E2F1基因多态性与宫颈癌风险关联性研究

摘 要：［目的］ 选取E2F1基因中rs3213172、rs3213173和rs3213176三个多态性位点,研究其与宫颈癌的关联性。［方法］ 选取2016—2019年贵州省人民医院肿瘤科确诊为宫颈癌的149例患者为病例组,选取同期同院参加正常体检的健康女性206人为对照组。采用通用探针法对E2F1基因中的多态位点rs3213172、rs3213173和rs3213176进行基因分型,研究这些多态性位点的等位基因、基因型及构建的单倍型在对照组和病例组中分布频率的差异。［结果］ E2F1基因中的多态性位点rs3213172 CT基因型在病例组和对照组间分布频率差异有统计学意义,可能是宫颈癌发生的危险因素 (OR=1.57,95%CI：1.00～2.48);多态位点rs3213173和rs321317的等位基因和基因型在病例组和对照组中的分布频率差异无统计学意义（P>0.05）。单倍型分型结果显示,rs3213172-rs3213173-rs3213176的单倍型C-T-G可能是宫颈癌发生的保护性因素（OR=0.66,95%CI：0.47～0.93）;单倍型T-T-G可能是宫颈癌发生的风险因素（OR=2.49,95%CI：1.35～4.59）。［结论］ E2F1基因中的多态位点rs3213172可能与宫颈癌的发病风险有关。     

FGFR4基因多态性与 Luminal 型乳腺癌临床病理特征的相关性

目的：探讨 FGFR4基因多态性与 Luminal 型乳腺癌临床病理指标的关系,为临床个体化治疗提供理论依据。方法：采用多重单碱基延伸（Snapshot）SNP 分型技术,检测415例 Luminal 型乳腺癌患者2个 FGFR4基因多态位点。分析这些多态位点与 Luminal 型乳腺癌临床病理特征的关系。结果：在415例 Luminal 型乳腺癌中,FGFR4基因 rs1966265多态频率分布：纯合野生 AA 型为23．4％、杂合 GA 型为53．7％、纯合突变 GG型为22．9％;rs351855多态频率分布：纯合野生 GG 型为28．2％、杂合 GA 型为53．7％、纯合突变 AA 型为18．1％。两个多态位点与 Luminal 型乳腺癌临床分期、肿瘤大小、组织学分级、淋巴结转移无相关性（P ＞0．05）。结论：FGFR4基因 rs1966265和 rs351855位点多态性与 Luminal 型乳腺癌的临床病理特征之间无明显关联。     

超氧化物歧化酶2基因rs4880位点单核苷酸多态性与食管癌易感性的关系

目的探讨超氧化物歧化酶2（SOD2）基因rs4880位点单核苷酸多态性与食管鳞状细胞癌发生的关系。方法 收集2013年10月至2015年11月经病理确诊的380例食管鳞状细胞癌患者（食管癌组）的外周静脉血用基质辅助激光解吸／电离飞行时间质谱法（MALDI TOF MS）分析SOD2 rs4880的基因分型,同时收集380例非肿瘤患者（对照组）的外周静脉血进行对比。采用Hardy-Weinberg平衡分析SOD2 rs4880的遗传平衡情况,采用两分类Logistic多元回归比较两组SOD2 rs4880基因型和等位基因的分布差异,并计算比值比（OR）及其95％可信区间（95％CI）来评价发生食管鳞状细胞癌的相对风险。结果 食管癌组和对照组的SOD2 rs4880基因型频率均符合Hardy-Weinberg平衡。食管癌组和对照组的SOD2 rs4880 T＞C 3种基因型TT、TC、CC的分布频率分别为71.84％、22.37％、3.68％和74.74％、20.79％、3.42％,两组基因型分布频率的差异无统计学意义（P＞0.05）。两分类Logistic多元回归分析的结果显示：（1）与携带SOD2 rs4880 TT基因型的个体相比较,SOD2 rs4880 TC基因型、CC基因型发生食管癌的风险升高1.12倍,但差异无统计学意义（OR=1.12,95%CI：0.79～1.59,P＞0.05;OR=1.12,95%CI：0.52～2.43,P＞0.05）;（2）隐性模型中相对于TT+TC基因型,携带纯合突变CC基因型发生食管癌的风险升高1.09倍,差异无统计学意义（OR=1.09,95%CI：0.51～2.36,P＞0.05）;（3）经调整年龄、性别、吸烟及饮酒状态后,与携带SOD2 rs4880 TT基因型的个体相比较,携带SOD2 rs4880 CC基因型发生食管癌的风险升高1.10倍,差异亦无统计学意义（OR=1.10,95%CI：0.50～2.39,P＞0.05）。结论 SOD2 rs4880位点基因多态性可能不是食管鳞状细胞癌发生的易感因素,需要进一步扩大样本量予以证实。     

