hOGG1基因多态与结直肠癌和肝细胞癌遗传易感性

目的探讨hOGG1基因第326密码子多态（Ser326Cys）与中国人群结直肠癌（CRC）和肝细胞癌（HCC）遗传易感性的关系。方法采用TaqMan方法检测345例CRC与670例对照以及175例HCC与119例对照的hOGG1Ser326Cys基因型分布及差异。结果总体上，hOGG1 Ser326Cys基因型分布在HCC-对照、CRC-对照以及不吸烟的CRC-对照人群间均无显著性差异（P〉O．05）。但在吸烟人群中，326Cys是CRC发生的危险因素（OR=1．58，95％CI=1．14～2．19，P=0．006）；与Ser／Ser基因型及Ser等位基因携带者（Ser／Ser、Ser／Cys基因型）相比，Cys／Cys基因型的CRC风险显著增加至2．40倍（95％CI=1．20～4．78，P=0．013）及2．02倍（95％CI=1．21-3．37，P=0．008）。结论hOGG1Ser326Cys多态可能与HCC发病风险无关，但Cys／Cys基因型增加中国吸烟人群的CRC发病风险。     

豫北地区人群hOGG1基因型与食管癌易感性的相关研究

目的研究食管癌高发区豫北地区人群8-羟基鸟嘌呤糖苷酶1（hOGG1）基因Ser326Cys多态性及其与食管癌易感性的关系,以便有效地开展该地区食管癌的检测和预防工作。方法运用PCR-限制片段多态（RFLP）技术,分析了228例正常对照和235例食管癌患者hOGG1基因第326位点Ser/Cys多态性。并比较不同基因型与食管癌发病风险的关系。结果食管癌组和对照组人群中的Cys等位基因频率分别占42.7%和38.6%,无显著性差异,而食管癌组的Cys/Cys基因型频率为23.0%,明显高于对照组的12.3%（2χ=11.67,P=0.003）;与携带Ser/Ser或Ser/Cys基因型者比较,携带Cys/Cys基因型个体患食管癌的风险增加,OR为2.13（95%CI 1.29~3.51）。结论食管癌的发生与hOGG1基因多态性密切相关,检测hOGG1基因型有助于食管癌的预警和预防。     

hOGG1基因型和血清8-OHdG水平与急性心肌梗死关系的病例对照研究

目的探讨中国河南新乡地区人群8-羟基鸟嘌呤糖苷酶(hOGG1)基因Ser326Cys单核苷酸多态性和血8-羟基脱氧鸟嘌呤(8-OHdG)水平与急性心肌梗死(AMI)的关系。方法用病例-对照研究设计,选取AMI病例(病例组)和与之年龄、性别匹配且冠状动脉造影示冠状动脉正常的对照(对照组)各300例,按1∶1配对,运用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术检测hOGG1基因Ser326Cys单核苷酸多态性,同时检测血8-OHdG水平及相关血脂、血糖等生化指标。结果两组hOGG1基因Ser326Cys等位基因的分布无差异(P=0.16);病例组Cys/Cys基因型频率明显高于对照组,Ser/Cys基因型频率明显低于对照组(P=0.001);与携带Ser/Ser+Ser/Cys基因型者比较,携带Cys/Cys基因型的个体患AMI的风险增加(OR=1.99,95%CI:1.20～2.69);病例组血8-OHdG水平明显高于对照组(P<0.05),携带Cys/Cys基因型的病例组患者血8-OHdG水平明显增高(P<0.05)。结论 hOGG1基因型和血清8-OHdG水平与AMI均存在相关性。携带Cys/Cys基因型的个体患AMI的风险增加,AMI患者的氧化应激水平增高,基因型为Cys/Cys的AMI患者氧化应激水平增高明显。     

