细胞周期蛋白D1基因多态与人结直肠癌遗传易感性

目的探讨细胞周期蛋白D1(Cyclin D1)基因第870位点单核苷酸多态(G870A)与结直肠癌(colorectal cancer,CRC)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性(PCR-RFLP)方法,检测345例CRC与670名对照的G870A基因型分布及差异。结果CRC和对照两组人群的Cyclin D1 G870A基因型分布差异无统计学意义(P>0.05)。与GG基因型相比,GA、AA基因型及A等位基因携带者(GA及AA基因型)的CRC风险分别为1.08倍(95%CI=0.75～1.54)、1.01倍(95%CI=0.68～1.51)及1.06倍(95%CI=0.75～1.49)。经性别、年龄、肿瘤位置、组织学分化程度和Dukes分期等因素分层分析,结果均显示G870A与CRC发病风险无显著性相关。结论Cyclin D1 G870A多态与宁波地区人群的CRC发病风险无相关性。     

survivin基因启动子区-31C/G多态性与散发性结直肠癌遗传易感性的关系

目的： 探讨生存素survivin基因启动子区-31C/G单核苷酸多态性与中国华南地区散发性结直肠癌（CRC）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性法（PCR-RFLP）检测华南地区711例健康人和702例CRC的survivin基因-31C/G位点单核苷酸多态性。结果: 结直肠癌患者CC基因型的频率明显高于对照人群（36.5% vs 26.2 %,2=17.89,P<0.01）,与CC基因型相比,CG、GG基因型和等位基因G携带者的CRC发病风险分别显著下降至0.61倍（95%CI=0.46-0.80,P<0.01）、0.52倍（95%CI=0.38-0.71,P<0.01）和0.58倍（95%CI=0.45-0.74,P<0.01）。结论: survivin基因-31C/G多态与CRC发病风险有关,-31G变异基因型是中国南方人群散发性结直肠癌独立保护因素。     

P53(rs1042522)基因多态性与子宫内膜异位症易感性的相关研究

目的 探讨肿瘤抑制基因P53 (tumor suppressor gene,P53)多态性与子宫内膜异位症(endometriosis,EM)遗传易感性的相关性.方法 应用等位基因特异性PCR技术结合DNA测序的方法对460例EM患者、650例无EM妇女(对照组)及113例子宫内膜癌患者的P53基因rs1042522位点(G/C)多态性进行分析.结果 各组均存在P53 (rs1042522) G/C多态性,且P53 (rs1042522)位点等位基因及基因型的分布在EM组与对照组之间差异有统计学意义(P值均小于0.01),其中等位基因C使EM发病风险提高1.179倍,等位基因G使其风险降低0.854倍；GC与GG基因型相比患EM的危险度增高1.548倍(95％CI为1.153～2.081),CC与GG基因型相比患EM的危险度增高1.865倍(95％CI为1.326～2.625).P53 (rs1042522)位点等位基因及基因型的分布在子宫内膜癌组与对照组之间差异有统计学意义(P值均小于0.01),且等位基因C使内膜癌发病风险提高1.278倍,而等位基因G使其风险降低0.772倍；GC与GG基因型相比患内膜癌的危险度增高2.074倍(95％CI为1.197～3.599),CC与GG基因型相比患内膜癌的危险度增高2.864倍(95％CI为1.557～5.263).P53 (rs1042522)位点等位基因及基因型的分布在EM组与子宫内膜癌组之间差异无统计学意义.结论 P53基因rs1042522位点(G/C)的单核苷酸多态性与EM遗传易感性存在相关性,且从遗传学角度分析,EM的发病机制可能更类似于肿瘤.     

