Arg462Gln and Asp541Glu polymorphisms in ribonuclease L and prostate cancer risk：a meta-analysis

Objective：The association between ribonuclease L（RNASEL）gene polymorphisms and prostate cancer risk has been widely reported,but the results of these studies remained controversial and underpowered.We performed a meta-analysis of 28 studies to evaluate the association between Arg462Gln and Asp541Glu polymorphisms in the RNASEL gene and prostate cancer risk.Methods：Odds ratios（ORs）with 95%confidence intervals（CIs） were estimated to assess the association between RNASEL polymorphisms and prostate cancer risk.Results：A significantly increased prostate cancer risk was found for the Arg462Gln polymorphism in Africans（Gln/Gln vs Arg/Arg：OR=2.50,95%CI=1.28-4.87;Gln/Gln vs Gln/Arg＋Arg/Arg：OR=2.54,95%CI=1.30-4.95）,but not in Europeans and Asians.Additionally,the Asp541Glu polymorphism was associated with increased total prostate cancer risk（Glu-allele vs Asp-allele：OR=1.04,95%CI=1.01-1.07;Glu/Glu vs Asp/Asp：OR=1.22,95%CI= 1.03-1.46;Glu/Glu vs Glu/Asp＋Asp/Asp：OR=1.09,95%CI=1.02-1.16）.In the stratified analysis for the Asp541Glu polymorphism,there was a significantly increased prostate cancer risk in Africans and Europeans,and in hospital-based prostate cancer cases.Conclusion：The meta-analysis results showed evidence that RNASEL Arg462Gln and Asp541Glu polymorphisms are associated with prostate cancer risk and could be low-penetrance prostate cancer susceptibility biomarkers.     

Manganese superoxide dismutase polymorphism and prostate cancer risk: a meta-analysis

Objective: MnSOD plays a vital role in carcinogenesis, partly in that it converts superoxide radical to oxygen and hydrogen peroxide. The conflicting results of studies on the role of MnSOD polymorphism (Val-9Ala) with the risk of prostate cancer encouraged us to perform a meta-analysis to examine the association. Methods: A comprehensive search was conducted to examine all the eligible studies of MnSOD polymorphism and prostate cancer risk. We used odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of the association. The pooled estimates of ORs were computed using the fixed-effects model or random-effects model. Results: Ten eligible studies, including 4 608 cases and 5 861 controls, were included in this meta-analysis. Overall, individuals with Ala/Ala and Ala/Val genotypes have an increased risk of prostate cancer, compared with those carrying the Val/Val genotype (Ala/Ala vs. Val/Val: OR=1.13; 95% CI=1.02～1.25; P = 0.020, Pheterogeneity=0.370; Ala/Val vs. Val/Val: OR=1.14; 95% CI=1.04～1.25; P = 0.004, Pheterogeneity=0.940). This significant association was also found in a dominant model with -9Ala allele (Ala/Ala＋Ala/Val vs. Val/Val: OR=1.12; 95% CI: 1.03～1.22; P = 0.009, Pheterogeneity=0.64). In the subgroup by ethnicity, it was observed that significantly elevated prostate cancer risk was associated with -9Ala allele in Caucasians (Ala/Ala vs. Val/Val: OR=1.14; 95% CI=1.03～1.27; P = 0.01, Pheterogeneity=0.31; Ala/Val vs. Val/Val: OR=1.14; 95% CI=1.04～1.24; P = 0.006, Pheterogeneity=0.87) but not in African-Americans. Furthermore, this meta-analysis showed that the -9Ala allele was associated with both nonaggressive and aggressive prostate cancer risks. Conclusion: Our meta-analysis suggests that MnSOD Val-9Ala polymorphism is associated with prostate cancer risk, especially in Caucasians.     