DNA切除修复基因XPD在肝癌中遗传易感性的荟萃分析

目的 探讨DNA切除修复基因XPD基因多态性在中国人群原发性肝癌中的遗传易感性. 方法 检索中外数据库,获得有关XPD基因多态性与肝癌发病风险的病例对照研究资料进行Meta分析,得到合并的优势比(OR)和95％可信区间(95％CI). 结果 共纳入XPD基因多态位点相关文献6篇,累计病例3424例,对照3636例;在XPD基因多态位点751和312位点等位基因的OR (95％CI)分别为1.25 (0.70～ 2.24)和0.85 (0.58～ 1.25);在XPD基因多态位点751,与野生基因型Lys/Lys相比,(Lys/Gln+Gln/Gln)合并的OR(95％CI)为1.31(0.71 ～ 2.42);在XPD基因多态位点312位点,与野生基因型Asp/Asp相比,(Asp/Asn+Asn/Asn)合并的OR值(95％CI)为1.19 (0.73～ 1.95). 结论 XPD多态性遗传位点751和312不是中国人群原发性肝癌发病的风险因素.     

肿瘤坏死因子α-308基因多态性与慢性阻塞性肺疾病易感性的荟萃分析

目的运用荟萃分析方法综合评价肿瘤坏死因子α基因启动子308位（TNF-α-308）G／A基因型与慢性阻塞性肺疾病（COPD）的相关性。方法检索Medline和中国生物医学光盘数据库，获取TNF-α-308基因多态性与COPD易感性的病例一对照研究，使用统一的表格提取资料，应用RevMan 4．2软件进行统计学处理。结果检索的17篇文献中有18个病例-对照研究，共有1606例COPD患者（亚洲人666例，白种人940例）和2551例对照（亚洲人898例，白种人1653例）被纳入荟萃分析。亚洲人群等位基因TNF2与COPD密切相关（OR=2．62，95％CI为2．00～3．43），基因型TNF1／2及基因型TNF1／2合并TNF2／2者的COPD易感性高于基因型TNF1／1者（OR=2．44，95％CI为1．79-3．33及OR=2．78，95％CI为2．06～3．75），校正吸烟前后的敏感性结果相似。白种人等位基因TNF2与COPD易感性无相关性（OR=0．97，95％CI为0．84～1．14），基因型TNF1／2及基因型TNF1／2合并TNF2／2者的COPD易感性与基因型TNF1／1者相似（OR=0．96，95％CI为0．79～1．16及OR=1．03，95％CI为0．86～1．25），校正吸烟前后的敏感性结果相似。结论在亚洲人群中TNF2等位基因是COPD的危险因素，在白种人群中TNF-α-308的G／A基因多态性与COPD易感性无关。     

白细胞介素-1β基因多态性与慢性阻塞性肺疾病易感性的系统评价

目的通过Meta分析探讨IL-1β基因多态性与慢性阻塞性肺疾病（COPD）易感性的关系。方法计算机及手工检索1980年1月至2013年1月发表的关于IL-1β基因多态性和COPD易感性关系的文献资料。根据纳入及排除标准筛选文献并提取数据。Meta分析采用RevMan5．0．25和Stata11．0软件进行。合并效应采用比值比（OR）和95％可信区间（95％CI）进行评价。发表偏倚通过漏斗图直观判断和Egger回归法、Begg秩相关法定量检测。敏感性分析为剔除不符合H—W平衡的文献后重新进行Meta分析。5篇文献（6项研究）被纳入Meta分析,共有749例COPD患者及923例对照纳入研究。结果Meta分析结果表明,IL-1β-511C／T基因多态性与COPD易感性无关联（TvsC：OR=0．97,95％CI=0．76～1．24：TTvsCC：OR：0．93,95％CI=0．55—1．59;CT＋TYvsCC：OR=1．25,95％CI=0．98～1．58;TTvsCT＋CC：OR=0．82,95％CI：0．64—1．05）,IL-1β-31T／C基因多态性与COPD易感性亦无明显联系（CUST：OR=0．99,95％CI=0．86～1．15;CCvsTF：OR=0．99,95％CI=0．72～1．35;CT＋TTvsCC：OR=1．21．95％CI=0．94—1．55;TTvsCT＋CC：OR=0．80,95％CI=0．63～1．03）。结论IL-1β-511C／T、-31T／C基因多态性与COPD易感性无关。     