福建汉族胰岛素样生长因子受体基因多态性与非小细胞肺癌易感性的关联研究

目的 探讨胰岛素样生长因子受体(insulin-like growth factor receptor,1GF-1R和IGF-2R)基因多态性与福建汉族人非小细胞肺癌(non-small-cell lung cancer,NSCLC)易感性的关系.方法 采用病例-对照研究,用聚合酶链反应-限制性片段长度多态性和DNA测序法检测福建籍汉族健康人258名和NSCLC患者260例的IGF-IR +1013和IGF-2R+1619两个位点的等位基因分布,探讨不同基因型与NSCLC发病的相关性.结果 (1) IGF-1R +1013(G/A)位点基因型和各等位基因的频率在两组中分布差异有统计学意义(P＜0.05).对于IGF-1R+ 1013(G/A)位点,与GG基因型者相比,GA基因型者NSCLC患病风险增加0.80倍(95％ CI:1.24～2.59,P=0.002),AA基因型者的风险增加2.59倍(95％ CI:1.78～7.26,P=0.000),而等位基因A携带者(GA+AA基因型)患病风险增加0.98倍(95％ CI:1.39～2.83,P=0.000).未发现IGF-2R +1619(G/A)位点各基因型和等位基因的频率分布在两组中差异有统计学意义(P＞0.05).(2)根据病理类型分层分析发现IGF-1R +1013(G/A)变异等位基因A携带者(GA+AA)患肺鳞癌的风险增加2.20倍(95％ CI:1.75～5.84,P=0.000),患肺腺癌的风险增加0.55倍(95％Ch l.00～2.41,P=0.049),患其他类型肺癌的风险增加0.96倍(95％CI:1.10～3.49,P=0.023).未发现两基因多态性与临床分期、淋巴结转移、远处转移有关(P＞0.05).(3)联合分析发现,IGF-1R+1013(G/A)和IGF-2R +1619(G/A)基因联合多态性与NSCLC的患病风险存在相关性(P=0.003).结论 IGF-IR+ 1013(G/A)位点变异等位基因A是肺癌发生的风险因素,IGF-1R+1013(G/A)和IGF-2R+1619(G/A)基因多态性对肺癌的发生有协同作用.     

p53基因第72密码子多态性与中国人肝细胞癌遗传易感性的相关性

目的探讨在有无慢性乙型肝炎的不同背景下郦基因第72密码子多态性（R72P）与中国人肝细胞癌（hepatocellular carcinoma，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469例HCC（HBsAg阴性110例、HBsAg阳性359例）与567名对照（HBsAg阴性430例、HBsAg阳性137例）的郦R72P基因型分布及差异。结果全样本以及HBsAg阳性样本的HCC与对照问的基因型分布差异均无统计学意义。但在HBsAg阴性人群中，72P是HCC发生的危险因素（OR=1，69，95％CI=1，25～2．27）。与R／R基因型相比，R／P的HCC风险增加至1．73倍（95％CI=0．96～3．11），P／P的HCC风险显著增加至3．29倍（95％CI=1．58～6．86）。携带72P的男性个体、HCC家族史阳性个体的HCC风险分别进一步增加至9．39倍（95％CI=3，08～28．62）和11，14倍（95％CI=1，62～76．67）。结论皿形72P增加HBsAg阴性中国人的HCC风险，并与男性、HCC家族史在增加HCC风险中有协同作用。     

MTHFR基因与中国女性复发性流产的关系及地域分布特点

目的探讨MTHFR基因C677T多态性与中国女性复发性流产之间的关联性,及地域分布特点。方法通过对万方和中国知网数据库检索相关已发表文献,在按照既定的标准进一步筛选后,将25篇文献纳入本次研究,进行MTHFR C677T基因多态性与复发性流产间的病例对照研究,及该基因在复发性流产人群中的地域性特点分析。结果对所纳入的25篇文献中共包括复发性流产患者1974人,正常对照1959人进行统计合并后结果显示,TT和CT基因型的女性其发生复发性流产的风险是CC基因型者的2.68倍和1.50倍,即OR值分别为2.68[95%CI(2.24,3.20)]、1.50[95%CI(1.29,1.72)];TT或CT基因型的女性其发生复发性流产的风险是CC型者的1.80倍[95%CI(1.58,2.05)];T等位基因携带者发生复发性流产的风险是C等位基因携带者的1.70倍[95%CI(1.55,1.86)]。国内不同地区之间的基因型频率和基因频率均有显著差异(P0.05)。表现为由南向北,女性的TT基因型频率逐渐上升,且华南地区女性TT基因型及T基因频率显著低于其他地区。结论 MTHFR基因是中国女性复发性流产的重要遗传风险因素,且北方女性的复发性流产风险显著高于南方女性。     

