the ERCC6 rs1917799 GG genotype was associated with increased GC risk (adjusted OR=1.46,95%CI: 1.03-2.08, P=0.035). When compared with (GT+TT) genotypes, the GG genotype also demonstrateda statistical association with increased GC risk (adjusted OR=1.38, 95%CI: 1.01-1.89, P=0.044). This was alsoobserved for the male subpopulation (GG vs. TT: adjusted OR=1.71, 95%CI: 1.12-2.62, P=0.013; G allele vs.T allele: adjusted OR=1.32, 95%CI: 1.07-1.62, P=0.009). Genetic effects on increased GC risk tended to beenhanced by H. pylori infection, smoking and drinking, but their interaction effects on GC risk did not reachstatistical significance. Conclusions: ERCC6 rs1917799 GG genotype might be associated with increased GCrisk in Chinese, especially in males.     

基质金属蛋白酶-7启动子（-181A/G）基因多态性与消化道肿瘤易感性的Meta分析

目的:评价基质金属蛋白酶-7（MMP-7）启动子（-181A/G）基因多态性与消化道肿瘤易感性的关系。方法:计算机检索各大医学数据库,对2017年7月前公开发表的关于MMP-7（-181A/G）基因多态性的病例对照研究进行Meta分析。结果:共19项研究符合纳入标准,累计病例数3 296例,对照组4 362例。从总体效应量分析,除隐性基因模型外,MMP-7（-181A/G）基因多态性与消化道肿瘤易感性有关,差异有统计学意义（G vs A,OR=1.25,95%CI:1.09~1.43,P=0.00;GG/AG vs AA,OR=1.25,95%CI:1.12~1.39,P=0.00;GG vs AA,OR=1.42,95%CI:1.03~1.94,P=0.03;AG vs AA,OR=1.21,95%CI:1.07~1.35,P=0.00）。进一步分层分析表明MMP-7（-181A/G）基因多态性与胃癌、食管鳞癌的易感性有关,但并不能确定是否增加结直肠癌的发生风险。按照种族进行亚组分析,提示MMP-7（-181A/G）基因多态性能够显著增加亚洲人群的消化道肿瘤的发生率。结论:MMP-7（-181A/G）基因多态性与消化道肿瘤有关,G等位基因增加了食管鳞癌、胃癌的发生风险。     

Association between IL-27 Gene Polymorphisms and Cancer Susceptibility in Asian Population: A Meta-Analysis

Background: Interleukin 27 (IL-27) has potent antitumor activity. Several epidemiological studies have designated that genetic variants of the IL-27 gene may contribute to various cancer susceptibility, but the data were inconclusive.  Objective: The current meta-analysis aimed to address the association between IL-27 rs153109, rs17855750, and rs181206 polymorphisms and the risk of cancer. Data Sources: Our team has selected eligible studies up to May 1, 2020, from several electronic databases, including Web of Science, PubMed, Scopus, and Google Scholar databases. Results: Our meta-analysis revealed that the carriers rs153109 A>G polymorphism in the IL-27 gene have higher risks of diseases in the heterozygous (OR=1.26, 95%CI=1.06-1.49, P=0.007, AG vs AA), homozygous (OR=1.18, 95%CI=1.01-1.37, p=0.33, GG vs AA), dominant (OR=1.25, 95%CI=1.07-1.47, P=0.006, AG+GG vs AA), and allele (OR=1.15, 95%CI=1.04-1.27, P=0.008, G vs A) genetic models. Stratified analysis by cancer type indicated that this variant was significantly associated with gastrointestinal cancer, colorectal cancer and breast cancer. The findings did not support an association between rs17855750 T>G, rs181206 T>C polymorphisms of IL-27 and cancer risk. Conclusion: the current study findings suggest that IL-27 rs153109 polymorphism significantly increased the risk of cancer susceptibility. Well-designed replication in a larger independent genetic association study with larger sample sizes in diverse ethnicities is required to verify the findings.     