人类XRCC1-399单核苷酸多态性与原发性肝细胞癌的相关研究

目的以病例-对照研究方式探讨人类DNA修复基因XRCC1-399单核苷酸多态性(SNP)与HBV感染者的原发性肝细胞癌(HCC)的发生关系。方法72例HCC患者经病理检查证实,根据地缘、性别、年龄,按1：1～2比例匹配137例非HCC对照者。采用聚合酶链反应一限制片段长度多态性(PCR-RFLP)技术检测受试者XRCC1-399位SNP。结果(1)XRCC1-399SNP和年龄均与HCC的发生无关,但在XRCC1-399Arg／Arg受试者中,HCC的发生与年龄呈负相关(P=0．028);(2)HBV感染是HCC发生的肯定因素(P=0．007);在XRCC1-399Gln／Gln或Arg／Gln受试者中,伴HBV感染者HCC发生率(25．7％)远高于不伴HBV感染者(5．3％,P=0．047);(3)XRCC1-399Arg／Arg受试者HBV感染率与Gln/Gln或Arg／Gln受试者近似(36．6％对38．0％,P=0．052)。结论(1)XRCC1-399Arg／Arg可能具有潜在抵抗HCC发生的作用;(2)XRCC1-399Gln／Gln或Arg／Gln联合HBV感染是HCC发生的高危因素。     

基质金属蛋白酶-9基因-1562C〉T多态性与冠心病易感性的Meta分析

目的探讨基质金属蛋白酶-9（matrixmetallopmteinas;-9,MMP-9）基因-1562C〉T多态性与冠状动脉粥样硬化性心脏病（coronaryarterydisease,CAD）易感性的相关性。方法检索中、英文数据库,以得到MMP-9基因-1562C〉T多态性与CAD易感性的病例对照研究,应用Meta分析方法对纳人研究结果进行定量合并,采用REVMAN5．0软件进行统计分析。结果共纳入文献18篇,累计病例组9878例,对照组5175例,异质性检验P〈O．05,R=69％,合并比值比（oddsratio,OR）=1．34[95％置信区间（confidenceinterval,CI）：1．13-1．59,P〈O．001]。其中亚洲人群病例2461例,对照组2014例;高加索人群病例7417例,对照组3161例。在亚组分析中,亚洲人群、高加索人群OR值分别为1．61（95％CI：1．20-2．15,P〈O．01）、1．15（95％CI：0．94-1．40,P〉0．05）。结论MMP-9基因-1562C〉T多态性可能与亚洲人CAD的易感性相关,而与高加索人群CAD的易感性无关联。     

代谢酶基因GSTM1和广西人群胃癌遗传易感性的关系

目的探讨代谢酶基因GSTM1多态性与广西地区人群胃癌遗传易感性之间的相关性。方法采用PCR技术检测广西地区121例胃癌患者和138例健康人的GSTM1基因多态性的分布频率,分析其与广西地区胃癌遗传易感性之间的相关性以及与吸烟、饮酒在胃癌易感性中的交互作用。结果胃癌组GSTM1（-）基因型频率（54．5％）显著高于对照组（39．1％）（X^2=6．140,P=0．013）。携带GSTM1（-）基因型的个体患胃癌的风险是携带GSTM1（＋）基因型个体的2．13倍（95％CI=1．079-1．831,P=0．013）。在吸烟者中,携带GSTM1（-）基因型的个体较携带GSTM1（＋）基因型的个体患胃癌的风险明显增加（OR=3．247,95％CI=1．067—2．328,P=0．015）。其增加程度远远高于总的胃癌风险（OR=2．129）。在饮酒者中,携带GSTM1（-）基因型的个体较携带GSTM1（＋）基因型的个体患胃癌的风险亦明显增加（OR=3．117,95％CI=1．020—2．863,P=0．033）。其增加程度远远高于总的胃癌风险（OR=2．129）。结论GSTM1（-）基因型显著增加广西地区人群患胃癌的风险,且显著增加吸烟、饮酒者患胃癌的风险。     