肥胖2型糖尿病患者TNF-αG-308A基因多态性与肾病相关性研究

为探讨肿瘤坏死因子-α(TNF-α)G-308A基因多态性与肥胖2型糖尿病患者肾病的关系.对香港新界地区388例2型糖尿病合并肾病患者及323例2型糖尿病无肾病患者,应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测TNF-αG-308A的基因多态性,以病例-对照方法研究其与肥胖2型糖尿病患者发生肾病的相关性.结果表明:(1)在肥胖与非肥胖者以及合并糖尿病肾病和无肾病患者之间,TNF-α G-308A多态性的基因型和等位基因频率无显著性差异;(2)GG和GA/AA基因型携带者之间,体重指数和尿白蛋白/肌苷比(ACR)水平无显著性差异;(3)在GG基因型携带者中,肥胖者的ACR和血肌苷水平显著高于非肥胖者(P＜0.005);而在GA/AA基因型携带者中,肥胖与非肥胖者间无显著性差异(P＞0.05);(4)多元逻辑回归分析显示,肥胖的GG基因型携带者患糖尿病肾病的危险性比非肥胖的GA/AA基因型携带者增加2.4倍(95%CI:1.3～4.5,P＝0.007).因此,在2型糖尿病患者中,肥胖的GG基因型携带者糖尿病肾病的患病风险增大.     

DNA错配修复基因MSH2和MLH1单核苷酸多态性与食管癌发生风险相关性研究

目的:探讨DNA错配修复基因MSH2和MLH1单核苷酸多态性对于食管癌易感性的潜在作用。方法:采用医院为基础的病例-对照研究方法,应用PCR-RFLP检测包括正常对照132例,食管癌患者169例MSH2c.2063TG和MLH1IVS14-19AG两个基因多态性位点的基因型。通过Logistic回归分析计算出比值比(OR)和95%置信区间(95%CI),估计不同基因型频率分布与食管癌发生风险的关系。结果:MSH2c.2063TG携带突变等位基因个体发生食管癌的风险是非携带者的3.24倍。MLH1IVS14-19AG突变等位基因携带者发生食管癌风险是非携带者的1.58倍。对MSH2和MLH1基因交互作用分析发现两突变基因型携带者发生食管癌风险大大增加并具有显著的统计学意义。结论:DNA错配修复基因MSH2c.2063G突变等位基因和MLH1IVS14-19G突变等位基因可能在促成食管癌发生过程起到一定作用。     

瘦素及瘦素受体基因多态性与重度子痫前期发病的相关性

目的 探讨血清瘦素水平和瘦素受体基因(leptin receptor gene,LEPR)Pro1019Pro (G1019A)和Gln223Arg(A223G)多态性与重度子痫前期发病的相关性.方法 采用聚合酶链反应-限制性片段长度多态性方法检测207例重度子痫前期和252名正常妊娠孕妇(对照组)LEPR基因G1019A和A223G多态性;ELISA法检测血清瘦素水平.结果 (1)重度子痫前期组患者血清瘦素水平显著高于正常对照组孕妇,新生儿体重明显低于对照组,早产儿发生率显著高于对照组(P＜0.01).(2) LEPR基因G1019A多态性GA基因型和G等位基因频率重度子痫前期组(33.8％和20.3％)显著高于对照组(19.8％和15.1％)(P＜0.01),携带GA型和G等位基因孕妇发生重度子病前期的风险较AA型和A等位基因个体分别增加2.04倍(95％CI:0.77～5.42)和1.43倍(95％CI:1.02～2.01).(3)LEPR基因A223G多态性AG基因型和A等位基因频率分布重度子痫前期组(19.3％和12.6％)明显低于对照组(34.5％和19.2％)(P＜0.01),携带AG型和A等位基因孕妇发生重度子痫前期的风险较GG型和G等位基因个体分别降低0.46倍(95％CI:0.30～0.71)和0.60倍(95％ CI:0.42～0.87).(4)LEPR G1019A和A223G多态性“1019AA+223AG”联合基因型频率重度子痫组(6.8％)显著低于对照组(24.6％)(P＜0.01),携带者发生重度子痫前期的风险较其它联合基因型个体低0.22倍,95％CI:0.12～0.39;而“1019GA+223GG”联合基因型频率重度子痫前期组(22.2％)显著高于对照组(11.9％)(P＜0.05),携带者发生重度子病前期的风险增加2.10倍,95％CI:0.78～3.45.(5)LEPR基因G1019A和A223G多态性各基因型之间收缩压、舒张压、体重指数和血清瘦素水平比较差异均无统计学意义(P＞0.05).结论 血清中高浓度的瘦素水平和LEPR基因G1019A、A223G多态性与重度子痫前期发病可能存在关联,血清瘦素水平与LEPR基因G1019A和A223G多态性无关;G1019A GA基因型和“1019GA+ 223GG”联合基因型可能是重度子痫前期的易感基因型.     