Significant association between Nijmegen breakage syndrome 1 657de15 polymorphism and breast cancer risk

Many studies were published to evaluate the association between Nijmegen breakage syndrome 1 （NBS1） 657de15 polymorphism and breast cancer risk, but the results remained inconsistent. To derive a more precise estimation on the possible association,we performed a meta-analysis of previous published studies. Case-control studies on the association between NBS1 657de15 polymorphisms and breast cancer risk were included into this meta-analysis. We used the odds ratio （OR） with 95% confidence interval （95% CI） to assess the strength of the association. Ten studies with a total of 25,365 subjects were identified and included into this meta-analysis. Meta-analysis of those ten studies showed that there was a significant association between NBS1 657de15 polymorphisms and breast cancer risk （pooled OR = 2.66,95 % CI 1.82 - 3.90, P 〈 0.001 ）. The cumulative meta-analyses showed a trend of a more significant association between NBS1 657de15 polymorphisms and breast cancer risk as data accumulated by publication year. Thus, our meta-analysis suggests that there was a significant association between NBS1 657de15 polymorphisms and breast cancer risk, and NBS1 657de15 polymorphism results in an increased risk of breast cancer.     

Association of interleukin-6 promoter polymorphism with knee osteoarthritis: a meta-analysis

Background Osteoarthritis （OA） is the most common form of human polyarthritis.Many genetic factors have been implicated in OA.It was reported that a polymorphism in the gene of interleukin-6 （IL-6） was associated with OA of knee.The aim of this study was to determine whether functional IL-6 promoter-174G/C （rs1800795） polymorphisms confer susceptibility to knee OA.Methods A meta-analysis was conducted on the association between the IL-6 polymorphism and knee OA.Electronic search at PubMed,EMBASE,Weipu database,and Wanfang database was conducted to select studies.Case-control studies containing available genotype frequencies of IL-6-174G/C were chosen,and odds ratio （OR） with 95％ confidence interval （C/） was used to assess the strength of this association.Results A total of seven studies involving 6 464 subjects （knee OA 3 331 and controls 3 133） were considered in this study.The results suggested that the variant genotypes were not associated with knee OA risk in all genetic models （additive model：OR=1.144,95％ CI 0.934-1.402,P=0.194; recessive model：OR=1.113,95％ CI 0.799-1.550,P=0.526;dominant model：OR=1.186,95％ CI 0.918-1.531,P=0.191）.A symmetric funnel plot,the Begg＇s test （P ＞0.05）,suggested that the data lacked publication bias.Conclusions This meta-analysis does not support the idea that rs1800795 genotype is associated with increased risk of knee OA.However,to draw comprehensive and more reliable conclusions,further prospective studies with larger numbers of participants worldwide are needed to examine the association between rs1800795 polymorphism and knee OA.     

CYP17 T27C polymorphism and prostate cancer risk： a meta-analysis based on 31 studies

Objective：The cytochrome P450 17α-hydroxylase（CYP17）plays a vital role in androgen biosynthesis.A T-to-C polymorphism in the 5＇promoter region of CYP17 has been implicated as a risk factor for prostate cancer,but the results of individual studies are inconclusive or controversial.To derive a more precise estimation of the relationship,we performed an updated meta-analysis from 31 studies based on 27 publications.Methods：A comprehensive search was conducted to examine all the eligible studies of CYP17 polymorphism and prostate cancer risk.We used odds ratios（ORs）with 95%confidence intervals（CIs）to assess the strength of the association.Results：Overall,individuals with CC/CT genotype were not associated with prostate cancer risk （CC vs.TT：OR=1.03,95%CI=0.86-1.24,P=0.72,P heterogeneity 〈0.0001;CT vs.TT：OR=0.99,95%CI=0.87- 1.12,P=0.88,P heterogeneity =0.0006）.In the stratified analysis by ethnicity,there was a significantly increased risk of prostate cancer among individuals of African descent under the recessive model（OR=1.56,95%CI=1.01- 2.39,P=0.04,P heterogeneity =0.65）.Conclusion：This meta-analysis suggested that CYP17 polymorphism might be associated with prostate cancer risk among individuals of African descent.     

