DNA修复基因RAD52 miRNA靶序列单核苷酸多态性与肝细胞癌遗传易感性研究

目的 探讨DNA修复基因RAD52 3'非翻译区（3'- untranslated region,3'-UTR）miRNA靶序列单核苷酸多态性（single nucleotide polymorphism,SNP）与广西地区人群肝细胞癌（hepatocellular carcinoma,HCC）遗传易感性的关系。方法 采用病例- 对照研究,对1 002例确诊的HCC新发病例和1 013例非肿瘤患者RAD52基因3'-UTR区域miRNA靶序列SNPs （rs1051669、rs1051672、rs7301931和rs7310449）进行基因分型,并分析其基因型频率分布及其与HCC遗传易感性的关系。结果 RAD52基因各SNP基因型在病例组和对照组中的分布频率差异均无统计学意义（P>0.05）。调整年龄、性别、吸烟、饮酒和HBV感染等因素后,未发现各SNP与HCC易感性有关联;分层分析发现,在女性人群中,与携带rs1051669 C等位基因相比,TT基因型可显著降低个体罹患HCC的风险（TT vs CT/CC：OR=0.03,95%CI：0.00~0.62,P=0.03）;与携带rs1051672 G等位基因相比,AA基因型可显著降低个体罹患HCC的风险（AA vs GA/GG：OR=0.03,95%CI：0.01~0.88,P=0.04）。结论 RAD52基因3'- UTR区域miRNA靶序列SNPs rs1051669、rs1051672位点可能与广西地区女性人群HCC易感性有关。     

IL-17基因多态性与胃癌易感性的关系

目的 探讨白介素-17（Interleukin-17,IL-17）基因rs2275913、rs763780多态性与胃癌易感性的关系。方法 收集青岛地区355例汉族胃癌患者为胃癌组,同期进行健康体检的300名正常者为对照组,采集两组患者外周血,提取全血基因组DNA,PCR扩增目的基因片段,采用DNA直接测序法检测IL-17基因rs2275913、rs763780位点基因型,分析其位点多态性与胃癌易感性的关系。结果 胃癌组与对照组IL-17基因 rs2275913位点基因型分布差异有统计学意义（χ²=17.192,P＜0.001）。与GG基因型相比,携带AA基因型的个体胃癌发病风险增加,差异有统计学意义（χ²=16.829,P＜0.05;OR=2.891,95%CI=1.721~4.857）;携带GA基因型的个体胃癌发病风险增加,但差异无统计学意义（χ²=0.878,P＞0.05）。胃癌组与对照组相比,IL-17基因 rs763780位点基因型分布差异无统计学意义（χ²=1.381,P=0.501）。结论 IL-17基因 rs2275913 A等位基因的携带会增加青岛地区汉族人群胃癌发病风险,IL-17基因 rs763780位点多态性与胃癌发病风险无明显相关性。     

GHR基因单核苷酸多态性与广西肝癌家系遗传易感性的研究

目的 探讨生长激素受体（growth hormone receptor,GHR）基因单核苷酸多态性（single nucleotide polymorphism,SNP）与广西扶绥县肝癌家系遗传易感性的关系。方法 选取广西扶绥县25个肝癌家系和17个健康对照家系人群为研究对象,其中肝癌家系肝癌患者25例（肝癌家系肝癌组）、非肝癌者81名（肝癌家系非肝癌组）;健康对照家系80名（对照组）。采用飞行时间质谱技术检测GHR基因rs6451620位点基因型及等位基因分布频率,非条件logistic回归模型分析rs6451620位点多态性与肝癌遗传易感性的关系。结果 GHR基因rs6451620位点存在G和A两种等位基因,AA、GA、GG 3种基因型。GHR基因rs6451620位点基因型频率符合遗传平衡。GHR基因rs6451620位点等位基因G和A在肝癌家系肝癌组中的分布频率分别为64%和36%,肝癌家系非肝癌组为60.5%和39.5%,对照组为70.6%和29.4%。以肝癌家系肝癌组和非肝癌组人群为研究对象时,携带A等位基因型的个体发生肝癌的风险是G等位基因型个体的0.81倍（95%CI：0.27～2.41,P=0.699）,以肝癌家系肝癌组和健康对照人群为研究对象时,携带A等位基因型个体发生肝癌的风险是G等位基因型个体的1.49倍（95%CI：0.73～3.04,P=0.274）。结论 GHR基因rs6451620位点单核苷酸多态性与广西肝癌家系遗传易感性无明显相关性。     