亚甲基四氢叶酸还原酶基因C677T多态与肝细胞癌遗传易感性的相关性研究

目的探讨亚甲基四氢叶酸还原酶（MTHFR）基因C677T多态与中国人肝细胞癌（Hcc）遗传易感性的关系。方法采用聚合酶链反应一限制性片段长度多态性（PCR—RFLP）方法，检测508例Hcc与543例对照的MTHFR C677T基因型分布及其差异。结果HCc和对照两组人群的MTHFR C677T基因型分布差异无统计学意义。但与C等位基因携带者（C／C和C／T基因型）相比，T／T基因型携带者患HCC的风险增加0．66倍（95％可信区间为1．08～2．54，P〈0．05）。性别因素分层分析结果显示：T／T基因型女性携带者其HCC的风险是C等位基因女性携带者的2．64倍（95％可信区间为1．19～5．88，P〈0．05）；而男性T／T基因型与C等位基因携带者其HCC的风险差异无统计学意义。结论MTHFR基因C677T多态可能是中国女性患HCC的一个遗传易感因素，而男性HCC发病风险与该多态无明显关系。     

hOGG1 Ser326Cys polymorphism modifies the significance of the environmental risk factor for colon cancer

AIM: To determine the association of hOGG1 (8-oxoguanine glycosylase I, OGG1) polymorphism of Ser326Cys substitution with colon cancer risk and possible interaction with known environmental risk factors. METHODS: A case-control study with 125 colon cancer cases and 247 controls was conducted. RESULTS: There was no major difference in Ser326Cys genotype distribution between cases and controls. The meat intake tended to increase the odds ratio for colon cancer with an OR of 1.72 (95 % confidence interval; CI=1.12-2.76). Such tendency was more prominent in Cys/Cys carriers (OR=4.31, 95 % CI=1.64-11.48), but meat intake was not a significant risk factor for colon cancer in Ser/Ser or Ser/Cys carriers. The OR for colon cancer was elevated with marginal significance in smokers who were Cys/Cys carriers (OR=2.75, 95 % CI=1.07-7.53) but not in Ser/Ser or Ser/Cys carriers. CONCLUSION: These results suggest that the hOGG1 Ser326Cys polymorphism is probably not a major contributor to individual colon cancer susceptibility overall, but the Cys/Cys genotype may alter the impact of some environmental factors on colon cancer development.     

Meta-analysis of the association between hOGG1 Ser326Cys polymorphism and risk of colorectal cancer based on case–control studies

Purpose

Oxidative DNA damage caused by reactive oxygen species plays an important role in cancer development. The association between colorectal cancer and hOGG1 Ser326Cys polymorphisms has been analyzed in several published studies, but mixed findings have been reported. The main purpose of this study was to integrate previous results and explore whether the polymorphism of hOGG1 is associated with susceptibility to colorectal cancer.

Methods

PubMed, Embase, Google Scholar, and Cbmdisc were searched for studies on the relationship of hOGG1 SNPs and the incidence of colorectal cancer (CRC). Eligible articles were included for data extraction. The main outcome was the frequency of hOGG1 Ser326Cys polymorphisms between cases and controls. Comparison of the distribution of SNP was mainly performed using Review Manager 5.0.