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.     

EGF61基因多态性与胃癌易感性Meta分析

目的：探讨表皮细胞因子（epidermalgrowthfactor,EGF）基因61A／G多态性与胃癌风险的相关性。方法：计算机检索PubMed、EMABSE、CJFD、CBM、CNKI、VIP及万方数据库,检索时间截至2013-0l-01,收集关于EGF 6lAG;基因多态性与胃癌易感性的病例＝对照研究。由2名评价者按照纳入和排除标准独立选择文献,提取资料,评价质量,采用RevMan5．1和Stata12．0软件进行Meta分析。结果：共纳入5个病例-对照研究,1388例患者和2642例对照。与基因型AA比较,AG＋GG和GG基因型可增加罹患胃癌风险,AG＋GGvsAA的OR=1．28,95％CI：1．03～1．59,Z=2．19,P=0．03;GGvsAA的OR—1．34,95％C1：1．05～1．70,Z=2．36,P=0．02。AG基因型与胃癌风险无关,AGvsAA的OR—1．22,95％CI：0．97～1．53,Z=1．68,P=0．09;与等位基因A比较,等位基因G可增加罹患胃癌风险．OR=1．27,95％CI：1．13～1．43,Z=3．98,P〈0．0001。人种和对照来源的亚组分析结果显示,在中国人、日本人群及医院来源的对照组中,EGF基因多态性与胃癌风险存在相关性。其中,中国人GGWSAG＋AA的OR=1．3／1,95％CI：1．11～1．61,Z=3．04,P=0．002;GGvsAA的OR=1．55,95％CI：1．09～2．20,Z=2．44,P=0．01。日本人GGvsAA的OR=1．68,95％CI：1．O5～2．69,Z＝2．16,P＝0．03。医院来源GGVSAG＋AA的0R_=1．54．95％C1：1．19～2．00,Z＝3．29,P＝0．001;GG圳AA的OR=1．81,95％CI：1．14～2．88,Z＝2．53,P＝0．01．结论：EGF61A／G基因多态性与胃癌易感性相关,等位基因（j与基因型AG＋GG和GG均可增加罹患胃癌的风险。     

Association Between the Pre-mir-218 Polymorphism and Cancer Risk in the Chinese Population: a Meta-Analysis

Background: Several recent studies have explored associations between pre-mir-218 polymorphism(rs11134527) and cancer risk. However, published data are still inconclusive. To obtain a more precise estimationof the relationship in the Chinese population, we carried out a meta-analysis for the first time. Materials andMethods: Through retrieval from the PubMed, Medline, Embase, Web of Science databases, China NationalKnowledge Infrastructure and the Chinese BioMedical Literature Database, a total of four studies wereanalyzed with 3,561 cases and 3,628 controls for SNP pre-mir-218 rs11134527. We calculated odds ratios (ORs)and 95% confidence intervals (95%CIs) to explore the strength of associations. Results: The results showedthat the rs11134527 polymorphism was associated with decreased cancer risk in GG versus AA and GG versusAA+AG models tested ( GG vs AA: OR=0.82, 95%CI: 0.71-0.94; GG vs AA+AG: OR=0.84, 95%CI: 0.74-0.96),and significantly decreased cervical cancer risk was observed in GG versus AA and GG versus AA+AG models(GG vs AA: OR=0.79, 95%CI: 0.66-0.94; GG vs AA+AG: OR=0.80, 95%CI: 0.68-0.94). However, no significantassociation between the rs11134527polymorphism and hepatocellular carcinoma risk was observed in allcomparison models tested (AG vs AA: OR=0.94, 95%CI: 0.79-1.11; GG vs AA: OR=0.88, 95%CI: 0.70-1.10;GG+AG vs AA: OR=0.92, 95%CI: 0.79-1.08; GG vs AA+AG: OR=0.91, 95%CI: 0.75-1.11). Conclusion: Thefindings suggest that pre-miR-218 rs11134527 polymorphism may have some relation to cancer development inChinese. However, well-designed studies with larger sample size and more detailed data are needed to confirmthese conclusions.     