PD-1基因多态位点rs2227982和rs10204525与肺癌关联性分析

目的:PD-1基因是肿瘤免疫调节的关键靶点,本研究探讨PD-1基因的多态性位点（rs2227982 和rs10204525）与肺癌发生的关系。方法:应用病例对照研究的方法,收集肺癌患者302例和健康对照320例,采用Taqman Genotyping方法对收集的样本进行基因分型,并分析其与临床特征关系。结果:发现携带rs2227982 C等位基因,增加肺癌发病风险［OR=1.31,95%CI（1.03~1.64）］（P=0.019）,基因型分析发现在相加性模型(additive model)［OR=1.30,95%CI（1.04~1.62）］和隐性模型(recessive model)［OR=0.62,95%CI（0.42~0.97）］中与肺癌发生具有相关性。进一步通过调整吸烟、年龄和饮酒的影响后,rs2227982基因型仍与肺癌发生显著相关［OR=1.38,95%CI（1.08~1.77）］,P＜0.001。但rs2227982基因型与肺癌的病理类型和临床分期无关联,研究结果未发现rs10204525基因型与肺癌发生相关。结论:PD-1基因多态性与肺癌发生相关,rs2227982-CC基因型人群的肺癌发病率高于rs2227982-CT和rs2227982-TT基因型,通过多中心及大样本的验证,可作为潜在的遗传易感性分子标记。     

Galectin-3基因多态性与宫颈癌易感性和预后的关系

目的探讨Galectin-3基因多态性与宫颈癌易感性和预后的关系。方法选取2010年1月至2014年3月海南医学院附属医院妇科收治的宫颈癌患者120例为观察组,120例健康人群为对照组,用聚合酶链反应限制性片段长度多态性(PCR-RFLP)方法对Galectin-3基因rs4652位点进行基因分型。结果携带CC+CA型患者罹患宫颈癌的风险增加,等位基因C为危险基因,且CC+CA型患者5年生存率低。结论 Galectin-3基因rs4652位点等位基因C是罹患宫颈癌的危险基因,并影响预后复发。     

CYP1B1基因rs1056836位点多态性与新疆维吾尔族乳腺癌易感性的研究

目的 探讨CYP1B1基因rs1056836单核苷酸位点多态性与新疆维吾尔族乳腺癌易感性的关系。方法 应用聚合酶链反应-限制片段长度多态性（PCR-RFLP）检测125例维吾尔族女性乳腺癌患者（乳腺癌组）和160例体检的健康维吾尔族女性（对照组）CYP1B1基因rs1056836位点多态性,分析该位点多态性在不同群体中的分布情况。采用问卷调查和病例查询的方法收集乳腺癌相关危险因素的资料,用Logistic回归模型分析rs1056836位点多态性与乳腺癌患病风险的相对危险度。结果 CYP1B1基因rs1056836位点中存在CC、CG、GG 3种基因型,其在乳腺癌组和健康女性对照组中的分布频率分别为432％、512％、5.6％和60.6％、34.4％、5.0％,两组基因型分布的差异有统计学意义（P＜0.05）;乳腺癌组C、G等位基因的分布频率分别为68.8％、31.2％,对照组分别为77.8％、22.2％,差异有统计学意义（P＜0.05）。Logistic回归模型分析显示携带CC基因型维吾尔族女性的乳腺癌发病风险降低。乳腺癌相关危险因素的分层分析显示初潮早、有肿瘤家族病史、未绝经妇女中携带CG、GG基因型者乳腺癌患病风险明显增加。结论 CYP1B1基因rs1056836位点多态性与维吾尔族乳腺癌的发生有关,其突变基因型增加了维吾尔族女性乳腺癌的患病风险。     