Results

A total of 4,174 cases and 6,196 controls from 12 studies were included for this meta-analysis. Overall, stratified by ethnicity or population source, no significant associations between the hOGG1 Ser326Cys polymorphism and colorectal cancer risk were found for Cys/Cys allele (OR?=?1.146; 95?% CI: 0.978–1.342, P?=?0.091), Cys/Cys?+?Cys/Ser versus Ser/Ser (OR?=?1.045; 95?% CI: 0.975–1.121, P?=?0.213) Cys/Cys Versus Ser/Ser (OR?=?1.243; 95?% CI: 0.979–1.578, P?=?0.074) and Cys/Cys versus Cys/Ser?+?Ser/Ser (OR?=?1.198; 95?% CI: 0.959–1.496, P?=?0.111) in a recessive model and (OR?=?1.494; 95?% CI: 1.023–2.181, P?=?0.038) in a homozygote contrast. However, if apart from sensitivity analysis, there was some evidence to indicate that significantly increased risks were found among European plus American subjects, who are mostly Caucasian (OR?=?1.444; 95?% CI: 1.017–2.05 Cys/Cys vs. Ser/Cys?+?Ser/Ser; P?=?0.04). In the subgroup analyses, we also did not found any association between hOGG1 Ser326Cys polymorphism and certain populations and smokers.

Conclusions

This meta-analysis suggests that there is no robust association between hOGG1 Ser326Cys polymorphism and colorectal cancer. Because of the limitation of meta-analysis, this finding demands further investigation.     

Association between polymorphisms of the APOBEC3G gene and chronic hepatitis B viral infection and hepatitis B virusrelated hepatocellular carcinoma

AIM to determine the relationship between five A3 G gene single nucleotide polymorphisms and the incidence of hepatitis B virus(HBV) infection and hepatocellular carcinoma(HCC). METHODS this association study was designed as a retrospective study, including 657 patients with chronic HBV infection(CHB) and 299 healthy controls. All subjects were ethnic Han Chinese. Chronic HBV-infected patients recruited between 2012 and 2015 at the First Hospital of Jilin University(Changchun) were further classified into HBV-related HCC patients(n = 287) and non-HCC patients(n = 370). Frequency matching by age and sex was performed for each group. Human genomic DNAwas extracted from whole blood. Gene polymorphisms were identified using a mass spectroscopic method.RESULTS there were no significant differences between the genotype and allele frequencies of the rs7291971, rs5757465 and rs5757463 A3 G gene polymorphisms, and risk of CHB and HBV-related HCC. the AG genotype and G allele for rs8177832 were significantly related to a decreased risk of CHB(OR = 0.67, 95%CI: 0.47-0.96; OR = 0.69, 95%CI: 0.50-0.95, respectively) and HCC(OR = 0.53, 95%CI: 0.34-0.84; OR = 0.58, 95%CI: 0.39-0.87, respectively). A significant relationship was found between rs2011861 computed tomography, tt genotypes and increased risk of HCC(OR = 1.69, 95%CI: 1.02-2.80; OR = 1.82, 95%CI: 1.08-3.06, respectively). Haplotype analyses showed three protective and four risk haplotypes for HCC. Also, one protective haplotype was found against CHB.CONCLUSION this study indicates that the A3 G rs8177832 polymorphism is associated with a decreased risk of CHB infection and HCC, while the rs2011861 polymorphism is associated with an increased risk of HCC.     

Meta-analysis on the association of TIRAP S180L variant and tuberculosis susceptibility

The missense variant S180L in TIRAP (Toll-interleukin-1 receptor domain-containing adaptor protein) gene is implicated in attenuating TLRs signal transaction and may affect individual response to Mycobacterium tuberculosis infection. Several studies investigated the association between TIRAP S180L and risk of tuberculosis (TB), but the results were controversial. In this study, we quantitatively synthesized nine studies relevant to the association between TIRAP S180L polymorphism and TB risk with total 6584 TB cases and 7294 controls using meta-analysis. We found that the variant allele Leu180 and heterozygous genotype Ser/Leu were not significantly associated with risk of TB (allelic OR = 0.99, 95%CI: 0.88-1.11; Ser/Leu vs Ser/Ser: OR = 0.99, 95%CI: 0.87-1.13) with heterogeneity P values > 0.05. In subgroup analysis, none of the significant associations were observed for S180L and TB risk in Africans (allelic OR = 0.58, 95%CI: 0.29-1.61; heterozygous OR = 0.65, 95%CI: 0.32-1.32) or Asians (allelic OR = 1.30, 95%CI: 0.97-1.74; heterozygous OR = 1.17, 95%CI: 0.84-1.65) or risk of pulmonary tuberculosis (PTB) (allelic OR = 0.92, 95%CI: 0.69-1.22; heterozygous OR = 0.98, 95%CI: 0.86-1.12). This meta-analysis indicates that TIRAP S180L polymorphism is unlikely to substantially contribute to TB susceptibility.     