TP53 polymorphisms and lung cancer risk: a systematic review and meta-analysis

To examine the risk of lung cancer associated with the codon 72, intron 6 and intron 3 TP53 polymorphisms a meta-analysis of published case-control studies was undertaken. The principle outcome measure was the odds ratio (OR) for the risk of lung cancer using homozygosity of the 'wild-type allele' as the reference group. Data from 13 studies detailing the relationship between lung cancer and the codon 72 polymorphism of TP53 and three studies examining the intron 3 and 6 polymorphisms of TP53 were analysed. The ORs of lung cancer associated with the Pro-Pro and Pro-carrier genotypes of codon 72 were 1.18 [95% confidence interval (CI) 0.99-1.41] and 1.02 (95% CI 0.86-1.20), respectively. The ORs of lung cancer associated with homozygous and variant allele carrier genotypes of the intron 6 (MspI RFLP) polymorphism were 1.13 (95% CI 0.55-2.27) and 1.30 (95% CI 0.75-2.26) and of the intron 3 (16 bp duplication) polymorphism were 1.50 (95% CI 0.76-2.97) and 1.11 (95% CI 0.53-2.35), respectively. Although polymorphic variations in TP53 represent attractive candidate susceptibility alleles for lung cancer the results from this analysis provide little support for this hypothesis. Additional well-designed studies based on sample sizes commensurate with the detection of small genotypic risks may allow a more definitive conclusion.     

Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer

The tumor suppressor TP53 pathway plays a crucial role in preventing carcinogenesis through its ability to impose cell cycle arrest and apoptosis following DNA damage and oncogene activation. MDM2 is a key negative regulator of the TP53 pathway and is overexpressed in many cancers as oncoprotein. We investigated the association between genetic variation in the promoter region of MDM2 (c.-5+309G>T, rs2279744:g.G>T) and the coding region of TP53 (c.215G>C, rs1042522:g.G>C, designated Arg72Pro) and the risk of developing lung cancer. The genotypes of 1,106 patients and 1,420 controls were determined by tetra-primer amplification refractory mutation system (ARMS)-PCR or PCR-based restriction fragment length polymorphism (RFLP). Associations with risk of lung cancer were estimated by logistic regression. We observed an increased lung cancer risk associated with the MDM2 GG (odds ratio [OR] = 1.83, 95% confidence interval [CI] = 1.45-2.32) and TG (OR = 1.33, 95% CI = 1.09-1.63) genotypes. An increased risk was also associated with the TP53 Pro/Pro genotype (OR = 1.47, 95% CI = 1.17-1.85, P = 0.003) compared to the Arg/Arg genotype. The gene-gene interaction of MDM2 and TP53 polymorphisms increased lung cancer risk in a supermultiplicative manner (OR for the presence of both MDM2 GG and TP53 Pro/Pro genotypes = 4.56, 95% CI = 2.76-7.54). Significant interactions were observed between these polymorphisms (respectively and jointly) and smoking (OR = 10.41, 95% CI = 5.26-20.58) for smokers with both the MDM2 GG and TP53 Pro/Pro genotypes. In conclusion, genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 contribute to the risk of developing lung cancer.     

p53基因第72位密码子多态与食管癌风险

目的 研究p53基因第７２位密码子Ａrg/Pro多态与食管癌遗传易感性的关系。方法 采用聚合酶链反应－－限制性片段长度多态性方法检测了９１例食管癌患者与２０４名正常对照组的p53 Arg/Pro基因型分布及差异。结果 正常对照组p53 Pro等位基因频率（０.588）与病例组（０.480）比较差异无显著性（Ｐ＝０.11）。但３种p53基因型频率在病例组和对照组的分布差异有显著性，病例组的Ｐro/Pro基因型频率（３９.6％）显著高于对照组（２１.1%）。携带Ｐro/Pro纯合变异基因型者患食管癌的风险比携带Ａrg/Arg纯合野生基因型者高２倍[校正比值比（odds ratio,OR）为２.18,95%可信区间（confidemce interval,CI）为１.10-4.35。杂合子基因型（Ａrg/Pro）与食管癌的遗传易感性无关（校正ＯＲ＝０.84％，９５％ＣＩ＝０.42－１.68）。吸烟增加食管癌风险（ＯＲ＝２.30,95%CI=1.30-4.12)，但与Ｐro/Pro基因型无协同作用。结论 p53基因第７２位密码子纯合突变是中国人的食管癌易感因素。     