miR-15家族基因多态性及表达与食管鳞癌发生的研究

摘 要：［目的］ 通过病例对照设计来评估miR-15家族基因相关SNPs及其表达与食管鳞癌发生风险的关联。［方法］ 从2017年10月至2018年6月于河南省林州市肿瘤医院就诊患者中,选取食管癌新发患者43例为病例组,选取同期在当地医院参加食管癌早诊早治筛查项目的59名健康人群为对照组。对miR-15家族（miR-15a、miR-15b、 miR-16、miR-195和miR-497）中miRNAs基因上的10个单核苷酸多态性（single nucleotide polymorphisms,SNPs）位点（rs1022960、rs10936201、rs11078662、rs14309、rs1451761、rs2066557、rs2740545、rs412999、rs7998223、rs9535416）与食管鳞癌发生风险进行关联研究。同时,对miR-16-5p在食管癌患者血清中的表达差异性进行测定。采用χ2检验比较各SNPs位点基因型在病例组和对照组的分布,用秩和检验分析两组间miR-16-5p表达水平的差异;对单因素分析有统计学差异的变量采用多因素的Logistic回归进行校正。［结果］ 去除检测不合格的位点,最终纳入6个SNPs,各位点的基因型频率分布在病例组和对照组间差异均无统计学差异（P>0.05）,食管鳞癌患者血清中miR-16-5p的表达量高于对照组(P＜0.001)。［结论］ miR-15家族中miR-16在食管鳞癌患者血清中高表达,但未发现候选的miRNAs多态位点与食管鳞癌发生风险相关。     

CYP1A1和GSTMI基因多态性及其对个体肺癌易感性的联合效应:meta分析

背景与目的 谷胱甘肽转移酶M1(glutathione S-transferase MI,GSTM1)和细胞色素P4501A1(cytochrome P450A1,CYP1A1)均存在基因多态性,并且对肺癌发病风险有一定的影响,两者联合作用对肺癌发病风险的影响尚无确切定论.本研究旨在探讨CYPIAI和GSTMI基因多态性及其联合效应与肺癌危险性的关系.方法 在PubMed数据库、EMBASE数据库、中国生物医学文献数据库(china biology medicine,CBM)和中国知识基础设施工程数据库(china national knowledge infrastructure,CNKI)中查询文献,时间范围从各数据库建库至2011年3月.使用STATA 10软件进行meta分析统计,对于每篇入选的文献均计算肺癌发生危险性调整混杂因素后优势比(odd ratio,OR)及其95%置信区间(confidence interval,CI).结果 15篇文献最终被纳入本次研究.Meta分析显示GSTMI基因缺失时CYPIA1基因Ile/Val位点为纯合突变型时肺癌发病风险明显高于杂合型与纯合突变型联合,总体OR分别为3.18(95%CI:1.27-7.98)和1.45(95%CI:1.08-1.94).GSTMl基因缺失时CYPIA1基因MsPI位点为纯合突变型时肺癌发病风险也高于杂合型与纯合突变型联合,总体OR分别为1.90(95%CI:1.00-3.58)和1.57(95%CI:1.23-2.00).结论 CYPIA1和GSTM1基因多态性联合作用增加了单个基因多态性发生肺癌的危险性.CYPIA1纯合突变型基因对人群肺癌易感性的影响明显大于野生型和杂合突变型.     

