简介：Objective:ToinvestigatewhethervitaminDreceptorgene(VDR)BsmI-rs1544410andFokI-rs2228570polymorphisms,smokingduration,andbodymassindex(BMI)areriskfactorsforcutaneousmelanoma,especiallymetastaticmelanoma.Methods:Westudied120cutaneousmelanomacases[68stageIandIInon-metastaticmelanoma(NMetM)patients,plus52StageIIIandIVmetastaticmelanoma(MetM)patients],and120matchinghealthycontrolsfromnortheastItaly.VDRpolymorphismsweremeasuredbyrestrictionfragmentlengthpolymorphismanalysis.AbsenceorpresenceofBsmIandFokIrestrictionsiteswasdenotedby'B'and'F'orby'b'and'f,'respectively.Results:VDR-BsmIbbgenotypewasmorefrequentamongMetM(32.7%)thanamongNMetMcases(13.2%),withoddsratio(OR)=3.18.Comparisonofallmelanomapatientsvshealthycontrolsshowedthatthefollowingbiomarkerswereatrisk:≥20yearsofsmoking(OR=2.43);≥20yearsofsmokingcombinedwithbb(OR=4.78),Bb+bb(OR=2.30),Ff(OR=3.04),andFf+ff(OR=3.08);obesity(BMI>30Conclusions:RiskfactorsforcutaneousMetMincludetwoVDRpolymorphismscombinedwithsmokingdurationandobesity.Resultssuggestgene-environmentimplicationsinmelanomasusceptibilityandseverity.Futurestudiesinlargercohortsandinsubjectswithdifferentgeneticbackgroundarewarrantedtoextendourfindings.

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简介：目的探讨microRNA（miRNA）-196a2rs116149131基因多态性与胃癌易感性的关系。方法计算机检索PubMed、EMBASE、Cochranelibrary、中国知网、维普、万方及中国生物医学文献（CBD）等数据库中2016年3月1日之前关于miRNA-196a2rs116149131基因多态性与胃癌易感性的相关研究。按纳入与排除标准筛选文献、提取资料并评价纳入研究的质量后,采用Stata12.0软件进行Meta分析,计算合并OR值及其95%CI,并进行发表偏倚评估及敏感性分析。结果共纳入9篇文献,包括3992例患者和5699例对照。Meta分析结果显示,miRNA-196a2rs116149131基因多态性与胃癌易感性无明显相关性。按种族进行亚组分析结果显示,rs116149131基因多态性在杂合子模型中显著增加高加索人种胃癌患病风险（CTvs.TT：OR=1.93,95%CI：1.35-2.75,P〈0.05）;而在亚洲人种中未发现该位点多态性与胃癌易感性有关。根据对照组人群的来源进行亚组分析结果显示,在以医院和以人群为基础的研究中均未发现有与胃癌易感性相关的等位基因或者基因型。在T〈C亚组中,显性基因模型（CT＋CCvs.TT：OR=1.40,95%CI：1.10-1.77,P=0.005）、纯合子模型（CCvs.TT：OR=1.59,95%CI：1.22-2.06,P=0.001）和杂合子模型（CTvs.TT：OR=1.33,95%CI：1.04-1.70,P=0.025）中发现rs116149131基因多态性与胃癌患病风险存在关联性;在等位基因模型和隐性基因模型中并未发现关联性。在T〉C组未发现rs116149131多态性与胃癌患病风险存在关联性。结论miRNA-196a2rs116149131基因多态性与胃癌患病风险无关联性,但存在种族差异。

简介：Objective:Thisstudyaimedtodetermineifgastriccardiaadenocarcinoma(GCA)riskwasassociatedwiththelys(Aor*2)alleleatthers671(glu504lys)polymorphismwithinthealdehydedehydrogenase2(ALDH2)geneinaChineseHanpopulation.WealsoaimedtoinvestigateALDH2genotypicdistributionsbetweensubjectsfromhigh-andlow-incidenceareasforbothGCAandesophagealsquamouscellcarcinoma(ESCC).Methods:Wedesignedacase-controlstudyincluding2,686patientswithGCAand3,675controlsubjectsfromhigh-andlowincidenceareasforbothGCAandESCCinChina.TaqManallelediscriminationassaywasusedtogenotypethers671polymorphism.χ~2testandbinarylogisticregressionanalysiswereusedtoestimatetheoddsratiosforthedevelopmentofGCA,andmultivariateordinallogisticregressionwasusedtoanalyzeALDH2genotypicdistributionsamongdifferentgroups.Results:ComparedwithALDH2*1/*1homozygotes,ALDH2*1/*2andALDH2*2/*2carriersdidnotincreasetheriskforGCAintheChineseHanpopulation(P>0.05).Interestingly,theratioofhomozygousorheterozygousALDH2*2carriersinhighincidenceareasforbothGCAandESCCwaslowerthanthatinlow-incidenceareas(P<0.001).Conclusions:Genotypesofrs671atALDH2maynotincreaseGCAsusceptibilityinChineseHanpopulations.Inaddition,theALDH2genotypicdistributiondiffersbetweenChineseHanpopulationsfromhigh-andlow-incidenceareasforbothGCAandESCC.OurfindingsmayshedlightonthepossiblegeneticmechanismforthedramaticgeographicdifferencesofGCAoccurrenceinChina.

简介：目的探讨CYP1B1基因rs1056836单核苷酸位点多态性与新疆维吾尔族乳腺癌易感性的关系。方法应用聚合酶链反应-限制片段长度多态性（PCR-RFLP）检测125例维吾尔族女性乳腺癌患者（乳腺癌组）和160例体检的健康维吾尔族女性（对照组）CYP1B1基因rs1056836位点多态性,分析该位点多态性在不同群体中的分布情况。采用问卷调查和病例查询的方法收集乳腺癌相关危险因素的资料,用Logistic回归模型分析rs1056836位点多态性与乳腺癌患病风险的相对危险度。结果CYP1B1基因rs1056836位点中存在CC、CG、GG3种基因型,其在乳腺癌组和健康女性对照组中的分布频率分别为43.2%、51.2%、5.6%和60.6%、34.4%、5.0%,两组基因型分布的差异有统计学意义（P〈0.05）;乳腺癌组C、G等位基因的分布频率分别为68.8%、31.2%,对照组分别为77.8%、22.2%,差异有统计学意义（P〈0.05）。Logistic回归模型分析显示携带CC基因型维吾尔族女性的乳腺癌发病风险降低。乳腺癌相关危险因素的分层分析显示初潮早、有肿瘤家族病史、未绝经妇女中携带CG、GG基因型者乳腺癌患病风险明显增加。结论CYP1B1基因rs1056836位点多态性与维吾尔族乳腺癌的发生有关,其突变基因型增加了维吾尔族女性乳腺癌的患病风险。