Positive Association Between miR-499A>G and HepatocellularCarcinoma Risk in a Chinese Population

A case-control study of the association of miR-499A>G rs3746444 with risk of hepatocellular carcinoma(HCC)was conducted. Patients with HCC and healthy control subjects were recruited for genotyping of miR-499A>G using duplex polymerase-chain-reaction with confronting-two-pair primer(PCR-RFLP) analysis. TheMiR-499 GG genotype was associated with a decreased risk of HCC as compared with the miR-499 AA genotype(adjusted OR=0.74, 95%CI=0.24-0.96). Similarly, the GG genotype showed a 0.45-fold decreased HCC risk in arecessive model. The MiR-499 G allele was significantly associated with decreased risk of HCC among patientsinfected with HBV in a dominant model (OR=0.09, 95%CI= 0.02-0.29). In conclusion, the MiR-499A>G rs3746444polymorphism is associated with HCC risk in the Chinese population, and may be useful predictive marker forCAD susceptibility.     

Association of mir-499 and mir-149 Polymorphisms with Cancer Risk in the Chinese Population: Evidence from Published Studies

Meta-analyses have shown that microRNA polymorphisms have variable effects in different population. Yet,no meta-analysis investigated the association of two common polymorphisms of miRNA, mir-499 rs3746444polymorphism and mir-149 rs2292832 polymorphism, with cancer risk in the Chinese population. We searchedthe PubMed, Web of Knowledge, MEDLINE, CNKI databases, as well as Cochrane library, updated on December31, 2012 for assays regarding cancer risk association with these two common polymorphisms in the presentmeta-analysis. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to explore the strengthof associations. The results showed that rs3746444 polymorphism was associated with increased cancer risk(dominant model: GG/AG vs. AA: OR = 1.43, 95% CI: 1.14-1.80; recessive model: GG vs. AG/AA: OR = 1.54,95% CI: 1.04-2.30; homozygote model: GG vs. AA: OR = 1.69, 95% CI: 1.10-2.60; heterozygote model: AG vs.AA: OR = 1. 35, 95% CI: 1.09-1.67), and rs3746444 was associated with liver cancer in the subgroup of cancertypes. For the rs2292832 polymorphism, the results showed no significant risk association in both overall pooledanalysis and subgroup of cancer types, smoking status, gender and tea drinking status in the Chinese population.This meta-analysis suggested that the rs3746444 GG genotype is associated with increased cancer risk, especiallyliver cancer, while the rs2292832 polymorphism showed no association with cancer risk in Chinese.     

Association Analysis of GSTP1-rs1695 Polymorphism with the Risk of Oral Cancer: A Literature Review,an Updated Meta- Analysis,and a Structural Assessment

