Lack of Association of Common Polymorphisms in MUC1 Gene with H. pylori Infection and Non-cardia Gastric Cancer Risk in a Chinese Population

Several lines of evidence support the notion that MUC1 is often aberrantly expressed in gastric cancer, and itis a ligand for Helicobacter pylori. Genetic variation in MUC1 gene may confer susceptibility to H. pylori infectionand gastric cancer. We assessed the association of common polymorphisms in MUC1 gene with H. pylori infectionand non-cardia gastric cancer using an LD-based tag SNP approach in north-western Chinese Han population.A total of four SNPs were successfully genotyped among 288 patients with non-cardia gastric cancer and 281age- and sex-matched controls. None of the tested SNPs was associated with H. pylori infection. SNP rs9426886was associated with a decreased risk of non-cardia gastric cancer, but lost significance after adjustment formultiple testing. Overall, our data indicated that common genetic variations in MUC1 gene might not make amajor contribution to the risk of H. pylori infection and non-cardia gastric cancer in our studied population.     

p73及p53基因多态性与甘肃武威人群胃癌风险相关性研究

[目的]评价p73基因G4C14-to-A4T14双核苷酸多态性（p73 G4A DNP）和p53基因第72密码子单核苷酸多态性（p53 Arg72Pro SNP）与甘肃武威市人群胃癌高发风险及胃癌不同病理亚型的相关性。[方法]p73G4ADNP的基因分型采用两双相对引物多聚酶链式反应法,p53 Arg72Pro SNP基因分型采用PCR-RFLP法。[结果]共检查胃癌病例385例以及健康对照412人。胃癌组中弥漫型胃癌305例（79.22%）,肠型胃癌80例（20.78%）。对照组p73AT/AT、AT/GC及GC/GC基因型的频率分别为28.15%、47.09%和24.76%;胃癌组分别为21.98%、45.04%和32.98%;以AT/AT作为指示物,胃癌组和弥漫型胃癌的GC/GC纯合子基因型频率均高于对照组,优势比（OR）分别为1.71（95%CI,1.16～2.51）和1.87（1.24～2.81）。对照组p53基因Pro/Pro、Pro/Arg以及Arg/Arg基因型的频率分别为27.18%、50.49%及22.33%;胃癌组则分别为21.82%、45.45%和32.73%;以Pro/Pro为指示物,胃癌组和弥漫型胃癌Arg/Arg基因型频率显著高于对照组,OR分别为1.83（95%CI,1.24～2.70）和2.25（95%CI,1.47～3.43）。[结论]携带p73 G4A GC/GC基因型或p53 Arg/Arg基因型可能会增加胃癌,尤其是弥漫性胃癌的发病风险。     

Association of Vitamin D Receptor Gene Polymorphisms with Prostate Cancer Risk in the Pakistani Population

Background: Vitamin D receptor (VDR) gene has been a subject of extensive pharmacogenetic researchrecently. Association studies between different types of cancers including prostate cancer (PCa) and VDR genepolymorphism have also been conducted. The objective of this study was to find possible associations betweenPCa and VDR gene polymorphisms in the Pakistani population. Materials and Methods: A total of 162 subjects,including prostate cancer patients and controls, were genotyped for Apa I, Taq I and Fok I polymorphisms inthe VDR gene using allele specific PCR, PCR-RFLP and direct DNA sequencing. Allelic frequencies were testedfor Hardy-Weinberg equilibrium and associations between the genetic markers and PCa were calculated usinglogistic regression. Results: Apa I CC genotype was found to have strongest association with PCa risk, and “A”genotype was found to have protective effect. Fok I and Taq I did not have appreciable levels of association withPCa, although Taq I “TC” heterozygotes seemed to have some protective effect. Similarly the “C” allele of Fok Ialso seemed to have protective effect. Conclusions: To our knowledge, this is the first report showing associationbetween VDR gene polymorphisms and PCa in Pakistan. Our findings may be somewhat skewed because ofsmall sample size and tendency of consanguineous marriages in Pakistani society; nevertheless, it shows thetrend of association and protective effects of certain VDR gene polymorphisms against PCa.     

