foxo3a akt1 igf2r基因单核苷酸多态性与中国四川地区汉族长寿人群的关联研究 word格式.docxVIP

FOXO3A、AKT1、IGF-2R 基因单核苷酸多态性与中国四川地区汉族长寿人群的关联研究中文摘要目的：探讨FOXO3A、AKT1、IGF-2R基因单核苷酸多态性与中国四川地区汉族长寿人群的关联性。方法：本研究对象为576例长寿个体和626例年轻对照个体。对FOXO3A、AKT1、IGF-2R基因区域内的12个单核苷酸多态性位点（SNPs），运用SNaPShot单碱基延伸法进行基因分型，应用Haploview（vision4.2）单倍型分析。结果：FOXO3A基因上rs9486902位点的最小等位基因频率值（minorallele frequency,MAF）长寿实验组高于对照组(P=0.003)。性别分层分析后，FOXO3A基因上rs9486902位点的MAF值女性长寿组高于女性对照组(P=0.008)，在男性组，该位点则显示无统计学差异（P=0.073）。单倍型分析显示：FOXO3A基因上rrs2764264、rs9400239、rs1935949、rs9486902在同一个Block，形成三个单倍型（TTCTT、CCTTC和CTCCT）在实验组和对照组之间显示有统计学差异（P=0.006、2.78×10-5、4.68×10-6），AKT1基因上rs3803304、rs2494731、rs2494732、rs2498796、r成两个单倍型（GGTCGG和GGTCAG）在实验组和对照组之间有统计学差异（P=0.003、0.005）。结论：FOXO3A基因的rs9486902多态性位点与中国四川地区汉族长寿人群存在相关性，本研究尚未发现AKT1基因和IGF-2R基因上的单核苷酸多态性位点与中国四川地区汉族长寿人群相关。关键词：人类长寿；FOXO3A基因；AKT1基因；IGF-2R基因；单核苷酸多态性（SNP）AssociationStudyofPolymorphismsinFOXO3A，AKT1，andIGF-2RGeneswith HumanLongevity in a Han Chinese Population in Sichuan Region.AbstractObjective:Toinvestigateassociationbetween FOXO3A，AKT1,andIGF-2Rgenes singlenucleotidepolymorphisms(SNPs)withhumanlongevityinaHanChinese population in Sichuan region.Methods:Inthisstudy,576long-livedindividualsand626youngercontrolpopulationwerestudied.TwelveSNPsfromFOXO3A，AKT1,andIGF-2Rwereselectedand genotypedbyusingSnapshottechnology.ThehaplotypeblockswereestimatedbyusingSoftware HaploviewVision 4.2.Results:Theminorallelefrequencies(MAFs)ofrs9486902inFOXO3Aweregreaterin longevitygroupthanthatincontrol(P-value=0.003).Aftergenderstratificationanalysis, theMAFsofrs9486902ofFOXO3Aweremuchhigherinhumanfemalelongevitygroupthanthatincontrol(P-value=0.008),theassociationofrs9486902didnotshowastatistic differencebetweenthemalelongevitygroupsandcontrols(P-value=0.073).Byhaplotype associationtest, threehaplotypes includingTTCTT, CCTTCandCTCCTinFOXO3Aweregeneratedfromrrs2764264,rs9400239,rs1935949、rs9486902andshowedasignificant differencebetweencasesandcontrols (P-value=0.006, 2.78×10-5and4.68×10-6, respectively).Thetwohaplotypes(GGTCGGandGGTCAG),generatedfromrs38