Background: This study aimed to investigate the association of rs1695 polymorphism in glutathione S-transferase P1 (GSTP1) with risk of oral cancer in a meta-analysis which was followed by a bioinformatics approach. Materials and methods: Related articles were collected through a systematic search in PubMed, Google Scholar, and EMBASE databases up to June 2022 and then screened. Finally, seven studies, including 1249 cases of oral cancer and 1861 healthy individuals, were included in our meta-analysis. Seven different genetic models including G vs. A, GG+GA vs. AA, GG vs. GA+AA, GA vs. GG+AA, GG vs. GA, GG vs. AA, and GA vs. AA were used for the calculation of odds ratio and 95% confidence interval in order to assess the association between GSTP1-rs1695 polymorphism and oral cancer risk. Also, the ethnicity-based stratified analyses were performed using the seven mentioned models. Some bioinformatics software was used to investigate the effect of rs1695 polymorphism on the primary, secondary, and three-dimensional structure of GSTP1. Results: Our results showed that rs1695 polymorphism was not associated with the risk of oral cancer in any seven genetic models (G vs. A: OR= 0.9331, 95%CI= 0.6339-1.3737, P= 0.726; GG vs. GA+AA: OR= 0.9112 , 95%CI= 0.6865-1.2093, P= 0.520; GG+GA vs. AA: OR= 0.9006, 95%CI= 0.5522-1.4690, P= 0.675; GA vs. GG+AA: OR= 0.8732, 95%CI= 0.5763-1.3230, P= 0.522; GG vs. AA: OR= 0.9516, 95%CI= 0.5503-1.6456, P= 0.859; GG vs. GA: OR= 1.0645, 95%CI= 0.7891-1.4359, P= 0.683; GA vs. AA: OR= 0.8825, 95%CI= 0.5499-1.4162, P= 0.604). Also, we did not observe any significant associations in ethnicity-based stratified analyses. But bioinformatics studies have shown that this polymorphism can alter the physicochemical properties and secondary structure of the protein. Conclusions: Based on results, the rs1695 polymorphism could not be considered a risk factor for oral cancer.     

shRNA靶向沉默ST8SIA4基因表达对乳腺癌细胞侵袭和迁移的影响

目的 探讨短发夹RNA（shRNA）靶向沉默α2, 8-唾液酸转移酶4（ST8SIA4）表达对乳腺癌BT549细胞侵袭、迁移的影响。方法 采用实时荧光定量PCR（QPCR）和Western blotting检测乳腺癌BT549细胞和乳腺正常上皮MCF-10A细胞中ST8SIA4 mRNA和蛋白水平。采用LipofectamineTM2000向BT549细胞随机转染成功构建的靶向沉默ST8SIA4表达的shRNA载体片段（沉默组）或无义shRNA片段（对照组）,转染48 h后采用QPCR检测ST8SIA4 mRNA水平,Western blotting检测ST8SIA4、磷酸化丝／苏氨酸蛋白激酶（p-Akt）、神经纤毛蛋白2（NRP2）和肿瘤坏死因子-α（TNF-α）的表达情况,Transwell实验和划痕实验分别检测细胞的侵袭和迁移能力。结果 与MCF-10A细胞相比,BT549细胞的ST8SIA4 mRNA和蛋白水平均升高（P＜0.05）。转染48 h后,沉默组的ST8SIA4 mRNA和蛋白水平分别为0.19±0.02和0.13±0.02,均低于对照组的0.98±0.11和0.52±0.05（P＜0.05）;沉默组的侵袭细胞数、迁移率及p-Akt、NRP2和TNF-α蛋白相对表达量分别为（39.5±4.2）个、（16.9±1.3）％、0.22±0.03、0.31±0.04和0.27±0.06,均低于对照组的（91.3±8.5）个、（38.4±3.9）％、0.58±0.07、0.55±0.05和0.46±0.05,差异有统计学意义（P＜0.05）。结论 ST8SIA4基因在乳腺癌BT549细胞中高表达,沉默其表达可抑制侵袭和迁移过程,可能与上调p-Akt、NRP2和TNF-α蛋白表达有关。     

Role of DNA Repair-related Gene Polymorphisms in Susceptibility to Risk of Prostate Cancer