Association of Interleukin-10 Gene Haplotype with Gastric Cancer in a Chinese Population

OBJECTIVE Interleukin-10 (IL-10) is a multifunctional cytokine with both immunosuppressive and antiangiogenic functions.Previous studies have reported that IL-10 levels are signifi cantly elevated in patients with gastric cancer (GC). It has also been confirmed that interindividual variations in IL-10 production are genetically attributed to the polymorphisms of IL-10 gene.Therefore, this study was designed to investigate whether the polymorphisms of IL-10 gene were associated with susceptibility to GC in the Chinese population.METHODS The serum levels of IL-10 were measured by radioimmunoassay. The single nucleotide polymorphisms (SNPs) at positions -1082A/G, -819T/C and -592A/C in the IL-10 gene promoter were analyzed using polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP).RESULTS 220 patients with gastric cancer and 180 healthy controls were included in this study. The serum levels of IL-10 were signifi cantly higher in GC patients than healthy controls (Z = -19.13, P < 0.001). Single SNP analysis showed that the -1082G allele, -1082AG and -819CC genotypes significantly increased in patients with GC (P = 0.029, 0.021, 0.039 respectively). In a logistic regression analysis adjusted for age and sex, the -1082AG genotype was associated with an odds ratio of 1.974 (95% CI,1.14-3.391; P = 0.014), and the -819CC genotype with an odds ratio of 2.496 (95% CI, 1.222-5.102; P = 0.012) for GC. Furthermore,haplotype analysis revealed that at least five haplotypes (ATA,ACC, GCC, ACA and ATC) were existent in this population.Also that the GCC haplotype was associated with a signifi cantly increased risk of GC as compared with the ATA haplotype (OR =1.90; 95% CI, 1.11-3.27; P = 0.02).CONCLUSION The results indicate that the gene haplotype of IL-10 may contribute to the susceptibility to GC in the Chinese population.     

Association of mir-499 and mir-149 Polymorphisms with Cancer Risk in the Chinese Population: Evidence from Published Studies

Meta-analyses have shown that microRNA polymorphisms have variable effects in different population. Yet,no meta-analysis investigated the association of two common polymorphisms of miRNA, mir-499 rs3746444polymorphism and mir-149 rs2292832 polymorphism, with cancer risk in the Chinese population. We searchedthe PubMed, Web of Knowledge, MEDLINE, CNKI databases, as well as Cochrane library, updated on December31, 2012 for assays regarding cancer risk association with these two common polymorphisms in the presentmeta-analysis. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to explore the strengthof associations. The results showed that rs3746444 polymorphism was associated with increased cancer risk(dominant model: GG/AG vs. AA: OR = 1.43, 95% CI: 1.14-1.80; recessive model: GG vs. AG/AA: OR = 1.54,95% CI: 1.04-2.30; homozygote model: GG vs. AA: OR = 1.69, 95% CI: 1.10-2.60; heterozygote model: AG vs.AA: OR = 1. 35, 95% CI: 1.09-1.67), and rs3746444 was associated with liver cancer in the subgroup of cancertypes. For the rs2292832 polymorphism, the results showed no significant risk association in both overall pooledanalysis and subgroup of cancer types, smoking status, gender and tea drinking status in the Chinese population.This meta-analysis suggested that the rs3746444 GG genotype is associated with increased cancer risk, especiallyliver cancer, while the rs2292832 polymorphism showed no association with cancer risk in Chinese.     

Association of Risk of Gastric Cancer and Consumption of Tobacco,Alcohol and Tea in the Chinese Population

