ERCC1、XPD、XPC核苷酸切除修复基因遗传多态性与燃煤砷中毒的关系

Q3 Medicine

中华地方病学杂志 Pub Date : 2011-11-20 DOI:10.3760/CMA.J.ISSN.1000-4955.2011.06.011

Shaofeng Wei, A. Zhang, Bing Liang, Xiao-xin Huang

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Zhang, Bing Liang, Xiao-xin Huang","doi":"10.3760/CMA.J.ISSN.1000-4955.2011.06.011","DOIUrl":null,"url":null,"abstract":"Objective To investigate the relationship between genetic polymorphisms in excision repair cross-complementing 1 (ERCC 1 ),xeroderma pigmentosum group D (XPD),xeroderma pigmentosum group C (XPC) and the risk of arsenism caused by coal-burning.Methods Two hundred and twenty-nine patients with arsenism in the endemic area of Jiaole village Xingren county Guizhou province were selected into experimental group.One hundred and ninety-eight inhabitants who had similar living habits but did no burning coal with high arsenic in Dagnoduo village were selected into control group.Two milliliters vein blood samples were taken and analyzed with polymerase chain reaction-restriction frgment length polymorphism technique (PCR-RFLP) to measure the gene polymorphisms of ERCC1 C8092A,XPD Lys751Gln,XPD Asp312Asn,XPD Arg156Arg,and XPC P(AT +/-).Relationship between genotype and the risk of arsenism was also analyzed.Results The frequency of ERCC1 8092CA/AA geno-type in case group [ CA:29.78％ (67/225),AA:10.67％ (24/225) ] was significantly higher than that of control group[CA:23.08％(45/195),AA:5.13％(10/195),x2 =8.116,P ＜ 0.05].The frequency difference of other gene polymorphisms between case and control group was not statistically significant,respectively (x2 =5.649,4.394,0.865,1.490,all P ＞ 0.05).There were 1.780(95％CI:1.174 - 2.698),1.681(95％CI:1.081 - 2.615),and 1.790(95％CI:1.014 - 3.158)-fold increase in risk of arsenism for individuals carrying ERCC1 8092CA + AA,XPD Lys751Gln + Gln751Gln,and XPD Asp312Asn + Asn312Asn genotypes compared respectively with individuals canying ERCC1 8092CC,XPD Lys751Lys,and XPD Asp312Asp(all P ＜ 0.05).The sufferers only with XPD Arg156Arg or XPC P(AT +/-) didn't have higher risk of arsenism(all P ＞ 0.05).Conclusion The results of this study suggest that the gene polymorphisms of ERCC1 C8092A,XPD Lys751Gln,and Asp312Asn are related to the arsenism caused by coal-burning. \n \nKey words: \nArsenic poisoning; Coal; Polymorphism, genetic; Gene frequency","PeriodicalId":55880,"journal":{"name":"中华地方病学杂志","volume":"37 1","pages":"633-637"},"PeriodicalIF":0.0000,"publicationDate":"2011-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Relationship between the genetic polymorphisms in nucleotide excision repair genes of ERCC1, XPD, XPC and the arsenism caused by coal-burning\",\"authors\":\"Shaofeng Wei, A. 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引用次数: 0

摘要

目的探讨切除修复交叉互补1 (ERCC - 1)、着色性干皮病D组(XPD)、着色性干皮病C组(XPC)基因多态性与燃煤致砷中毒风险的关系。方法选择贵州省兴仁县交乐村砷中毒病区患者229例作为实验组。选取大诺多村生活习惯相近但未烧高砷煤的198名居民作为对照组。取2 ml静脉血样，采用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)测定ERCC1 C8092A、XPD Lys751Gln、XPD Asp312Asn、XPD Arg156Arg和XPC P(AT +/-)基因多态性。分析了基因型与砷中毒风险的关系。结果病例组ERCC1 8092CA/AA基因型频率[CA: 29.78% (67/225)，AA:10.67%(24/225)]显著高于对照组[CA:23.08%(45/195)，AA:5.13%(10/195)，x2 =8.116,P < 0.05]。病例组与对照组其他基因多态性频次差异无统计学意义(x2 =5.649、4.394、0.865、1.490,P均> 0.05)。与携带ERCC1 8092CA + AA、XPD Lys751Gln + Gln751Gln、XPD Asp312Asn基因型的个体相比，携带ERCC1 8092CA + AA、XPD Lys751Lys和XPD Asp312Asp基因型个体的砷中毒风险分别增加1.780倍(95%CI:1.174 ~ 2.698)、1.681倍(95%CI:1.081 ~ 2.615)和1.790倍(95%CI:1.014 ~ 3.158)(均P < 0.05)。仅含XPD Arg156Arg或XPC P(AT +/-)的患者砷中毒风险均不高于对照组(P > 0.05)。结论ERCC1 C8092A、XPD Lys751Gln、Asp312Asn基因多态性与燃煤引起的砷中毒有关。关键词:砷中毒;煤炭;基因多态性;基因频率

