Objective To investigate the relationship of p53 codon 72 polymorphism and susceptibility to gastric cancer in high incidence area of Hexi area of Gansu province. Methods The Arg/Pro polymorphism of p53 gene was detected by real-time PCR in 140 patients with gastric cancer, 110 patients with gastric precancerous lesion and 125 healthy controls; Helicobacter pylori (Hp) infection was detected by Warthin-Starry silver method． Results The Pro allele frequencies of p53 gene in gastric cancer cases (0.543) were higher than those in gastric precancerous lesion (0.482) and controls (0.472). The Pro genotype had a more than 1.846 fold increased risk of gastric cancer 〔OR=1.846; 95% 〗CI (1.006-3.387); P =0.046〕． With statistical analysis， the genotype of p53 gene was correlated with location and Laurens histological type （ P ＜ 0.05）. A significantly higher risk of gastric cancer was also seen in cases with p53 Pro genotype, food, Hp infection, positive mind factor and positive family history． Conclusion There is a b correlation between the p53 gene codon 72 Arg/Pro polymophism and susceptibility to gastric cancer in Hexi area of Gansu province and the Pro/Pro genotype may be one of the major risk factors in patients with gastric cancer.
Objective To review the research progress of bone morphogenetic protein (BMP) and the liability of ossification of the posterior longitudinal ligament (OPLL). Methods Recent literature concerning BMP and the liability of OPLL was reviewed, analysed, and summarized. Results The single nucleotide polymorphisms (SNPs) of BMP gene may produce a minor cumulative effect and increase individual susceptibility to OPLL. A variety of environmental factors can promote the occurrence and development of OPLL by increasing the expression of BMP gene. Conclusion The SNPs of BMP gene may increase individual susceptibility to OPLL. However, interaction of cumulative effect of the SNPs and environmental factors can promote the liability to OPLL.
Objective To investigate the relationship between p53 codon 72 polymorphism and susceptibility to keloid. Methods The p53 genotypes were detected by polymerase chain reactionreverse dot blot(PCRRDB) and DNA direct sequencing among 15 healthy controls and 15 patients with keloid. Results The frequency of the Proallele(P=0.035) and Pro/Pro genotype(P=0.030) in patients was significantly higher than that in the controlls. There was no significant difference in the frequency of Pro/Arg and Arg/Arg genotypes between patients and controls. Conclusion The p53 gene codon 72 polymorphism may play a role in susceptibility to keloid.
Objective To investigate the correlation between single nucleotide polymorphism (SNP) of complement factor H (CFH) gene and exudative age-related macular degeneration (AMD) susceptibility. Methods This is a retrospective case control study. 136 exudative AMD patients (AMD group) and 140 age-and sex- matched normal subjects (control group) were enrolled in this study. The peripheral blood was collected, polymorphism genotypes and frequency of CFH Y402H (rs1061170), CFH-257Cgt;T(rs3753394) and CFH IVS15 (rs1329428)were measured by polymerase chain reaction (PCR) and allele-specific restriction endonuclease digestion. The SHEsis software was performed on haplotype construction to analyze the frequency. Results There are TT, TC, CC genotypes and T, C allele in CFH Y402H (rs1061170); CC, CT, TT genotypes and C, T allele in CFH-257Cgt;T (rs3753394); AA, AG, GG genotypes and A, G allele in CFH IVS15 (rs1329428). The differences of genotypes and allele frequency between 2 groups were statistically significant (P＜0.05). The TC genotype in CFH Y402H, TT genotype in CFH-257Cgt;T (rs3753394) and GG genotype in CFH IVS15 (rs1329428) were associated with exudative AMD susceptibility (OR=4.11,2.55,3.11；P＜0.05). The T,C and G allele were the risk alleles (OR=3.14,1.72,1.79；P＜0.05). The differences of frequency between TCG, CTG and CTA haplotype were statistically significant(chi;2=10.53,6.60, 32.82；P＜0.05）. Conclusion There is correlation between SNPs of CFH gene and exudative AMD susceptibility.