This study aimed at summarizing epidemiological research findings on associations between tobacco, alcoholand tea consumption and risk of gastric cancer (GC) in the Chinese population. The review searched PubMed,Embase, China National Knowledge Infrastructure (CNKI) and China Biology Medicine (CBM) databases andreference lists of review papers for all studies published in English or Chinese languages. Information extracted,via two independent researchers, from retrieved articles included first author, year of publication, study design,sample size, source of controls and adjusted odds ratio (OR) or relative risk (RR) with the corresponding 95%confidence intervals (CIs) for each category. Statistical analyses used software STATA version 12.0. The systematicsearch found 89 articles containing 25,821 GC cases and 135,298 non-cases. The overall random effects in termsof pooled OR and 95%CI for tobacco, alcohol and tea consumption were 1.62 (95%CI: 1.50-1.74), 1.57 (95%CI:1.41-1.76) and 0.67 (95%CI: 0.59-0.76) respectively; while the heterogeneity among included studies rangedfrom 80.1% to 87.5%. The majority of subgroup analyses revealed consistent results with the overall analyses.All three behavioral factors showed statistically significant dose-dependent effects on GC (P<0.05). The studyrevealed that tobacco smoking and alcohol drinking were associated with over 1/2 added risk of GC, while teadrinking conferred about 1/3 lower risk of GC in the Chinese population. However, these results should beinterpreted with caution given the fact that most of the included studies were based on a retrospective designand heterogeneity among studies was relatively high.     

Interleukin-10 Gene Promoter Polymorphisms and Risk of Gastric Cancer in a Chinese Population: Single Nucleotide and Haplotype Analyses

Objectives: Interleukin (IL) -10 is a potent cytokine with a dual ability to immunosuppress or immunostimulate.We aimed to explore the association of IL10 promoter polymorphisms with risk of gastric cancer (GC) in a Hanpopulation in Southwestern China. Methods: We enrolled 308 pairs of GC and control subjects from four hospitalsand a community between October 2010 and August 2011 in a 1:1 matched case-control design. Demographicinformation was collected using a designed questionnaire. IL10-592 A>C and IL10-1082 A>G polymorphismswere determined by Sequenom MassARRAY analysis. Results: Patients with GC reported statistically higherproportions of family history of cancer (29.9% versus 10.7%, P<0.01) and alcohol drinking (54.6% versus 43.2%,P<0.01) than did controls. Similar results were observed in comparison between non-cardia GC patients andcontrols (PC and IL10-1082 A>G were not associated withoverall GC risk (adjusted OR, 0.94, 95% CI, 0.66-1.33; adjusted OR, 1.00, 95% CI, 0.62-1.60). Sub-analysisshowed that the IL10-592 AC/CC variant genotype was associated with decreased non-cardia GC risk (adjustedOR, 0.58; 95% CI, 0.36-0.95). No association was found between any of the IL10 haplotypes established fromtwo polymorphisms and risk of non-cardia GC. Conclusions: In conclusion, our data do not link the two SNPs ofIL10-592 and IL10-1082 with overall GC risk. We demonstrate that IL10-592 polymorphism is associated withprotective effect against non-cardia GC. Our findings may offer insight into risk associated with the developmentof GC in this region.     

Polymorphisms of XRCC1 and ADPRT Genes and Risk of Noncardia Gastric Cancer in a Chinese Population: a Casecontrol Study

Objective: Gastric cancer (GC) is one of the most common malignancies and its mortality ranks third amongall cancers in China. We previously noted that XRCC1 Arg194Trp was associated with GC risk in WesternChina in a study on XRCC1 Arg194Trp and ADPRT Val762Ala. We aimed to further explore the associationof these polymorphisms with risk of the noncardia subtype. Methods: We enrolled 176 noncardia GC patientsand 308 controls from four hospitals and a community between October 2010 and August 2011. Genotyping wasperformed in a 384-well plate format on the Sequenom MassARRAY platform. A self-designed questionnairewas utilized to collect epidemiological data from the subjects regarding demographic factors and potential riskfactors. Results: Subjects were aged 56.8±11.8 (mean ± standard deviation) and 57.6±11.1 years in the caseand control groups, respectively. Individuals carrying the XRCC1 Trp/Trp or Arg/Trp variant genotype wereat significantly increased risk of noncardia GC (adjusted OR, 1.48; 95% CI, 1.00-2.17), after adjustment forfamily history of cancer, drinking, and smoking. The increased risk of XRCC1 Arg194Trp variant genotypewas more pronounced among subjects below 60 years old (adjusted OR, 1.78; 95% CI, 1.07-2.96), comparedto older individuals. ADPRT Val762Ala variants (Ala/Ala or Val/Ala) were not associated with noncardia GC(adjusted OR, 1.03; 95% CI, 0.69-1.54). Conclusions: Our study suggests that XRCC1 Arg194Trp is a geneticsusceptibility factor for developing noncardia GC in Han Chinese in Western China. In particular, individualswith the XRCC1 Arg194Trp variant genotype are at increased risk for GC below 60 years old.     