TLR3和TLR4基因多态性与EBV相关胃癌易感性的关系

目的 探讨TLR3c.1377和TLR4Asp299Gly基因多态性与EBV感染在EBV相关胃癌（EBVassociated gastric carcinoma, EBVaGC）发生中的相关性。方法 选用41例EBVaGC组织、62例EBV阴性胃癌（EBV-negative gastric carcinoma, EBVnGC）组织以及64例健康人群血标本作为研究对象,采用PCR结合限制性长度多态性分析（reaction-restriction fragment length polymorphism, RFLP)技术检测TLR3c.1377 和TLR4 Asp299Gly基因多态性,并对实验结果进行统计分析。结果 （1）胃癌组与对照组比较TLR3c.1377基因型频率差异有统计学意义（P=0.025）,胃癌组T等位基因频率明显高于对照组（45.6% vs. 29.7%,P=0.004),T等位基因携带者的患病风险明显高于非携带者(OR=2.435,P=0.008）;（2）EBVaGC、EBVnGC以及对照组间TLR3c.1377基因型、等位基因频率差异无统计学意义（P>0.05）。（3）EBVaGC组,EBVnGC组以及正常对照组所有个体TLR4 Asp299Gly基因型均为Asp/Asp纯合子（P>0.05）。结论 TLR3c.1377基因多态性与胃癌易感性有关,T等位基因为胃癌的危险因子,而C等位基因为一保护基因;TLR3c.1377基因多态性与EBVaGC易感性无明显相关。     

Dnmt1基因单核苷酸多态性与胃癌的关系

目的 探讨Dnmt1基因rs16999593、rs2228611位点单核苷酸多态性与胃癌发病易感性的关系。方法 采用病例-对照的研究方法,采集青岛地区310例胃癌患者（胃癌组）与420名健康体检者（对照组）外周血液样本,提取基因组DNA,PCR扩增目的基因片段,用DNA直接测序法对Dnmt1基因rs16999593、rs2228611位点进行基因分型,分析其与胃癌发病易感性的关系。 结果 Dnmt1基因rs16999593位点TT型、CT型和CC型在胃癌组中的频率分别为58.1%、36.1%和5.8%,在对照组中分别为66.9%、27.9%和5.2%。与野生型TT型相比,携带CT基因型者胃癌发病的风险性增加（OR＝1.494, 95%CI=1.086~2.057,P<0.05）,CC基因型虽可增加胃癌发病风险,但差异无统计学意义（OR=1.277,95%CI=0.677~2.448,P>0.05）。rs2228611位点的各基因型在胃癌组和对照组间分布频率的差异无统计学意义（P>0.05）。 结论 Dnmt1基因rs16999593位点CT基因型可能增加青岛地区汉族人群胃癌发病的易感性。     

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。     

人核黄素转运蛋白RFT2基因单核苷酸多态性与食管鳞癌遗传易感性的关系

目的 探讨人核黄素转运蛋白RFT2基因中1172C>T位点单核苷酸多态性（SNP）与食管鳞癌（ESCC）遗传易感性的关系。方法 磁珠法提取全血基因组DNA,包括240例食管癌患者和198例健康对照人群。PCR扩增目的片段后直接测序,分析RFT2基因的SNP1172C>T位点的基因型频率及其与食管癌的易感性关系。结果 食管癌患者与健康对照人群RFT2 SNP1172C>T的基因型频率有显著差异（χ²=13.10, P=0.001）。分析1172C>T位点显示,与C/C相比,C/T和T/T基因型降低食管癌发生率（OR=0.66, 95%CI: 0.41~1.05）。结论 RFT2基因功能区SNP1172C>T与食管癌的遗传易感性相关。     