Interleukin-1β gene polymorphism associated with hepatocellular carcinoma in hepatitis B virus infection

AIM: To examine the effect of interleukin-1-beta (IL-1beta) promoter region C-511T and IL-1 receptor antagonist (IL-1RN) polymorphism among the patients with chronic hepatitis B virus (HBV) infection (HCC and non-HCC). METHODS: Genomic DNA from 136 Thai patients with chronic HBV infection (HCC=46 and non-HCC=90) and 152 healthy individuals was genotyped for IL-1beta gene polymorphism (-511) using polymerase chain reaction with sequence specific primers (PCR-SSP). The variable number of tandem repeats (VNTR) of IL-1RN gene was assessed by a PCR-based assay. The association between these genes and status of the disease was evaluated by chi2 test. RESULTS: IL-1B-511 genotype C/C was found to be significantly different in patients with HCC when compared with healthy individuals (P=0.036, OR=2.29, 95%CI=1.05-4.97) and patients without HCC (P=0.036, OR=2.52, 95%CI=1.05-6.04). Analysis of allele frequencies of IL-1B-511 showed that IL-1B-511 C allele was also significantly increased in patients with HCC, compared to that in healthy control (P=0.033, OR=1.72, 95%CI=1.04-2.84). However, no significant association in IL-1RN gene was found between the two groups. CONCLUSION: IL-1B-511C allele, which may be associated with high IL-1B production in the liver, is a genetic marker for the development of HCC in chronic hepatitis B patients in Thai population.     

Interleukin-1β gene polymorphism associated with hepatocellular carcinoma in hepatitis B virus infection

AIM: To examine the effect of interleukin-1-beta (IL-1β)promoter region C-511T and IL-1 receptor antagonist (IL-1RN) polymorphism among the patients with chronic hepatitis B virus (HBV) infection (HCC and non-HCC).METHODS: Genomic DNA from 136 Thai patients with chronic HBV infection (HCC=46 and non-HCC=90) and 152 healthy individuals was genotyped for IL-1β gene polymorphism (-511) using polymerase chain reaction with sequence specific primers (PCR-SSP). The variable number of tandem repeats (VNTR) of IL-1RN gene was assessed by a PCR-based assay. The association between these genes and status of the disease was evaluated by X2 test.RESULTS: IL-1B-511 genotype C/C was found to be significantly different in patients with HCC when compared with healthy individuals (P = 0.036, OR = 2.29,95%CI = 1.05-4.97) and patients without HCC (P=0.036,OR=2.52, 95%CI=1.05-6.04). Analysis of allele frequencies of IL-1B-511 showed that IL-1B-511 C allele was also significantly increased in patients with HCC, compared to that in healthy control (P=0.033,OR= 1.72, 95%CI=1.04-2.84). However, no significant association in IL-1RN gene was found between the two groups.CONCLUSION: IL-1B-511C allele, which may be associated with high IL-1B production in the liver, is a genetic marker for the development of HCC in chronic hepatitis B patients in Thai population.     