Equivocal Association of RAD51 Polymorphisms with Risk of Esophageal Squamous Cell Carcinoma in a Chinese Population

Aim: To study the contribution of genetic variation in RAD51 to risk of esophageal squamous cell carcinoma(ESCC). Methods: Three single nucleotide polymorphisms (SNPs) in RAD51 (rs1801320, rs4144242 andrs4417527) were genotyped in 316 ESCC patients and 316 healthy controls in Anyang area of China using PCRRFLP(polymerase chain reaction-restriction fragment length polymorphism). Demographic variables betweencases and controls were statistically compared by T test and Chi-square test. Hardy-Weinberg equilibrium wasevaluated by the Chi-square test. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated tomeasure any association with ESCC. Haplotype frequencies were estimated by Phase 2.1. Result: The genotypefrequencies of rs1801320, rs4144242 and rs4417527 in patients with ESCC demonstrated no significant differencesfrom those in control group (P>0.05). When the haplotypes of these three SNPs were constructed and theirrelationships with ESCC risk investigated, however, CGG was observed to increase the risk (P=0.020, OR=2.289). Conclusions: There was no association between the three SNPs of RAD51 and ESCC susceptibility in ourChinese population. However, the CGG haplotype might be a risk factor.     

Association Analysis of Common Genetic Variations in MUC5AC Gene with the Risk of Non-cardia Gastric Cancer in a Chinese Population

Several lines of evidence suggest that genetic variation in MUC5AC gene might contribute to the risk of gastriccancer. We conducted a case-control study to evaluate the relationship between common genetic variations inMUC5AC gene and non-cardia gastric cancer using an LD-based tagSNP approach in Baotou, north-westernChina. We genotyped 12 tagSNPs by TaqMan method among 288 cases with non-cardia gastric cancer and 281normal controls. Unconditional logistic regression was used to calculate odds ratios (ORs) and 95% confidenceintervals (CIs) for non-cardia gastric cancer risk in association with alleles, genotypes and haplotypes. Weobserved that the frequencies of rs3793964 C allele and rs11040869 A allele were significantly lower in cases thanin controls. Meanwhile, minor allele homozygotes of rs3793964 and rs11040869 were significantly associated witha decreased risk of non-cardia gastric cancer when compared with their major allele homozygotes. Furthermore,a statistically significantly protective effect of rs885454 genotypes on non-cardia gastric cancer was also observed(for CT vs. CC: OR=0.581, 95%CI=0.408-0.829; for CT/TT vs. CC: OR=0.623, 95%CI=0.451-0.884). Our resultsindicated that some common genetic variations in the MUC5AC gene might have effects on the risk of non-cardiagastric cancer in our studied population.     

Impact of ESR1 Polymorphisms on Risk of Breast Cancer in the Chinese Han Population