Dicer1基因单核苷酸多态性与浙江地区BRCA1/BRCA2阴性家族性乳腺癌的相关性研究

[目的]研究Dicer1基因单核苷酸多态性与浙江地区BRCA1/BRCA2阴性家族性乳腺癌易感性的相关性.[方法]选择3个单核苷酸多态性位点(rs74899136、rs2297730和rs147668333),采用PCR测序方法对65例BRCA1/BRCA2阴性家族性乳腺癌患者和100名健康女性进行分析,x2检验比较两组在等位基因和基因型分布频率上的差异,非条件Logistic回归评价多态性位点与乳腺癌易感性的相关性.[结果]rs2297730的G等位基因和A/G基因型在乳腺癌病例组中的分布频率显著高于对照组(OR=1.873,95％CI:1.174～2.988,P=0.008;OR=3.133,95％CI:1.562～6.287,P=0.004).另外2个多态性位点等位基因和基因型分布频率在两组间无显著差异(P＞0.05).rs2297730在共显性、显性、超显性以及加性遗传模式下与乳腺癌相关(P＜0.05),最佳遗传模式为显性.[结论] Dicer1基因rs2297730与浙江地区BRCA 1/BRCA2阴性家族性乳腺癌易感性相关.     

FAT10单核苷酸多态性与肝细胞癌发生发展的关联

目的探讨FAT10基因外显子和侧翼序列单核苷酸多态性（single-nucleotide polymorphism,SNP）与 肝细胞癌发生和临床病理的关系。方法通过DNA测序分析方法,检测254例肝癌和268例健康对照人群的FAT10基因SNPs,并比较不同基因型与肝细胞癌的发生和临床病理的的关系。采用Haploview统计软件分析研究对象的连锁不平衡和单体型。结果在肝癌组和对照组共检测到10个SNPs位点。 其中-143 A/G,-121 A/G,+3476 T/C,+3607 T/C,+3620 C/G和 +3809 G/T基因型与相应的野生型纯合子相比能明显降低肝癌发病的风险（P<0.05）,但是这些多态性位点的基因型频率与肝癌的临床表型无关（P>0.05）。进一步单体型分析发现,各变异等位基因在病例组和对照组内均存在遗传连锁不平衡现象,AATTTCG、AATCTCG、GGCTCGT和AGCTCGT为四种常见的单体型。GGCTCGT和AGCTCGT单体型可能对肝癌的发病起保护性效应（OR=0.41,95%CI:0.24~0.70,P<0.05 和OR=0.43,95% CI:0.22~0.983,P<0.05）,而AATTTCG单体型可能增加肝癌的发病风险（OR=1.64,95% CI:1.24~2.17,P<0.05）。结论本研究首次发现中国汉族人群FAT10基因外显子和侧翼序列SNPs与肝癌的易感性相关,但需要不同种族的大样本和功能研究进一步验证。     

TNRC9和FGFR2基因多态性与湖北地区汉族人群乳腺癌患病风险研究

目的:研究探讨TNRC9基因rs3803662和FGFR2基因rs17102287单核苷酸多态性(SNP)及两SNP连锁与湖北地区汉族妇女乳腺癌易感性的关系.方法:抽取汉族510例乳腺癌患者和550例健康妇女外周血,分离淋巴细胞,抽提基因组DNA,检测TNRC9 rs3803662和FGFR2 rs17102287 的基因多态性,计算基因型和等位基因频率,研究各基因型以及基因SNP连锁之间对乳腺癌风险的影响.结果:TNRC9基因SNP位点rs3803662的C/C、C/T和T/T基因型频率在病例组和对照组分别为13.0％、46.4％、40.6％和7.3％、52.1％、40.6％,其基因型频率相比差异有统计学意义,x2=9.40,P=0.043.而等位基因频率两组相比差异均无统计学意义;FGFR2基因SNP位点rs17102287的C/C、C/T和T/T基因型频率在病例组和对照组中差异无统计学意义;等位基因频率两组相比差异无统计学意义.两基因连锁分析D'=0.087,r2=0.085,没有明显连锁不平衡现.结论:TNRC9基因rs3803662多态性与汉族妇女乳腺癌易感性有关,FGFR2基因rs17102287多态性及其与TNRC9基因rs3803662单倍体连锁与湖北地区汉族人群妇女乳腺癌易感性无相关性.     