Association between EGF +61 A>G Polymorphism and Gastric Cancer Risk: A Meta-analysis

Previous studies suggested an association between the EGF +61 A>G polymorphism and susceptibility to gastric cancer, but the results have been inconsistent. To draw a more precise risk estimation of the association, we performed a meta-analysis of published studies. Pub Med, EMBASE, Google Scholar and the Chinese Wanfang databases were systematically searched to identify relevant studies. There were 7 studies involving 1992 cases of gastric cancer and 3202 controls in this meta-analysis. Our study showed that, overall, the EGF +61 A>G polymorphism was significantly associated with the increased risk of gastric cancer in allele model(G vs. A: OR=1.18, 95% CI=1.00–1.39), dominant model(GG + GA vs. AA: OR=1.28, 95% CI=1.05–1.55), homozygous model(GG vs. AA: OR=1.31, 95% CI=1.06–1.63) and heterozygous model(GA vs. AA: OR=1.25, 95% CI=1.01–1.53). The stratified analysis by ethnicity revealed a significant association between EGF +61 A>G polymorphism and gastric cancer risks in Asians. This meta-analysis indicates that EGF +61 A>G polymorphism may increase the risk of gastric cancer, especially in Asians. Large-sized, well-designed studies involving different ethnic groups should be conducted to confirm this association.     

The association between RASSF1 gene polymorphisms and lung cancer susceptibility among people in Hubei Province of China

The relationship between Ala/Ser polymorphism in 133 codon of exon 3 region of the RASSF1 gene and genetic susceptibility of lung cancer in Hubei province Han population was investigated by a case-control study. Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique was adopted to analyze the polymorphism of codon 133 of exon 3 in the RASSF1 gene of 100 pathologically diagnosed lung cancer patients, and 100 healthy controls. The relationship between different genotypes and the susceptibility of lung cancer was analyzed. Among 200 blood samples from Han people in Hubei Province, including 100 from lung cancer patients and 100 from healthy controls, the frequencies of Ala/Ala, Ala/Ser, Ser/Ser genotype of the RASSF1 in lung cancer patients were 83%, 16%, 1%, and those in healthy controls was 93%, 7%, 0% respectively, with the difference being statistically significant between two groups （P〈0.05）. The individuals with Ala/Ser genotype had higher risk of suffering from lung cancer, with an OR of 2.341, and 95% CI of 1.009-6.393 respectively. It was concluded that RASSF1Ala133Ser was a susceptible genetic factor of lung cancer. Ala/Ser genotype increased the risk of lung cancer.     

Correlations Between Polymorphisms of Extracellular Superoxide Dismutase,Aldehyde Dehydrogenase-2 Genes,as Well as Drinking Behavior and Pancreatic Cancer

Objective To investigate the correlation between drinking behavior combined with polymorphisms of extracellular superoxide dismutase （EC-SOD） and aldehyde dehydrogenase-2 （ALDH2） genes and pancreatic cancer. Methods The genetic polymorphisms of EC-SOD and ALDH2 were analyzed by polymerase chain reaction restriction fragment length polymorphism in the peripheral blood leukocytes obtained from 680 pancreatic cancer cases and 680 non-cancer controls. Subsequently the frequency of genotype was compared between the pancreatic cancer patients and the healthy controls.The relationship of drinking with pancreatic cancer was analyzed. Results The frequencies of EC-SOD （C/G） and ALDH2 variant genotypes were 37.35% and 68.82% respectively in the pancreatic cancer cases, and were significantly higher than those in the healthy controls （21.03% and 44.56%, all P〈0.01）. People who carried EC-SOD （C/G） （0R=2.24, 95% C1= 1.81-4.03, P〈0.01） or ALDH2 variant genotypes （OR=2.75, 95% CI=1.92-4.47, P〈0.01） had a high risk to develop pancreatic cancer. Those who carried EC-SOD （C/G） genotype combined with ALDH2 variant genotype had a high risk for pancreatic cancer （29.56% vs. 6.76%, 0R=7.69, 95% CI=3.58-10.51, P〈0.01）. The drinking rate of the pancreatic cancer group （64.12%） was significantly higher than that of the control group （40.15%; OR=2.66, 95% CI=1.30-4.42, P〈0.01）. An interaction between drinking and EC-SOD （C/G）/ALDH2 variant genotypes increased the risk of occurrence of pancreatic cancer （OR=25.00, 95% CI= 11.87-35.64, P〈0.01）. Conclusion EC-SOD （C/G）, ALDH2 variant genotypes and drinking might be the risk factors of pancreatic cancer.     