BackgroundThe estrogen receptor-1 (ESR1) gene encodes estrogen receptor-α, which is a major biomarker in the development of breast cancer. This study aimed to investigate the effect of ESR1 polymorphisms on breast cancer in Chinese Han women.Materials and MethodsWe genotyped 4 candidate single nucleotide polymorphisms (SNPs) in ESR1 among 503 patients with breast cancer and 503 healthy people using the Agena MassARRAY platform. The association between ESR1 polymorphisms and breast cancer risk was evaluated using odds ratios (ORs) and 95% confidence intervals (95% CIs) under 4 genetic models. The HaploReg v4.1 and GEPIA database were used for SNP functional annotation and ESR1 expression analysis, respectively.ResultsThe T allele of rs9383938 in ESR1 was significantly associated with an increased breast cancer risk (OR, 1.26; 95% CI, 1.05-1.50; P = .013). In genetic models, rs9383938 increased breast cancer risk in the codominant model (OR, 1.54; 95% CI, 1.07-2.22; P = .021), the dominant model (OR, 1.31; 95% CI, 1.01-1.68; P = .040), and the additive model (OR, 1.24; 95% CI, 1.04-1.48; P = .017). Stratification analysis showed that rs9383938 and rs2228480 raised the breast cancer susceptibility in individuals aged younger than 52 years old. Rs1801132 of ESR1 was significantly associated with the status of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 in the allele model and genetic models (P < .05).ConclusionsThis study demonstrated that ESR1 polymorphisms might influence breast cancer susceptibility in the Chinese Han population. Further mechanism studies are needed to confirm the contribution of ESR1.     

Interleukin-4 and -8 Gene Polymorphisms and Risk of Gastric Cancer in a Population in Southwestern China

Background: Gastric carcinogenesis is a complicated process that involves environmental and genetic factorslike interleukin-4 (IL-4) and IL-8. Single nucleotide polymorphisms in their genes are associated with changedlevels of gene expression. Here, we investigated the association between IL4-590 C>T and IL8-251T>A andgastric cancer (GC) risk in Sichuan of Southwestern China. Materials and Methods: We surveyed the researchsubjects using a self-designed questionnaire with questions on demographic factors and putative risk factors.Approximately 2-5ml of whole blood was collected after field survey to analyze IL4-590 C>T and IL8-251T>Agenotypes using MALDI-TOF MS. Results: Our study recruited 308 pairs of GC patients and controls, including224 (72.7%) men and 84 (27.3%) women in each group. There were 99 cardia and 176 noncardia GC patients inthe case group. The case and control groups had an average age of 57.7±10.6 (mean±SD) and 57.6±11.1 years.GC patients reported a significantly greater proportion of family history of cancer (29.9% vs 10.7%, p<0.01)and drinking (54.6% vs 43.2%, p<0.01) than did controls. Variant genotypes of IL-4-590 C>T and IL-8-251 T>Awere not associated with overall GC risk (adjusted OR, 0.89; 95%CI, 0.61-1.28 for CT or CC vs TT; adjustedOR, 1.14; 95%CI, 0.86-1.79 for TA or AA vs TT). Stratification analysis of two SNPs for risk by subsites onlyfound that variant IL-8-251 TA or AA genotype was associated with increased noncardia GC risk (adjustedOR, 2.58; 95%CI, 1.19-5.57). We did not observe interactions between the IL-8-251 T>A genotype and smoking(adjusted OR, 0.38; 95%CI, 0.08-1.79) or drinking (adjusted OR, 0.36; 95%CI, 0.08-1.65) for risk of noncardiaGC. Conclusions: Our data indicate no association between the two SNPs of IL-4-590 and IL-8-251 with overallGC risk, while the IL-8-251 TA or AA genotype conferred risk of cardia GC. Our findings contribute to theevidence body for risk of SNPs associated with the development of gastric cancer in this region.     

Updated Meta-analysis of the Association Between CYP2E1 RsaI/PstI Polymorphisms and Lung Cancer Risk in Chinese Population