Aim: We assessed the association between genetic variants of XPG, XPA, XPD, CSB, XPC and CCNH inthe nucleotide excision repair (NER) pathway and risk of prostate cancer. Methods: We genotyped the XPG,XPA, XPD, CSB, XPC and CCNH polymorphisms by a 384-well plate format on the MassARRAY® platform.Multivariate logistical regression analysis was used to assess the associations between the six gene polymorphismsand risk of prostate cancer. Results: Individuals carrying the XPG rs229614 TT (OR=2.01, 95%CI=1.35-3.27)genotype and T allele (OR=1.73, 95%CI=1.37-2.57) were moderately significantly associated with a higher riskof prostate cancer. Subjects with XPD rs13181 G allele had a marginally increased risk of prostate cancer, withadjusted OR(95%CI) of 1.53 (1.04-2.37). Moreover, individuals carrying with CSB rs2228526 GG genotype(OR=2.05, 95% CI=1.23-3.52) and G allele (OR=1.56, 95%CI=1.17-2.05) were associated with a higher increasedrisk of prostate cancer. The combination genotype of XPG rs2296147 T and CSB rs2228526 G allele hadaccumulative effect on the risk of this cancer, with an OR (95% CI) of 2.23(1.37-3.59). Conclusions: Our studyindicates that XPG rs2296147 and CSB rs2228526 polymorphisms are significantly associated with increasedrisk of prostate cancer, and that combination of XPG rs2296147 T allele and CSB rs2228526 G allele is stronglyassociated with an increased risk.     

B7-H4基因多态性与黑龙江省乳腺癌易感性的研究

 目的　探讨B7-H4基因 rs10754339、rs10801935和rs3738414等SNP位点多态性与黑龙江省妇女乳腺癌发病风险的相关性。方法　利用聚合酶链反应限制性片段长度多态性（PCR-RFLP）技术,对287例黑龙江省汉族女性乳腺癌患者和305名健康对照者进行B7-H4基因位点多态性检测,并确定常见单体型（频率≥1 %）,分析患者与健康对照差异,进而确定该基因与黑龙江省汉族妇女乳腺癌的相关性。结果　B7-H4基因3'-UTR区rs10754339位点的G等位基因、AA、AG基因型发生频率在乳腺癌组和健康对照组间差异有统计学意义（P＝0.030,OR 1.359,95 % CI 1.030～1.794;P＝0.018,OR 0.671,95 % CI 0.482～0.935;P＝0.029,OR 1.455,95 % CI 1.038～2.038）。5'-UTR区rs3738414位点的A等位基因、GG基因型和AG基因型发生频率在乳腺癌患者和健康对照组之间差异有统计学意义（P＝0.0008,OR 0.604,95 % CI 0.455～0.803;P＝0.001,OR 1.804,95 % CI 1.289～2.253;P＝0.005,OR 0.612,95 % CI 0.435～0.862）。AAA单体型和GAG单体型发生频率在乳腺癌患者和健康对照组之间差异有统计学意义（P＝0.0015,OR 0.614,95 % CI 0.456～0.828;P＝0.0003,OR 1.954,95 % CI 1.363～2.803）。结论　B7-H4基因多态性与黑龙江省汉族妇女乳腺癌发病存在一定相关性。     

Association between the Interleukin-17A -197G>A (rs2275913) Polymorphism and Risk of Digestive Cancer

Interleukin-17A (IL-17A) is a multifunctional cytokine which plays a crucial role in the initiation andprogression of cancer. To date, several studies have investigated associations between IL-17A -197G>A (rs2275913)polymorphism and digestive cancer risk, but the results remain conflicting. We here aimed to confirm the roleof this single nucleotide polymorphism (SNP) in susceptibility to digestive cancer through a systemic reviewand meta-analysis. Ten eligible case-control studies were identified by searching electronic databases, involving3,087 cases and 3,815 controls. Odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were usedto estimate the strength of the association. The results of overall analyses indicated that the variant A allele wasassociated with an increased risk of digestive cancer (AA vs GG: OR=1.51, 95%CI=1.18-1.93; AA vs GG+GA:OR=1.45, 95%CI=1.12-1.87; A vs G: OR=1.21, 95%CI=1.05-1.39). In subgroup analysis stratified by specificcancer type, elevated risk among studies of gastric cancer was found (AA vs GG: OR=1.68, 95%CI=1.24-2.28;AA vs GG+GA: OR=1.62, 95%CI=1.16-2.26; A vs G: OR=1.23, 95%CI=1.04-1.46). According to ethnicity, therewas evidence in the Asian populations for an association between this polymorphism and cancer risk (GA vs GG:OR=1.19, 95%CI=1.05-1.36; AA vs GG: OR=1.56, 95%CI=1.15-2.12; AA+GA vs GG: OR=1.28, 95%CI=1.13-1.44; AA vs GG+GA: OR=1.42, 95%CI=1.01-2.00; A vs G: OR=1.24, 95%CI=1.08-1.44), while in the Caucasianpopulations an association was found in the recessive model (AA vs GG+GA: OR=1.62, 95%CI=1.17-2.24). Inconclusion, the results of this meta-analysis suggest that the IL-17A -197G>A polymorphism contributes to anincreased risk of human digestive cancer, both in the Asian and Caucasian populations and especially for gastriccancer.     