Association between polymorphisms of APE1 and OGG1 and risk of colorectal cancer in Taiwan

AIM: To evaluate the effects of OGG1(Ser326Cys, 11657A/G, and Arg154His) and APE1(Asp148Glu, and T-656G) polymorphisms on colorectal cancer(CRC) risk.METHODS: We enrolled 727 cases newly diagnosed with colorectal adenocarcinoma and 736 age- and sex-matched healthy controls from a medical center in Taiwan. Genomic DNA isolated from the buffy coat was used for genotyping through polymerase chain reaction. Unconditional logistic regressions were used for calculating ORs and 95%CIs to determine the association between the genetic polymorphisms and CRC risk. Haplotype frequencies were estimated using PHASE software. Moreover, stratification analyses onthe basis of sex, age at diagnosis, and tumor subsite and stage were performed.RESULTS: The CRC risk was higher in patients with the OGG1 326Ser/Cys + Cys/Cys genotype(OR = 1.38, 95%CI: 1.03-1.85, P = 0.030), particularly high in patients with stage Ⅲ + Ⅳ cancer(OR = 1.48, 95%CI: 1.03-2.13) compared with patients with the Ser/Ser genotype. In addition, OGG1 11657 G allele carriers had a 41% reduced CRC risk among stage 0-Ⅱ patients(OR = 0.59, 95%CI: 0.35-0.98). The CRC risk was significantly higher among females with the APE1 Glu allele(OR = 1.41, 95%CI: 1.02-1.96). The APE1 148Glu/-656 G haplotype was also associated with a significant CRC risk in females(OR = 1.36, 95%CI: 1.03-1.78).CONCLUSION: OGG1 and APE1 polymorphisms are associated with stage- and sex-specific risk of CRC in the Taiwanese population.     

The hOGG1 gene 5��-UTR variant c.?53G>C contributes to the risk of gastric cancer but not colorectal cancer in the Chinese population

Purpose

The incidence and mortality of gastric and colorectal cancers are among the highest malignant tumors in China. The aim of this study is to investigate whether variations of the human oxoguanine glycosylase 1 (hOGG1) gene are related to the risk of gastric and colorectal cancers in the Chinese population.

Methods

There were 622 gastric cancer patients, 383 colorectal cancer patients, and 932 healthy controls recruited to screen for variations in the 5??untranslated region (UTR) and to screen for the missense mutation (p.Ser326Cys) in exon7 of the hOGG1 gene using high-resolution melting curve analysis (HRM) and subsequent sequencing. The promoter luciferase activity assay was applied to assess the potential influence of the detected variants on gene function.

Results

Four variations, c.?53G>C, c.?45G>A, c.?23A>G, and c.?18G>T, were detected in the 5??-UTR of the hOGG1 gene. The case?Ccontrol study indicated that the c.?53G/C heterozygous genotype was markedly associated with gastric cancer (P?=?0.008, OR?=?2.304, 95% CI, 1.258?C4.221), but not with colorectal cancer. The clinicopathological association analysis showed that the variant of c.?53G>C in the hOGG1 gene was prevalent in low-differentiation patients (P?=?0.012, OR?=?3.174, 95% CI: 1.352?C7.448). This variant decreased the gene promoter activity by approximately 17.8% (P?=?0.041) and exhibited a synergistic effect with the missense mutation p.Ser326Cys of hOGG1 by enhancing susceptibility to gastric cancers.

Conclusions

The variant c.?53G>C in the 5??-UTR of the hOGG1 gene is a risk factor for gastric cancer and is potentially associated with low-differentiation degree, but not with colorectal cancer, in the Chinese population.     

HOGG1 polymorphism in atrophic gastritis and gastric cancer after Helicobacter pylori eradication

AIM:To investigate the association between Ser326Cys human oxoguanine glycosylase 1(hOGG1) polymorphism and atrophic gastritis and gastric cancer after Helicobacter pylori(H.pylori) eradication.METHODS:A total of 488 subjects(73 patients with gastric cancer,160 with atrophic gastritis after H.pylori eradication and 255 controls) were prospectively collected.Polymerase chain reaction-restriction fragment length polymorphism analysis was performed to distinguish hOGG1 Ser326Cys polymorphism.Statistical analys...