Background: A number of studies have reported relationships of CYP2E1 RsaI/PstI polymorphisms with susceptibility to lung cancer in Chinese population. However, the epidemiologic results have been conflictive rather than conclusive. The purpose of this study was to address the associations of CYP2E1 RsaI/PstI polymorphisms with lung cancer risk in Chinese population comprehensively. Materials and Methods: Systematic searches were conducted in the PubMed, Science Direct, Elsevier, CNKI and Chinese Biomedical Literature Databases. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to estimate the strength of association. Results: Overall, we observed a decreased lung cancer risk among subjects carrying CYP2E1 RsaI/PstI c1/c2 and c1/c2+c2/c2 genotypes (OR=0.76, 95%CI: 0.64-0.90 and OR=0.78, 95%CI: 0.66-0.93, respectively), as compared with subjects carrying the c1/c1 genotype. In subgroup analysis, we observed a decreased lung cancer risk among c1/c2 carriers in hospital-based studies (OR=0.81, 95%CI: 0.68-0.98) and among carriers with c1/c2 and c1/c2+c2/c2 genotypes in population-based studies(OR=0.57, 95%CI: 0.42-0.79 and OR=0.58, 95%CI: 0.43-0.79, respectively), as compared with subjects carrying the c1/c1 genotype. Limiting the analysis to studies with controls in Hardy-Weinberg equilibrium (HWE), we similarly observed a decreased lung cancer risk among c1/c2 and c1/c2+c2/c2 carriers (OR=0.73, 95%CI: 0.60-0.88 and OR=0.73, 95%CI: 0.60-0.88, respectively), as compared with c1/c1. Conclusions: Our results suggested that CYP2E1 RsaI/PstI c1/c2 and c1/c2+c2/c2 variants might be a protective factor for developing lung cancer in Chinese population. Further well-designed studies with larger sample size are required to verify our findings.     

Association of Two CD44 Polymorphisms with Clinical Outcomes of Gastric Cancer Patients

Objective: CD44 is an important cell adhesion molecule that plays a key role in growth, invasion, proliferation andmetastasis of cancer cells. CD44 protein over-expression is associated with a poor prognosis of gastric cancer (GC) andprevious studies have shown that CD44 gene polymorphisms could affect survival and recurrence. In this study, wetested the hypothesis that polymorphisms impacting on the CD44 signaling pathway may predict clinical outcomes inpatients with GC. Materials and Methods: DNA was extracted from blood of 150 healthy individuals and formalin-fixedparaffin-embedded (FFPE) tumor tissue of 150 patients. The two polymorphisms rs187116 and rs7116432 werestudied by RFLP-PCR and sequencing techniques. Results: There was a strong significant correlation between singlenucleotide polymorphisms (SNPs) in the CD44 gene, tumor recurrence, and overall survival (p <0.0001). The existenceof a significant relationship between tumor recurrence and overall survival was proved in this study, with at least oneallele G for the polymorphism rs187116 and at least one allele A for polymorphism rs7116432. Conclusion: These resultsprovide evidence of a relationship between CD44 gene polymorphisms and clinical outcomes in our GC patients.This result could help identify individuals with GC who have a high risk of tumor recurrence.     

Mll3 Genetic Variants Affect Risk of Gastric Cancer in the Chinese Han Population

It is reported that the expression level of MLL3 in gastric cancer tissue highly correlates with tumorprogression. However, whether MLL3 genetic variants are associated with the risk of gastric cancer remainsunclear. In this study, we conducted a genotyping analysis for MLL3 in 314 cases of gastric cancer and 322controls from the Chinese Han population. 4 SNPs (rs6943984, rs4725443, rs3800836, rs6464211) were selectedfor the present analysis. We found 2 SNPs (rs6943984, rs4725443) of MLL3 gene were significantly associatedwith the risk of gastric cancer : the rs6943984 with the minor allele A and rs4725443 with the minor allele Crevealed strong associations with increased gastric cancer risk [P < 0.001, OR = 1.97, 95% CI = 1.48~2.64 andP <0.001, OR = 2.23, 95% CI = 1.54~3.24]. Haplotype analysis of the four SNPs showed that haplotype A-T-A-C,G-T-G-C, and G-C-A-C increased the risk of gastric cancer (P <0.001, P=0.18, and P<0.001, respectively), whilehaplotype G-T–A-C significantly reduced the risk of gastric cancer (P <0.001). We concluded that MLL3 variantsare significantly associated with gastric cancer risk. Our results for the first time provided new insight intosusceptibility factors of MLL3 gene variants in carcinogenesis of gastric cancer of the Chinese Han population.     