CYP17 T27C polymorphism and prostate cancer risk:a meta-analysis based on 31 studies

Objective: The cytochrome P450 17α-hydroxylase (CYP17) plays a vital role in androgen biosynthesis. A T-to-C polymorphism in the 5' promoter region of CYP17 has been implicated as a risk factor for prostate cancer, but the results of individual studies are inconclusive or controversial. To derive a more precise estimation of the relationship, we performed an updated meta-analysis from 31 studies based on 27 publications. Methods: A comprehensive search was conducted to examine all the eligible studies of CYP17 polymorphism and prostate cancer risk. We used odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of the association. Results: Overall, individuals with CC/CT genotype were not associated with prostate cancer risk (CC vs. TT: OR = 1.03, 95% CI = 0.86-1.24, P = 0.72, Pheterogeneity < 0.0001; CT vs. TT: OR = 0.99, 95% CI = 0.87-1.12, P = 0.88, Pheterogeneity = 0.0006). In the stratified analysis by ethnicity, there was a significantly increased risk of prostate cancer among individuals of African descent under the recessive model (OR = 1.56, 95% CI = 1.01-2.39, P = 0.04, Pheterogeneity = 0.65). Conclusion: This meta-analysis suggested that CYP17 polymorphism might be associated with prostate cancer risk among individuals of African descent.     

CXCL12 G801A Polymorphism and Cancer Risk: An Updated Meta-analysis

Many studies have reported the relationship between CXCL12 G801 A polymorphism and cancer risk, with conflicting results. In this study, we tried to clarify the possibility that this polymorphism may increase cancer risk by conducting an updated meta-analysis. Pub Med and EMbase were searched for case-control studies regarding the association of the gene polymorphism and cancer risk. Data were extracted and odds ratios(ORs) with 95% confidence intervals(95% CIs) were used to assess the strength of the association. Heterogeneity among articles and publication bias was also assessed. Significantly increased risk for cancer was found(A vs. G: OR=1.26, 95% CI=1.13–1.40, P<0.01; AA+AG vs. GG: OR=1.33, 95% CI=1.16–1.52, P<0.01). In subgroup analysis, statistically elevated cancer risk was found in both Asian and Caucasian populations(for Asian, AA+AG vs. GG: OR=1.74, 95% CI=1.22–2.47, P<0.01; for Caucasian, AA+AG vs. GG: OR=1.24, 95% CI=1.09–1.42, P<0.01). Our result indicated that CXCL12 G801 A polymorphism is a risk factor for cancer. To validate the finding, further large-size case-control studies are warranted.     