GSTP1、MTHFR基因多态性与PF方案治疗食管癌疗效相关性研究

目的:了解食管癌患者谷胱甘肽S转移酶P1(glutathione S-transferase Pi-1,GSTP1),亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因多态性分布频率,探讨GSTP1、MTHFR基因多态性与食管癌患者PF方案(顺铂联合5-氟尿嘧啶)化疗疗效相关性.方法:从168例接受PF方案化疗的食管癌病例中采外周血提取DNA,采用PCR法扩增目的基因片段,直接测序法分析GSTP1、MTHFR基因多态性,每两周期化疗后评价疗效一次,按照实体瘤的疗效评价标准进行评价.结果:168例食管癌患者PF方案化疗疗效评价(实体瘤的疗效评价标准RECIST 3.0),CR 19例(11,3％),PR 60例(35.7％),SD 48例(28.6％),PD 41例(24.4),食管癌患者GSTP1基因野生型(AA)有效率为22.0％,杂合型(AG)+纯合型(GG)有效率为25.0％,MTHFR C667T基因野生型(CC)有效率为14.3％,杂合型(CT)+纯合型(TTr)有效率为32.7％,MTHFR A1298C基因野生型(AA)有效率为17.3％,杂合型(AC)+纯合型(CC)有效率为29.8％,其中GSTP1基因野生型(AA)与杂合型(AG)+纯合型(GG)的OR=2.520,95％ CI: 11.237 ～ 25.191,P=0.012,MTHFR C667T基因野生型(CC)与杂合型(CT)+纯合型(TT)的OR=1.933,95％ CI:5.987 ～ 16.354,P=0.032,MTHFR A1298C基因野生型(AA)与杂合型(AC)+纯合型(CC)的OR=3.514,95％CI:19.018～27.332,P=0.511.结果显示食管癌患者GSTP1基因及MTHFR C667T基因多态性与PF方案化疗后疗效相关,且杂合型及纯合型疗效优于野生型.结论:GSTP1及MTHFR-C677T基因多态性与5-氟尿嘧啶的疗效具有相关性,而MTHFR-A1298C基因多态性与5-氟尿嘧啶的疗效无明显相关性,故检测GSTP1及MTH-FR-C677T基因多态性可预测PF方案化疗疗效.     

BER通路中XRCC1多位点单核苷酸多态性与新疆不同民族喉癌易感性相关性研究

背景与目的:影响肿瘤遗传易感性的修复基因主要存在修复通路碱基切除修复(base excision repair,BER)途径,而X射线交错互补修复基因1(X-ray repair cross complementing group 1,XRCC1)是BER通路中的核心基因。近几年,国内外开展了许多有关基因多态性和喉癌易感性的研究。探讨BER通路DNA修复基因XRCC1多位点单核甘酸多态性与新疆不同民族喉癌易感性关系。方法:采用患者组与对照组的研究方法,选择58例喉癌(经病理证实为鳞状细胞癌)患者和120名体检正常的健康人对照,应用Multiplex SNa Pshot技术检测DNA碱基切除修复基因XRCC1的Gln632Gln(rs3547)、Arg399Gln(rs25487)、Arg280His(rs25489)、Arg194Trp(rs1799782)位点单核苷酸多态在患者组和正常对照组中的分布情况。结果:喉癌患者组中XRCC1Arg280His(rs25489)C/T(杂合型)及T/T(突变型)基因型的比例与对照组比较差异无统计学意义(P>0.05)。喉癌患者组中XRCC1的其余3个位点Gln632Gln(rs3547)C/T(杂合型)及T/T(突变型)基因型、Arg399Gln(rs25487)C/T(杂合型)及T/T(突变型)基因型、Arg194Trp(rs1799782)G/A(杂合型)及A/A(突变型)基因型的比例明显高于对照组(P<0.01)。其中汉、维、哈3个民族患者组Gln632Gln(rs3547)C/T(杂合型)及T/T(突变型)基因型、Arg399Gln(rs25487)C/T(杂合型)及T/T(突变型)基因型、Arg194Trp(rs1799782)G/A(杂合型)及A/A(突变型)基因型比例显著高于对照组(P<0.05),携带(rs3547)C/T及T/T基因型、(rs25487)C/T及T/T基因型、(rs1799782)G/A及A/A基因型个体较携带XRCC1(rs3547)C/C基因型、(rs25487)C/C基因型、(rs1799782)G/G基因型的个体患喉鳞状细胞癌的风险升高了分别为0.96倍、1.74倍、1.39倍;1.47倍、1.32倍、0.77倍,1.49倍、1.51倍、1.56倍。结论:汉、维、哈3个民族的XRCC1 Gln632Gln、Arg399Gln、Arg280His、Arg194Trp位点的单核苷酸多态性可能与喉癌遗传性有关联且有差异,XRCC1基因中的Gln632Gln、Arg399Gln、Arg194Trp位点的突变将导致喉癌的发病风险升高。而XRCC1基因中的Arg280His位点突变与喉癌发病的差异无统计学意义,可能该位点的突变与喉癌发病无关。     