Polymorphisms in Inflammation-related Genes and Risk of Gastric Cancer (Finland)

Helicobacter pylori infection is an important risk factor for gastric cancer, but <3% of carriers of this organism will ever develop gastric cancer. Since inflammation plays a significant role in gastric carcinogenesis, it has been suggested that polymorphisms in genes involved in inflammatory response may partly explain why only a subgroup of patients infected with H. pylori develop gastric cancer. We compared relative frequencies of 17 single nucleotide polymorphisms (SNPs) in eight inflammation-related genes between 112 gastric cancer patients and 208 controls. Cases and controls were selected from a large cohort of Finnish male smokers who were recruited into the Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) Study. The studied SNPs were IL-1A (−889 C/T), IL-1B (−511 C/T and −31 T/C), IL-6 (−174 G/C and −597 G/A), IL-8 (−251 T/A, +396 T/G and +781 C/T), IL-8RA (Ex2 +860 G/C), IL-8RB (Exon 3 +1235 T/C, Exon 3 +811 C/T, and Exon 3 +1010 G/A), IL-10 (−819 C/T, −592 C/A, −1082 A/G), and TNF A (−308 G/A, −238 G/A). We found no statistically significant association between any of these SNPs, or the number of pro-inflammatory polymorphisms, with risk of gastric cancer. Our results do not support the hypothesis that polymorphisms in genes involved in the inflammatory response confer differences in gastric cancer risk among different individuals.     

硒蛋白S基因G-105A、G-254A位点多态性与湖南汉族人群胃癌遗传易感性的相关研究

目的 探讨湖南汉族人群硒蛋白S(SelS)基因G-105A、G-254A位点多态性与胃癌遗传易感性的相关研究.方法 采用聚合酶链反应—限制性片断长度多态性(PCR-RFLP)方法,检测113例湖南汉族胃癌患者及111例健康对照者基因型和等位基因频率,分析胃癌患者与健康对照者G-105A、G-254A位点等位基因频率及基因型频率的差异.结果 G-105A位点GG、GA和AA基因型在胃癌组和健康对照组间分别为100.0％、0.0％、0.0％和100.0％、0.0％、0.0％;G、A等位基因频率在胃癌组和健康对照组分别为100.0％、0.0％和100.0％、0.0％,胃癌组和健康对照组基因型和等位基因频率分布无差异.G-254A位点CC、CT和TT基因型在胃癌和健康对照组间分别为50.0％、37.2％、12.8％和65.8％、28.8％、5.4％;C、T等位基因频率在胃癌组和健康对照组分别为69.0％、31.0％和80.2％、19.8％.胃癌组和健康对照组基因型和等位基因频率分布差异有统计学意义(P＜0.05).湖南汉族人群中携带T等位基因的个体患胃癌的风险是CC基因型个体的1.89倍(OR=1.89,95％CI:1.10～ 3.23).结论 SelSG-254A位点多态性与胃癌的发病具有相关性,T等位基因可能是湖南汉族人群胃癌发病的危险因素之一;湖南汉族人群可能无G-105A这一位点的多态性分布.     

ERCC1基因多态性与胃癌发生发展的关系

  目的  本研究拟探讨切除修复互补交叉基因1(ERCC1)3个单核苷多态性(SNPs)与胃癌发生发展的关系。  方法  选取2007年1月至2009年12月福建地区组织学确诊的452例胃癌患者和469例健康体检人群, 利用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)方法进行rs11615 T > C、rs2298881 C > A和rs3212930 T > C、3个位点多态性检测, 以评估ERCC1不同基因型与胃癌发病风险和病理特征的关系。  结果  rs11615 T > C位点携带C等位基因的个体患胃癌的风险较野生纯合基因型降低一半(OR=0.49;95%CI: 0.52~0.47;P=0.01), 但是罹患弥漫型胃癌的风险上升1.68倍, 预后更差(OR=1.68;95%CI: 0.76~0.61;P=0.048)。单体型分析显示, 基于这3个位点的单体型C-C-C降低了体患胃癌的风险(OR=0.729;95%CI: 0.531~1.001;P=0.0499), 而单体型T-C-T则增加了胃癌患病的风险(OR=1.321;95%CI: 1.063~1.641;P=0.0118)。  结论  ERCC1基因rs11615 T > C位点多态性与胃癌发生发展密切相关, 携带该基因2种不同单体型的个体在胃癌患病风险上存在差异。