p53基因第72位密码子多态性与食管癌关联研究的Meta分析

目的综合评价p53基因第72位密码子多态性与食管癌发病易感性的关系。方法从PUBMED、中国知网（CNKI）和万方学位论文数据库中检索研究p53基因第72位密码子多态性与食管癌易感性关系的公开发表论文,使用STATA 11.0软件分析p53基因第72位密码子与食管癌易感性的关系。使用比值比（Odds Ratio,OR）和95%可信区间（95%Confidence Interval,95%CI）作为效应指标。同时,评价所纳入研究的异质性及发表偏倚。结果共有9篇p53第72位密码子多态性与食管癌易感性相关的公开发表论文被纳入本研究,共包括病例3032例,对照3924例。分析结果显示,p53基因第72位密码子的Pro等位基因相对于Arg的合并OR值为1.34,95%CI为1.17～1.53;显性模式和隐性模式下合并OR值及95%CI分别为1.30（1.13～1.50）和1.27（1.10～1.45）;纯合基因型Pro/Pro相对于Arg/Arg的合并OR值及95%CI为1.67（1.27～2.18）,P均〈0.01。结论 p53第72位密码子的Pro等位基因是食管癌的易感因素,Pro/Pro纯合基因型使食管癌的患病风险明显增加。     

陕西汉族人p53 codon 72基因多态性与子宫颈鳞癌易患性的关系:病例对照研究

目的: 探讨p53 72密码基因多态性与子宫颈鳞癌易患性的关系. 方法: 在陕西地区汉族妇女中,对子宫颈鳞癌患者33例,健康对照51例进行病例对照研究,用聚合酶链反应法检测p53 codon 72多态性. 结果: p53 codon 72 Arg纯合子、pro纯合子、Arg/pro杂合子在病例组分别是33%, 15%, 52%;在对照组分别是22%, 18%, 61%. p53 codon 72 Arg/Arg基因型与Pro/Pro和Arg/Pro两种基因型相比A值=1.80, 95%CI=0.37～8.97,差异无统计意义(P＞0.05). 结论: p53 codon 72 Arg纯合子可能不增加陕西地区汉族人子宫颈鳞癌易患性.     

福建地区口腔癌患者p53基因72密码子多态性与口腔癌易感性的研究

目的研究p53基因多态性与口腔癌的关联。 方法 对149例口腔癌病例和303例对照病例采集5 mL血液样本,提取基因组DNA,采用PCR-RFLP法检测p53基因的多态性,利用Stata12.1软件分析p53基因的多态性与口腔癌的关联,并进行基因-环境交互作用分析。 结果 p53基因Pro/Pro基因型携带者较Arg/Arg基因型携带者口腔癌的发病风险增加1.837倍(95%CI:1.016,3.325)。p53基因Pro/Pro基因型与饮酒有相乘交互作用(OR_相乘:4.375,95%CI:1.646,11.627)。 结论 p53基因Pro/Pro基因型可能是福建地区口腔癌的易感基因,Pro/Pro基因型与饮酒具有相乘交互作用。     

TGF-β1和P53基因多态性与宫颈癌的关系

目的:探讨TGF-β1及P53基因第72位密码子多态性与宫颈癌发生的关系。方法:对宫颈组织标本(包括39例宫颈鳞癌,17例宫颈上皮内瘤变(CIN)Ⅱ-Ⅲ级与17例CINⅠ级-正常宫颈)进行免疫组化法观察TGF-β1蛋白表达和用直接PCR法检测宫颈组织标本中P53 codon 72的基因型,分析其与宫颈癌发生发展之间的相关性。结果:TGF-β1的阳性率在CINⅠ组、CINⅡ-Ⅲ组分别为:11.8%、35.3%,而浸润癌组阳性率为64.3%,与前两者比较有显著性差异(P=0.0001)。TGF-β1表达与宫颈癌的临床分期有关(P=0.016),但与细胞分化程度及淋巴结转移与否无关(P=0.966;P=0.254)。在CIN样本中检出P53 codon 72 Arg/Arg、Arg/Pro及Pro/Pro基因型分别为52.9%、38.2%及5.9%;而宫颈鳞癌组织其中检出率分别为35.9%、46.2%及17.9%。Pro/Pro基因型在宫颈鳞癌组中所占比例显著高于CIN组(P=0.018,OR=3.300,95%CI=1.192-9.136),而Arg/Pro基因型与其比较,在两组间的分布无显著差异(P=0.205,OR=1.488,95%CI=0.804-2.756)。P53 codon 72 Pro/Pro基因型检测率在宫颈癌及CIN组织中,随着TGF-β1蛋白的表达增强,Pro/Pro检测率逐渐增高,两者呈正相关(r=0.444,P=0.006)。结论:TGF-β1的表达与宫颈鳞癌的发生发展有相关,Pro/Pro基因型是宫颈鳞癌的遗传易感性基因,与TGF-β1有协同作用。     