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。     

p73基因多态性与乳腺癌遗传易感性的关系

  目的  探讨p73基因G4C14-A4T14多态性与中国重庆地区汉族女性乳腺癌遗传易感性的关系。  方法  采用病例对照研究, 利用Sequenom Mass Array?iPLEX GOLD系统对170例乳腺癌患者和178例健康者对照的p73基因G4C14-A4T14单核苷酸多态性进行了检测, 并对检测结果进行t检验、χ2检验和非条件Logistic回归分析。  结果  p73基因G4C14-A4T14多态基因型和等位基因型在乳腺癌组和对照组的分布频率差异无统计学意义(χ2=2.750, P=0.253;χ2=2.195, P=0.138);与携带GC/AT和AT/AT基因型的个体比较, 携带GC/GC基因型的个体患三阴性乳腺癌发病风险显著增加(OR=2.992, 95%CI: 1.300~6.890, P=0.010)。  结论  p73基因G4C14-A4T14多态性与中国重庆地区汉族女性三阴性乳腺癌的发病风险相关, GC/GC基因型是中国重庆地区汉族女性三阴性乳腺癌的易感基因型; 携带GC/GC基因型的乳腺癌可能预后不良。      

雌激素α受体基因XbaⅠ和PvuⅡ多态性与乳腺癌关系的研究

目的研究广西地区女性人群中雌激素受体（ERα）基因XbaⅠ和PvuⅡ多态性与乳腺癌的关系。方法选取128例女性乳腺癌患者、65例良性乳腺疾病患者及130例正常人对照,应用聚合酶链反应-限制片段长度多态性分析方法检测研究对象的XbaⅠ和PvuⅡ多态性,并结合临床特征及病理结果进行分析。结果乳腺癌组Xx基因型、X基因携带者（XX＋Xx）的频率均高于对照组（P均〈0.05）;与xx基因型相比,Xx基因型、X基因携带者（XX＋Xx）的OR值分别为1.865（95%CI：1.087～3.200）和1.894（95%CI：1.115～3.065）,这两种基因型患乳腺癌的危险性升高。XbaⅠ和PvuⅡ等位基因频率在汉族和壮族女性乳腺癌患者中分布不同（P〈0.05）。在汉、壮两个民族中,与xx型相比,壮族女性X基因携带者（XX＋Xx）比汉族更有患乳腺癌的风险;与PP型相比,汉族女性pp型者比壮族更有患乳腺癌的风险。结论 ERα基因XbaⅠ多态性影响广西地区女性罹患乳腺癌的危险性,X基因携带是患乳腺癌的危险因素,壮族女性X基因携带者比汉族更有患乳腺癌的风险;虽然PvuII多态性在乳腺癌组与对照组中分布无差异,但是汉族女性pp型者比壮族更易患乳腺癌。     

Human leukocyte antigen‐E alleles and expression in patients with serous ovarian cancer