Analysis of the codon 72 polymorphism of the TP53 gene in patients with endometriosis

Endometriosis is a benign gynaecologic disease that is associated with a certain risk for malignant degeneration. The disease has a genetic background, but the locations of possible genomic aberrations are still poorly clarified. In this context, the proline form of TP53 codon 72 polymorphism has been recently associated with the risk of developing endometriosis. In this case-control study, we aimed to investigate further the potential association between endometriosis and this polymorphism in order to evaluate whether this genetic variant may influence the susceptibility to the disease. Genomic DNA was obtained from a consecutive series of 303 Italian Caucasian women of reproductive age who underwent laparoscopy for benign gynaecological pathologies. Endometriosis was defined according to the criteria of Holt and Weiss [Holt V and Weiss NS (2000) Recommendations for the design of epidemiologic studies of endometriosis. Epidemiol 11,654-659] for the definite disease. Subjects of similar age without laparoscopic evidence of the disease served as control group. Molecular analysis of TP53 codon 72 polymorphism was performed by PCR amplification. Endometriosis was documented in 151 women. We found no statistically significant difference in the distribution of TP53 codon 72 polymorphism genotypes between patients with and without endometriosis. The respective proportions of arginine homozygotes, heterozygotes and proline homozygotes were 55.6, 39.7 and 4.6% in the group with endometriosis and 59.9, 30.9 and 9.2% in the control group. Moreover, no statistically significant association was demonstrated between TP53 codon 72 polymorphism and the various clinical manifestations of the disease, although a non-significant tendency towards an increased frequency of the proline allele was observed in association with specific manifestations of the disease reflecting a more severe form. Our results suggest that the TP53 codon 72 polymorphism does not confer genetic susceptibility to endometriosis in the Italian population. However, a possible susceptibility role of this polymorphism in endometriosis development towards very severe forms cannot be ruled out.     

Klotho gene polymorphisms are related to colorectal cancer susceptibility

Aim: The purpose of this study was to investigate the relationship of Klotho gene G-395A and C1818T polymorphisms with colorectal cancer (CRC) susceptibility. Methods: 125 CRC patients and 125 controls were enrolled in the study. G-395A and C1818T polymorphisms were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology. Haploview software was utilized to conduct linkage disequilibrium and haplotype analysis. Odds ratio (OR) and 95% confidence interval (95% CI) were used to analyze the correlation of genotypes and haplotypes with CRC susceptibility. Results: AA and GA genotypes of G-395A polymorphisms were related with CRC risk (AA: OR = 4.161, 95% CI = 1.437-12.053; GA: OR = 1.958, 95% CI = 1.133-3.385). The frequency of A allele was much higher in case group, compared with controls (31.2% vs.17.6%) and the value of OR AND 95% CI suggested that A allele served as a risk factor for CRC (OR = 2.123, 95% CI = 1.393-3.236). Haplotypes analysis indicated that A-C and A-T haplotypes were significantly associated with risk of CRC (OR = 1.822, 95% CI = 1.124-2.954; OR = 2.877, 95% CI = 1.340-6.176). Conclusion: G-395A polymorphism of Klotho gene could increase the risk of CRC.     