Objective To explore the association between manganese superoxide dismutase (MnSOD) Val-9Ala polymorphism and breast cancer risk and to investigate the interaction with menopausal status by meta-analysis. Methods Such databases as The Cochrane Libtary (Issue1, 2010), Pubmed, CBM, CNKI and WanFang Data were searched from the date of their establishment to October, 2010, and the case-control studies of MnSOD Val-9Ala polymorphism and breast cancer risk were collected according to the inclusion and exclusion criteria. Then the quality of the included trials was assessed and meta-analysis was performed by RevMan 4.2.10 software. Results A total of 14 studies involving 17 842 patients were included. The results of meta-analyses showed no significant relation between MnSOD Val-9Ala polymorphism and the breast cancer susceptibility (Val/Ala vs. Val/Val: OR=1.04, 95%CI 0.93 to 1.17; Ala/Ala vs. Val/Val: OR=1.12, 95%CI 0.95 to 1.33; Ala/Ala vs. Val/Ala+Val/Val: OR=1.06, 95%CI 0.93 to 1.20; Val/Ala+ Ala/Ala vs. Val/Val: OR=1.06, 95%CI 0.94 to 1.10). However, in the subgroup analysis, the breast cancer risk significantly increased for premenopausal women (Val/Ala+Ala/Ala vs. Val/Val: OR=1.15, 95%CI 1.01 to1.31). Conclusion This meta-analysis suggests that the MnSOD Val-9Ala polymorphism is not significantly associated with the breast cancer susceptibility, but it may increase the risk of breast cancer in the presence of menopausal state.
Objective To summarize the advancement of hereditary thrombophilia. Methods Relevant literatures about hereditary thrombophilia published recently domestic and abroad were reviewed and analyzed. Results The hereditary risk factors of venous thromboembolism were different among different races. In western population, the main risk factors were activated protein C resistance (APC-R) and mutation of factor V Leiden, methylene tetrahydrofolate reductase polymorphism (C677T) and prothrombin G20210A. While in Chinese population, the disorder of protein C system and hyperhomocysteinemia were the major genetic risk factor. The existence of multiple genetic risk factors increased the incidence of primary and recurrent venous thromboembolism. Conclusion Further study on the relations between the hereditary risk factors and thrombophilia will be very important for prediction and prevention of the venous thromboembolism.
目的探讨DNA损伤修复基因XRCC1 Arg194Trp位点多态性与结直肠癌易感性的关系。 方法选取120例结直肠癌患者与120例正常对照者进行对比研究。取外周血提取DNA，采用限制性片段长度多态性聚合酶链反应（PCR-RFLP）技术对XRCC1 Arg194Trp基因多态性进行检测分析，比较不同基因型与结直肠癌易感性的关系。 结果2组观察对象在年龄、性别、吸烟、饮酒、饮食特点等常见暴露因素方面的差异均无统计学意义（P＞0.05），变异基因型Arg/Trp＋Trp/Trp出现频率在2组观察对象中分别为30.00%和24.17%，差异无统计学意义（P＞0.05）。 结论XRCC1 Arg194Trp位点多态性与结直肠癌的易感性并无显著相关性。
ObjectiveTo investigate the correlation of X-ray repair cross-complementing gene 1 (XRCC1-Arg399Gln, Arg280His, and Arg194Trp) polymorphisms and susceptibility to gastric cancer. MethodsOne hundred and twenty patients with gastric cancer were included in study group, 120 healthy volunteers were included in control group. The DNA was extracted from peripheral blood. Arg399Gln, Arg280His, and Arg194Trp gene polymorphisms were detected and analyzed using polymerase chain reaction-restriction fragment length polymorphism technique, and the susceptibility between different genotypes and gastric cancer was compared in two groups. ResultsThe age, gender, smoking, drinking, diet, and other common characteristics of exposure factors had no significant differences in two groups (P > 0.05). The mutation locus genotype frequencies of Arg399Gln and Arg280His had no significant differences between two groups (P > 0.05). However, the mutation locus genotype frequencies of Arg/Trp, Trp/Trp, and Arg/Trp+Trp/Trp were higher and the mutation locus genotype frequency of Arg/Arg was lower in the study group as compared with the control group (P < 0.05). ConclusionThe preliminary results from this study shows that XRCC1 Arg399Gln and Arg280His polymorphisms are not correlated with susceptibility to gastric cancer; However, Arg194Trp polymorphism is correlated with susceptibility to gastric cancer.