p53基因第72密码子多态与中国人群肝细胞癌遗传易感性的研究

目的 探讨p53基因第72密码子多态(Arg72Pro)与中国人群肝细胞癌(HCC)遗传易感性的关系。方法 采用聚合酶链反应-限制性片段长度多态方法,检测507例HCC患者与541例对照组肝正常组织p53Arg72Pro基因型分布及差异。结果 HCC组及对照组Pro等位基因频率分别为44．5％及40．3％,Pro型的HCC发病风险是Arg型的1．19倍(95％CI=1．00-1．41,P=0．053)。与Arg／Arg纯合子相比,Arg／Pro杂合子的HCC风险增加至1．21倍(95％CI=0．82-1．78,P=0．341),而Pro／Pro纯合子的HCC风险显著增加至1．79倍(95％CI=1．06～3．01,P=0．029)。将Arg／Arg、Arg／Pro和Pro／Pro视为不同的等级,经趋势Armitage检验,存在等位基因剂量-效应关系(P=0．046)。结论 Pro增加HCC发病风险,并呈等位基因剂量-效应关系,表明Pro／Pro基因型是中国人的HCC遗传易感因素。     

p53基因第72密码子多态性与青海地区胃癌易感性

目的 探讨p53基因第72密码子（Arg72Pro）单核苷酸多态性（SNP）与青海地区胃癌及其胃癌发生部位易感性的关系.方法 采用TaqMan实时荧光定量PCR方法,检测胃癌患者及健康对照者外周血标本p53基因Arg72Pro多态性.结果 p53基因Arg72Pro 3种基因型Arg/Arg、Pro/Pro、Arg/Pro在胃癌组中的频率分别为21.86%、25.00%、53.14%,在对照组中分别为16.67%、31.94%、51.39%.等位基因Arg和等位基因Pro在胃癌中的频率分别为48.44%、51.56%,在对照组中分别为42.36%、57.64%.两组间基因型频率及等位基因频率分布均无统计学意义（P分别为0.59、0.32）,p53基因型分布和胃癌发生的部位亦不具有相关性（P=0.74）.结论 p53基因Arg72Pro多态性与青海地区胃癌易感性无明显相关,与胃癌发生部位也无明显相关性.     

Arg462Gln and Asp541Glu polymorphisms in ribonuclease L and prostate cancer risk: a meta-analysis

Objective: The association between ribonuclease L (RNASEL) gene polymorphisms and prostate cancer risk has been widely reported, but the results of these studies remained controversial and underpowered. We performed a meta-analysis of 28 studies to evaluate the association between Arg462Gln and Asp541Glu polymorphisms in the RNASEL gene and prostate cancer risk. Methods: Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association between RNASEL polymorphisms and prostate cancer risk. Results: A significantly increased prostate cancer risk was found for the Arg462Gln polymorphism in Africans (Gln/Gln vs Arg/Arg: OR = 2.50, 95%CI = 1.28-4.87; Gln/Gln vs Gln/Arg + Arg/Arg: OR = 2.54, 95%CI = 1.30-4.95), but not in Europeans and Asians. Additionally, the Asp541Glu polymorphism was associated with increased total prostate cancer risk (Glu-allele vs Asp-allele: OR = 1.04, 95%CI = 1.01-1.07; Glu/Glu vs Asp/Asp: OR = 1.22, 95%CI = 1.03-1.46; Glu/Glu vs Glu/Asp + Asp/Asp: OR = 1.09, 95%CI = 1.02-1.16). In the stratified analysis for the As-p541Glu polymorphism, there was a significantly increased prostate cancer risk in Africans and Europeans, and in hospital-based prostate cancer cases. Conclusion: The meta-analysis results showed evidence that RNASEL Arg462Gln and Asp541Glu polymorphisms are associated with prostate cancer risk and could be low-penetrance prostate cancer susceptibility biomarkers.     