Genetic polymorphisms of TP53-binding protein 1 (TP53BP1) gene and association with breast cancer risk

In the present study, we evaluated the association between the TP53BP1 Glu353Asp and T-885G polymorphisms and breast cancer risk as well as with the clinicopathological characteristics of the patients. Genotyping of these polymorphisms was performed on 387 breast cancer patients and 252 normal and healthy women who had no history of any malignancy using PCR-RFLP method in a hospital-based Malaysian population. Breast cancer risk was not observed among women who were heterozygous (OR(adj) = 0.887; 95% CI, 0.632-1.245) or homozygous (OR(adj) = 1.083; 95% CI, 0.595-1.969) for Asp allele, and those carriers of Asp allele (OR(adj) = 0.979; 95% CI, 0.771-1.243). Similarly, women who were TG heterozygotes (OR(adj) = 1.181; 95% CI, 0.842-1.658) or GG homozygotes (OR(adj) = 1.362; 95% CI, 0.746-2.486) and carriers of G allele (OR(adj) = 1.147; 95% CI, 0.903-1.458) were not associated with increased risk of breast cancer. Asp allele genotype was significantly associated with ER negativity (p = 0.0015) and poorly differentiated tumours (p = 0.008), but G allele genotype was not associated with the clinicopathological characteristics. In conclusion, Glu353Asp and T-885G polymorphic variants might not have an influence on breast cancer risk, thus might not be potential candidates for cancer susceptibility. Glu353Asp variant might be associated with tumour aggressiveness as defined by its association with ER negativity and poorly differentiated tumours.     

Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic

The Czech Republic has one of the highest incidences of colorectal cancer (CRC) in the world. To assess the role of genetic variants on the disease, we genotyped polymorphisms in the TP53 (rs17878362:A₁>A₂, rs1042522:G>C, rs12947788:C>T, and rs17884306:G>A), CDKN1A (rs1801270:C>A and rs1059234:C>T), and CDKN2A (rs3731249:G>A, rs11515:C>G, and rs3088440:C>T) genes in 614 hospital‐based CRC cases and 614 matched controls from the country. Despite the tendency toward differential distribution of variant allele frequencies for some polymorphisms, none was significantly associated with CRC risk. We observed differential distribution of major haplotypes arising from four polymorphisms in the TP53 gene between cases and controls (global P<0.0001). The two most common haplotypes, A₁GCG and A₂CCG, were present in 81% of the cases compared to 71% of the controls. In comparison to the most common haplotype (A₁GCG), the haplotype A₂CCG was associated with an increased risk (odds ratio [OR], 1.40; 95% confidence interval [CI], 1.07–1.82), while the four other haplotypes A₁CCG (OR, 0.60; 95% CI, 0.45–0.79), A₂GCG (OR, 0.53; 95% CI, 0.35–0.81), A₁GTG (OR, 0.31; 95% CI, 0.15–0.64), and A₁GCA (OR, 0.19; 95% CI, 0.07–0.51) were associated with a decreased risk. The effect of haplotypes in the TP53 gene was similar in colon (global P<0.0001) and rectal cancers (P=0.006). No association with the disease was observed with haplotypes of the CDKN1A and CDKN2A polymorphisms. The results from this study suggest that prevalent haplotypes within the TP53 gene may modulate CRC risks in the population. Hum Mutat 0, 1–9, 2009. © 2009 Wiley‐Liss, Inc.     

Common polymorphisms in the MDM2 and TP53 genes and the relationship between TP53 mutations and patient outcomes in glioblastomas

MDM2 SNP309 is associated with younger age of tumor onset in patients with Li-Fraumeni syndrome, and TP53 codon 72 polymorphism decreases its apoptotic potential. Glioblastomas frequently show genetic alterations in the TP53 pathway. In the present study, we assessed MDM2 SNP309 in 360 glioblastomas, and correlated these with patient age and survival, as well as other alterations in the TP53 pathway. Frequencies of the MDM2 SNP309 T/T, T/G and G/G genotypes in glioblastomas were 40%, 46% and 14%, respectively. Multivariate analysis showed that MDM2 SNP309 G/G allele was significantly associated with favorable outcome in female glioblastoma patients (hazard ratio 0.54; 95% CI = 0.32–0.92). There was a significant association between MDM2 SNP309 G alleles and TP53 codon 72 Pro/Pro in glioblastomas. Glioblastoma patients with TP53 codon 72 Pro/Pro genotype were significantly younger than Arg/Arg carriers (mean 50.2 vs. 56.1 years; P  = 0.018). Multivariate analysis showed that those with TP53 codon 72 Arg/Pro allele had significantly shorter survival than those with Arg/Arg allele (hazard ratio 1.35; 95% CI = 1.07–1.71). Detailed analyses revealed that TP53 codon 72 Pro allele was significantly associated with shorter survival among patients with glioblastomas carrying a TP53 mutation, and among those treated with surgery plus radiotherapy.