Human leukocyte antigen‐E (HLA‐E) is one of the most extensively studied non‐classical MHC class I molecules that is almost non‐polymorphic. Only two alleles (HLA‐E*0101 and HLA‐E*0103) are found in worldwide populations, and suggested to be functional differences between these variants. The HLA‐E molecule can contribute to the escape of cancer cells from host immune surveillance. However, it is still unknown whether HLA‐E gene polymorphisms might play a role in cancer immune escape. To explore the association between HLA‐E alleles and the susceptibility to serous ovarian cancer (SOC), 85 primary SOC patients and 100 healthy women were enrolled. Here, we indicated that high frequency of HLA‐E*0103 allele existed in SOC patients by the allele‐specific quantitative real‐time PCR method. The levels of HLA‐E protein expression in SOC patients with the HLA‐E*0103 allele were higher than those with the HLA‐E*0101 allele using immunohistochemistry analysis. The cell surface expression and functional differences between the two alleles were verified by K562 cells transfected with HLA‐E*0101 or HLA‐E*0103 allelic heavy chains. The HLA‐E*0103 allele made the transfer of the HLA‐E molecule to the cell surface easier, and HLA‐E/peptides complex more stable. These differences ultimately influenced the function of natural killer cells, showing that the cells transfected with HLA‐E*0103 allele inhibited natural killer cells to lysis. This study reveals a novel mechanism regarding the susceptibility to SOC, which is correlated with the HLA‐E*0103 allele.     

MAP3K1及LSP1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相关性

目的:探讨MAP3K1及LSP1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例绝经前乳腺癌患者和287例绝经前正常对照者MAP3K1基因rs889312和LSP1基因rs3817198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:MAP3K1基因rs889312和LSP1基因rs3817198多态性位点基因型频率在乳腺癌和对照样本之间未存在显著差异(P=0.937、P=0.323)。Logistic回归分析结果显示,对于MAP3K1的rs889312位点,与AA携带者相比,AC携带者、CC携带者和AC+CC基因型携带者与乳腺癌的患病危险无关(OR=0.814,95%CI=0.537-1.236,P=0.335;OR=0.999,95%CI=0.627-1.594,P=0.998;OR=0.876,95%CI=0.591-1.298,P=0.509);对于LSP1的rs3817198位点,与TT携带者相比,CT携带者、CC携带者和CT+CC基因型携带者与乳腺癌的患病危险无关(OR=0.832,95%CI=0.565-1.223,P=0.349;OR=0.651,95%CI=0.108-3.936,P=0.640;OR=0.839,95%CI=0.573-1.229,P=0.369)。结论:上述两个基因MAP3K1和LSP1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相关性。     

PRRC2A基因单核苷酸多态性与江苏省汉族女性散发性乳腺癌易感性的相关性研究

  目的  探讨主要组织相容性复合体内PRRC2A基因位点chr6_31697494与江苏省汉族女性散发性乳腺癌易感性的相关性。  方法  采用基质辅助激光解吸附电离飞行时间质谱（MALDI-TOF MS）基因分型技术,对214例乳腺癌患者（病例组）和212例健康对照者（对照组）的PRRC2A基因位点chr6_31697494进行基因分型,用χ2检验统计分析两组基因型和等位基因的频率,采用非条件Logistic回归分析,校正性别、年龄影响,计算比数比（OR）和95%可信区间（CI）,评价多态性位点与乳腺癌遗传易感性的相关性。进一步将病例组按雌激素受体（ER）和孕激素受体（PR）免疫组织化学检测结果的不同进行分层分析。  结果  位点chr6_ 31697494基因型分布频率在病例-对照分组分析中差异无统计学意义（P>0.05）;但在ER阳性/阴性分组和PR阳性/阴性分组中差异有统计学意义（P < 0.05）,杂合基因型（chr6_31697494,CT）和ER阳性及PR阳性乳腺癌均相关（OR=0.40,95%CI:0.33~0.47;OR=0.49,95%CI:0.43~0.57）。  结论  PRRC2A基因位点chr6_31697494多态性与乳腺癌患病风险无明显相关性,但CT基因型与ER和PR阳性乳腺癌明显相关。      

Association of p73 G4C14-A4T14 polymorphisms with genetic susceptibilities to breast cancer: a case–control study