p53基因第72位密码子多态性与HPV相关食管鳞癌遗传易感性的研究

目的探究p53基因第72位密码子(codon72)多态性与HPV相关食管鳞癌的关联性。方法选择435例食管鳞癌(Esophageal Squamous Cell Carcinoma,ESCC)患者和550例健康对照,进行p53 codon72与食管鳞癌发生的关联研究。结果病例组的Arg/Arg基因型的频率高于对照组(85.7%vs 49.6%);Arg/Arg基因型携带者发生食管鳞癌的风险是携带Arg/Pro或Pro/Pro基因型个体的6.48倍(P<0.001)。结论 p53 co-don72纯合子Arg/Arg可能是HPV相关食管鳞癌发生的危险因素。     

XRCC1基因多态性与宫颈癌危险性的研究

目的:探讨XRCC1基因多态性与江苏人群宫颈癌易感性之间的关系.方法:采用基于医院的分子流行病学病例对照研究方法,选取436例经组织病理学确诊为宫颁癌的新发患者作为病例组和503例年龄(±5岁)、性别相匹配的非肿瘤者作为对照组;采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)方法对XRCC1启动子区-77T>C和外显子10区的Arg399Glu基因多态性进行基因分型,比较不同基因型携带者患宫颈癌的危险性;通过分层分析探讨初潮年龄、患者年龄及产次对罹患宫颈癌的影响.结果:与XRCC1-77TT相比,-77TC/CC基因型可减少罹患宫颈癌的危险性(OR=0.64,95%CI=0.48～0.86).携带3～4个危险等位基因者比携带1～2个等位基因者患官颈癌的危险性更大(OR=1.44,95%CI=1.01～2.04).分层分析结果显示,年龄较大和产次较多且携带3～4个危险等位基因者罹患宫颈癌的危险性分别增加1.64倍(95%CI=1.02～2.64)和1.66倍(95%CI=1.01～2.72).本研究未发现XRCC1Arg399Glu多态性与宫颈癌之间存在显著性相关.结论:XRCC1基因启动子-77T>C多态性显著降低江苏地区汉族人群罹患宫颈癌的危险性.     

p53 codon72多态性与延边地区乳腺癌发生的相关性

[目的]探讨p53基因codon72多态性与延边地区朝鲜族及汉族乳腺癌发生的遗传易感性关系,并观察多态性分布是否存在种族差异.[方法]采用限制性酶切片段多态性分析技术检测90例乳腺癌组织及94例对照健康妇女p53 codon72基因多态性的分布.[结果]p53 codon72的3种基因型Arg/Arg、Pro/Pro、Pro/Arg在朝鲜族乳腺癌组中所占比例分别为48.78%,29.27%,21.95%,与朝鲜族对照组的16.28%,46.51%,37.20%相比较,总构成比差异有统计学意义(χ2=10.17),其中朝鲜族乳腺癌组Arg/Arg所占比例明显高于对照组,且高于其他2个型;在延边地区汉族乳腺癌组中所占比例分别为20.41%,32.65%,46.93%,与汉族对照组33.33%,43.13%,23.53%相比较差异有统计学意义(χ2=6.18),Pro/Arg在汉族乳腺癌组中所占比例明显高于对照组.[结论]p53 Arg/Arg及Pro/Arg基因型分别可能是延边地区朝鲜族及汉族乳腺癌发生的主要遗传易感因素.