Impact of four lncRNA polymorphisms (rs2151280, rs7763881, rs1136410, and rs3787016) on glioma risk and prognosis: A case‐control study

Long noncoding RNA (lncRNA) polymorphisms are reportedly in connection with tumor susceptibility and prognosis. Glioma is one of the most aggressive and common cancers of the central nervous system. This study aimed to investigate the relationship between four lncRNA variants and glioma susceptibility and prognosis in a Chinese Han population. Sequenom Mass‐ARRAY was used to genotype 605 patients with glioma and 1300 cancer‐free individuals. Odds ratios or hazard ratios and related 95% confidence intervals were calculated to estimate the correlations. Logistic and Cox regression models, log‐rank tests, and Kaplan‐Meier curves were used for the statistical analysis. Six inheritance models showed that ANRIL rs2151280 variant genotype (A>G) was related to the susceptibility of glioma, while the other three lncRNAs showed no association. Patients treated with temozolomide or nimustine had better progression‐free survival (PFS) and overall survival (OS) than those treated with platinum. Besides, patients aged older than 40 years showed a poorer OS. The Cox multivariate analysis revealed that the rs1136410 GG genotype (A>G) was beneficial for OS and PFS. The Kaplan‐Meier analyses indicated that rs1136410 A>G and the rs7763881 A>C were associated with longer OS. ANRIL rs2151280 variant genotype might increase susceptibility of glioma. In addition, PARP1 rs1136410 variant genotype could be beneficial for the overall survival of patients with glioma. More research data are needed to further validate our results.     

A Meta-Analysis for Association of XRCC3 rs861539, MTHFR rs1801133, IL-6 rs1800795, IL-12B rs3212227, TNF-α rs1800629, and TLR9 rs352140 Polymorphisms with Susceptibility to Cervical Carcinoma

Background:In spite of substantial declines in both incidence and mortality rates in the past 50 years, cervical cancer remains one of the leading causes of cancer associated mortality among women globally. We performed this meta-analysis to explore the role of XRCC3 rs861539, MTHFR rs1801133, IL-6 rs1800795, IL-12B rs3212227, TNF-α rs1800629 and TLR9 rs352140 polymorphism with susceptibility to cervical carcinoma. Methods:The search databases include PubMed, SciELO, MedRxiv, Web of Science, Scopus, Cochrane Library, China National Knowledge Infrastructure, and China Biology Medicine disc up to 30 June 2021. The language is limited to English and Chinese. The comparison between the polymorphisms and cervical cancer was assessed using pooled odds ratio (OR) and 95% confidence interval (CI). The data are statistically analyzed by Comprehensive Meta-Analysis (CMA) 2.0 software. Results:A total of 59 studies including seven studies with 1,112 cases and 1,233 controls on XRCC3 rs861539, 14 studies with 2,694 cases and 3349 controls MTHFR rs1801133, four studies with 1,121 cases and 1,109 controls on IL-12B rs3212227, seven studies with 1,452 cases and 2,186 controls on IL-6 rs1800795, 20 studies with 4,781 cases and 4909 controls on TNF-α rs1800629, and seven studies with 1743 cases and 2292 controls on TLR9 rs352140 were included. There was a significant association between XRCC3 RS861539, TNF-α rs1800629, and IL-6 rs1800795 polymorphisms and an increased risk of cervical carcinoma in overall population. However, the MTHFR rs1801133, IL-12B rs3212227 and TLR9 rs352140 polymorphisms were not associated. Conclusion:The pooled analysis showed that XRCC3 RS861539, TNF-α rs1800629, and IL-6 rs1800795 were associated with cervical carcinoma susceptibility, but not MTHFR rs1801133, IL-12B rs3212227 and TLR9 rs352140 polymorphisms.Key Words: Cervical carcinoma, cervical cancer, meta-analysis, gene, polymorphism     