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。     

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。      

Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists

Exposure to ionizing radiation has been consistently associated with increased risk of female breast cancer. Although the majority of DNA damage caused by ionizing radiation is corrected by the base-excision repair pathway, certain types of multiple-base damage can only be repaired through the nucleotide excision repair pathway. In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels of ionizing radiation (858 cases, 1,083 controls), we examined whether risk of breast cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526. Of the 6 ERCC variants examined, only ERCC5 rs17655 showed a borderline main effect association with breast cancer risk (OR(GC) = 1.1, OR(CC) = 1.3; p-trend = 0.08), with some indication that individuals carrying the C allele variant were more susceptible to the effects of occupational radiation (EOR/Gy(GG) = 1.0, 95% CI = <0, 6.0; EOR/Gy(GC/CC) = 5.9, 95% CI = 0.9, 14.4; p(het) = 0.10). ERCC2 rs13181, although not associated with breast cancer risk overall, statistically significantly modified the effect of occupational radiation dose on risk of breast cancer (EOR/Gy(AA) = 9.1, 95% CI = 2.1-21.3; EOR/Gy(AC/CC) = 0.6, 95% CI = <0, 4.6; p(het) = 0.01). These results suggest that common variants in nucleotide excision repair genes may modify the association between occupational radiation exposure and breast cancer risk.     

Tumor Necrosis Factor-α 238 G/A Polymorphism and Risk of Hepatocellular Carcinoma: Evidence from a Meta-analysis

Background: Tumor necrosis factor-α (TNF-α) plays a very important role in the development and progressionof cancer. Many epidemiological studies have evaluated associations between the TNF-α 238 G/A polymorphismand hepatocellular carcinoma (HCC) risk, but the published data are inconclusive. Therefore, we performed thepresent meta-analysis. Methods: Electronic searches of several databases were conducted for all publicationson the association between TNF-α 238 G/A polymorphism and HCC through July 2012. Asummary odds ratio(OR) with its 95% confidence interval (CI) were calculated to evaluate the strength of this association. Results:Eleven case-control studies with a total of 1,572 HCC cases and 1,875 controls were finally included in thismeta-analysis. Overall, the TNF-α 238 G/A polymorphism was significantly associated with increased risk ofhepatocellular carcinoma in three genetic comparison models (For A versus G: OR 1.32, 95%CI 1.04-1.69, P =0.02, I2 = 40%; for AG versus GG: OR 1.32, 95%CI 1.02-1.71, P = 0.03, I2 = 40%; for AA/AG versus GG: OR1.33, 95%CI 1.03-1.72, P = 0.03, I2 = 41%) when all studies were pooled. Subgroup analysis by ethnicity furthershowed that there was a significant association between the TNF-α 238 G/A polymorphism and risk of HCC inAsians under three genetic comparison models (For A versus G: OR 1.30, 95%CI 1.00-1.68, P = 0.05, I2 = 45%for AA/AG versus GG: OR 1.31, 95%CI 1.00-1.71, P = 0.05, I2 = 46%). Conclusions: This meta-analysis providedconvincing evidence that the TNF-α 238 G/A polymorphism is associated with increased susceptibility to HCC.However, more well-designed studies with large sample size are needed to validate this association in Caucasians.