The aim of this study was to evaluate the association of p73 G4C14-A4T14 polymorphisms with susceptibility to breast cancer in Chongqing women of Han Nationality in China. In a case?Ccontrol study, single-nucleotide polymorphisms of p73 G4C14-A4T14 at exon 2 were genotyped by Sequenom MassArray^? iPLEX GOLD System in 170 patients with breast cancer and 178 healthy controls. Data were analyzed via t test, Chi-square test, and logistic regression analysis. The distribution of p73 genotypes and allelotypes had no significant difference between patients with breast cancer and healthy controls (??²?=?2.750, P?=?0.253; ??²?=?2.195, P?=?0.138). More risk of developing triple negative breast cancer (TNBC) was found in the individuals who carried with GC/GC genotype than individuals carried with GC/AT and AT/AT genotypes (OR?=?2.99; 95?% CI, 1.30?C6.89; P?=?0.010). p73 G4C14-A4T14 polymorphisms are closely associated with the increased risk for TNBC in Chongqing women of Han Nationality in China; GC/GC genotype is susceptible genotype for TNBC in Chongqing women of Han Nationality in China. The patients with breast cancer who carried with GC/GC genotype may have bad prognosis. Additional larger studies are required to confirm these findings.     

Vascular Endothelial Growth Factor (VEGF) Gene Polymorphisms and Breast Cancer Risk in a Chinese Population

Vascular endothelial growth factor (VEGF) is a potent regulator of angiogenesis and thereby involved in thedevelopment and progression of solid tumours. Associations between three VEGF gene polymorphisms (-634G/C, +936 C/T, and +1612 G/A) and breast cancer risk have been extensively studied, but the currently availableresults are inconclusive. Our aim was to investigate associations between three VEGF gene polymorphisms andbreast cancer risk in Chinese Han patients. We performed a hospital-based case-control study including 680female incident breast cancer patients and 680 female age-matched healthy control subjects. Polymerase chainreaction restriction fragment length polymorphism (PCR-RFLP) analysis was performed to detect the threeVEGF gene polymorphisms. We observed that women carriers of +936 TT genotypes [odds ratio (OR) =0.46,95% confidence interval (CI) = 0.28, 0.76; P=0.002] or 936 T-allele (OR=0.81, 95% CI= 0.68, 0.98; P=0.03) hada protective effect concerning the disease. Our study suggested that the +1612G/A polymorphism was unlikelyto be associated with breast cancer risk. The -634CC genotype was significantly associated with high tumoraggressiveness [large tumor size (OR=2.63, 95% CI=1.15, 6.02; P=0.02) and high histologic grade (OR=1.47,95% CI= 1.06, 2.03; P=0.02)]. The genotypes were not related with other tumor characteristics such as regionalor distant metastasis, stage at diagnosis, or estrogen or progesterone receptor status. Our study revealed thatthe VEGF -634 G/C and +936 C/T gene polymorphisms may be associated with breast cancer in Chinese Hanpatients.     

Association of interleukin-10 gene polymorphisms with breast cancer in a Chinese population

Backgroud

Interleukin-10(IL-10) is a multifunctional cytokine with both immunosuppressive and antiangiogenic functions. Polymorphisms in the IL-10 gene promoter genetically determine interindividual differences in IL-10 production. This study was performed to determined whether polymorphisms in the IL-10 gene promoter were associated with breast cancer in a Chinese Han population.

Methods

We genotyped 315 patients with breast cancer and 322 healthy control subjects for -1082A/G, -819T/C and -592A/C single nucleotide polymorphisms in the promoter region of the IL-10 gene by polymerase chain reactionerestriction fragment length polymorphism (PCR-RFLP).

Results

There were no significant differences in genotype, allele, or haplotype frequencies in all three loci between patients and healthy controls. Analysis of breast cancer prognostic and predictive factors revealed that the -1082AA genotype was associated with a significantly increased risk of lymph node (LN) involvement (P = 0.041) and larger tumor size (P = 0.039) at the time of diagnosis. Furthermore, in the haplotype analysis of IL-10 gene, we found that patients carrying ATA haplotype were in higher LN involvement (p = 0.022) and higher tumor stage(p = 0.028) of breast cancer at the time of diagnosis compared with others.

Conclusions

Our findings suggest that IL-10 promoter polymorphisms participate in the progression of breast cancer rather than in its initial development in Chinese Han women.