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Relationship between the genetic polymorphisms in nucleotide excision repair genes of ERCC1, XPD, XPC and the arsenism caused by coal-burning

Objective To investigate the relationship between genetic polymorphisms in excision repair cross-complementing 1 (ERCC 1 ),xeroderma pigmentosum group D (XPD),xeroderma pigmentosum group C (XPC) and the risk of arsenism caused by coal-burning.Methods Two hundred and twenty-nine patients with arsenism in the endemic area of Jiaole village Xingren county Guizhou province were selected into experimental group.One hundred and ninety-eight inhabitants who had similar living habits but did no burning coal with high arsenic in Dagnoduo village were selected into control group.Two milliliters vein blood samples were taken and analyzed with polymerase chain reaction-restriction frgment length polymorphism technique (PCR-RFLP) to measure the gene polymorphisms of ERCC1 C8092A,XPD Lys751Gln,XPD Asp312Asn,XPD Arg156Arg,and XPC P(AT +/-).Relationship between genotype and the risk of arsenism was also analyzed.Results The frequency of ERCC1 8092CA/AA geno-type in case group [ CA:29.78％ (67/225),AA:10.67％ (24/225) ] was significantly higher than that of control group[CA:23.08％(45/195),AA:5.13％(10/195),x2 =8.116,P ＜ 0.05].The frequency difference of other gene polymorphisms between case and control group was not statistically significant,respectively (x2 =5.649,4.394,0.865,1.490,all P ＞ 0.05).There were 1.780(95％CI:1.174 - 2.698),1.681(95％CI:1.081 - 2.615),and 1.790(95％CI:1.014 - 3.158)-fold increase in risk of arsenism for individuals carrying ERCC1 8092CA + AA,XPD Lys751Gln + Gln751Gln,and XPD Asp312Asn + Asn312Asn genotypes compared respectively with individuals canying ERCC1 8092CC,XPD Lys751Lys,and XPD Asp312Asp(all P ＜ 0.05).The sufferers only with XPD Arg156Arg or XPC P(AT +/-) didn't have higher risk of arsenism(all P ＞ 0.05).Conclusion The results of this study suggest that the gene polymorphisms of ERCC1 C8092A,XPD Lys751Gln,and Asp312Asn are related to the arsenism caused by coal-burning. Key words: Arsenic poisoning; Coal; Polymorphism, genetic; Gene frequency

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来源期刊

中华地方病学杂志我国对人类健康危害特别严重的地方性疾病：克山病、大骨节病、碘缺乏病、地方性氟中毒、地方性砷中毒、鼠疫、布鲁氏菌病、寄生虫、新冠肺炎等疾病，同时还报道多发性自然疫源性疾病。

CiteScore

1.60

自引率

0.00%

发文量

8714

期刊介绍： The Chinese Journal of Endemiology covers predominantly endemic diseases threatening health of the people in the areas affected by the diseases including Keshan disease, Kaschin-Beck Disease, iodine deficiency disorders, endemic fluorosis, endemic arsenism, plague, epidemic hemorrhagic fever, brucellosis, parasite diseases and the diseases related to local natural and socioeconomic conditions; and reports researches in the basic science, etiology, epidemiology, clinical practice, control as well as multidisciplinary studies on the diseases.