Pin1 Promoter rs2233678 and rs2233679 Polymorphisms in Cancer: A Meta-analysis

PIN1 is one member of the parvulin PPIase family. By controlling Pro-directed phosphorylation, PIN1 playsan important role in cell transformation and oncogenesis. There are many polymorphisms in the PIN1 gene,including rs2233678 and rs2233679 affecting the PIN1 promoter. Recently, a number of case-control studies wereconducted to investigate the association between PIN1 gene rs2233678 and rs2233679 polymorphism and cancerrisk. However, published data are still conflicting. In this paper, we summarized data for 5,427 cancer cases and5,469 controls from 9 studies and attempted to assess the susceptibility of PIN1 gene polymorphism to cancersby a synthetic meta-analysis. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess therelationship. All analyses were performed using Stata software. Our results suggested that rs2233678 representeda protective factor in overall analysis (CC vs GG: OR= 0.697, 95%CI: 0.498-0.976; CG vs GG: OR=0.701,95%CI: 0.572-0.858; Dominant model: OR= 0.707, 95%CI: 0.590-0.847; C allele vs G allele: OR=0.734, 95%CI:0.623-0.867) and especially for squamous cell carcinoma of the head and neck, lung cancer and breast cancer inAsians and Caucasians. The rs2233679 polymorphism was significantly associated with decreased cancer risk inoverall analysis (CT vs CC: OR=0.893, 95%CI=0.812-0.981; Dominant model: OR=0.893, 95%CI=0.816-0.976;T allele vs C allele; OR=0.947, 95%CI=0.896-1.000) and especially in Asians. In conclusion, our meta-analysissuggested that -842G>C (rs2233678) and -667C>T (rs2233679) may contribute to genetic susceptibility forcancer risks. Further prospective research with larger numbers of worldwide participants is warranted to drawcomprehensive and firm conclusions.     

Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566) Genes in Thai Cervical Cancer Patients with HPV 16 Infection

The risk of cervical cancer development in women infected with HPV varies in relation to the individual host’sgenetic makeup. Many studies on polymorphisms as genetic factors have been aimed at analyzing associations withcervical cancer. In this study, single nucleotide polymorphisms (SNPs) in 3 genes were investigated in relation tocervical cancer progression in HPV16 infected women with lesions. Two thousand cervical specimens were typedby PCR sequencing methods for TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566). Ninetytwo HPV16 positive cases and thirty two normal cases were randomly selected. Analysis of TP53 (rs1042522)showed a significantly higher frequency in cancer samples (OR=1.22, 95%CI=1.004-1.481, p-value=0.016) whiledifferences in frequency were not significant within each group (p-value=0.070). The genotype distributions ofp16 (rs11515 and rs3088440) and NQO1 (rs1800566) did not show any significantly higher frequency in cancersamples (p-value=0.106, 0.675 and 0.132, respectively) or within each group (p-value=0.347, 0.939 and 0.111,respectively). The results indicated that the polymorphism in TP53 (rs1042522) might be associated with riskof cervical cancer development in HPV16 infected women. Further studies of possible mechanisms of influenceon cervical cancer development would be useful to manage HPV infected patients.     

Estrogen receptors alpha (rs2234693 and rs9340799), and beta (rs4986938 and rs1256049) genes polymorphism in prostate cancer: Evidence for association with risk and histopathological tumor characteristics in Iranian men

We evaluated the effect of estrogen receptor (ER)-α and ER-β genes polymorphisms on development of prostate cancer (PCa) and its correlation with serum reproductive hormones and with clinicopathological characteristics in a sample of Iranian men. One hundred sixty-two men with PCa (mean age 63.7?±?13.4 years) and 324 age-matched healthy controls (mean age 63.1?±?13.2 years) were recruited in this study. Genotypes for ER-α and ER-β genes polymorphisms were identified by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Serum levels of reproductive hormones were also measured. Of PCa patients, 38.3%, and 61.7% had localized and advanced tumor, and 45.7%, and 54.3%, had low grade and high-grade cancer, respectively. There was a significant difference in genotype frequency distribution of ER-α gene polymorphism (P?=?0.002), and ER-β gene polymorphism (P?=?0.003) between cancer patients and controls. The ER-α Pvull C allele carriers (TC or CC) had a significantly increased risk of PCa compared with the TT homozygotes [odds ratio (OR) 3.12; 95% confidence interval (CI) 1.87-5.84, and OR?=?4.73, 95% CI:2.44-7.33, respectively]. It was also found that the ER-α XbaI AG (OR?=?4.36; 95% CI:2.47-6.68; P?=?0.001) and ER-β AluI AG (OR?=?2.66, 95% CI:1.61-4.16; P?=?0.004) genotypes were significantly associated with increased risk of PCa. The ER-β RsaI genotype was not associated with PCa. Baseline serum free E2 levels tended to be lower in men with PCa (0.35?±?0.04?pg/ml) compared to healthy men (0.48?±?0.05?pg/ml). Genotypes which confer susceptibility for developing PCa, accompanied with lowest serum levels of free E2. In the Iranian population, genetic polymorphisms of the ER-α and ER-β genes may be involved in the etiology of PCa. ? 2012 Wiley Periodicals, Inc.     

Genetic Association of XRCC1 Gene rs1799782, rs25487 and rs25489 Polymorphisms with Risk of Thyroid Cancer: a Systematic Review and Meta-Analysis

Background: A number of case-control studies have evaluated associations between the X-ray cross complementary group 1 protein (XRCC1) gene rs1799782 (Arg194Trp), rs25487 (Arg399Gln) and rs25489 (Arg280His) polymorphisms and thyroid cancer (TC) risk, but the results remain inconclusive. Materials and Methods: A systematic literature search was performed using PubMed and Google Scholar Search. According to defined criteria data were extracted and pooled odds ratios with 95% confidence intervals were calculated under five genetic models. Results: A total of 8 studies with 1,672 cases and 2,805 controls for the rs1799782 polymorphism, 14 studies with 2,506 cases and 5,180 controls for the rs25487 polymorphism, and 11 studies with 2,197 cases and 4,761 controls for the rs25489 polymorphism were included in this meta-analysis. Overall, there was a statistical association between XRCC1 rs1799782 polymorphism and TC risk with the homozygote genetic model (TT vs. CC: OR = 1.815, 95% CI = 1.115-2.953, p= 0.016) and the recessive genetic model (TT vs. TC+CC: OR = 1.854, 95% CI = 1.433-2.399, p= <0.001). In the subgroup analysis by ethnicity, significantly increased TC risk was observed only in Asians under the recessive model (TT vs. TC+CC: OR = 1.816, 95% CI = 1.398-2.358, p= <0.001). In addition, there was no positive association between XRCC1 rs25487 and rs25489 polymorphisms and risk of TC. However, there was a significant association between XRCC1 rs25487 polymorphism risk of TC among Caucasians with allele genetic comparison (A vs. G: OR= 0.882, 95% CI = 0.794-0.979, p= 0.136) and dominant genetic comparison (AA+AG vs. GG: OR=0.838, 95% CI = 0.728-0.965, p= 0.014). Conclusions: The results of our meta-analysis suggest an increased risk of TC with the XRCC1 rs1799782 and rs25487 polymorphisms. However, the XRCC1 rs25489 polymorphism appeared to be without influence.     

rs6983267和rs1447295与北京地区前列腺癌的关联研究

目的:探讨染色体8q24两个单核苷酸多态性位点(SNPs) rs6983267和rs1447295,与北京地区前列腺癌(PCa)的相关性.方法:采用病例-对照研究,入选了154例PCa患者和138名正常对照者,检测2个SNPs在病例组和对照组间的等位基因及基因型的分布情况,并分析危险基因型的累积效应.结果:rs6983267有TT、GT及GG 3种基因型,在病例组的分布分别为33.1％、46.4％及20.5％,在对照组的分布分别为32.6％、48.5％及18.9％;rs1447295也有AA、AC及CC 3种基因型,在病例组的分布分别为3.3％、38.2％及58.6％,在对照组的分布分别为1.5％、32.1％及66.4％.2个SNPs的风险等位基因和基因型频率在病例组和对照组间的分布差异无统计学意义,P＞0.05.与不具有风险基因型的个体相比,具有1个和同时具有2个风险基因型的个体PCa的发病风险虽然分别提高了1.231和1.571倍,但差异无统计学意义,P＞0.05.结论:SNPs rs6983267和rs1447295可能与北京地区PCa的易感性无关.