CAJ | 학술논문

目的探讨肿瘤抑制基因P53 (tumor suppressor gene,P53)多态性与子宫内膜异位症(endometriosis,EM)遗传易感性的相关性.方法应用等位基因特异性PCR技术结合DNA测序的方法对460例EM患者、650例无EM妇女(对照组)及113例子宫内膜癌患者的P53基因rs1042522位点(G/C)多态性进行分析.结果各组均存在P53 (rs1042522) G/C多态性,且P53 (rs1042522)位点等位基因及基因型的分布在EM组与对照组之间差异有统计学意义(P值均小于0.01),其中等位基因C使EM发病风险提高1.179倍,等位基因G使其风险降低0.854倍；GC与GG基因型相比患EM的危险度增高1.548倍(95％CI为1.153～2.081),CC与GG基因型相比患EM的危险度增高1.865倍(95％CI为1.326～2.625).P53 (rs1042522)位点等位基因及基因型的分布在子宫内膜癌组与对照组之间差异有统计学意义(P值均小于0.01),且等位基因C使内膜癌发病风险提高1.278倍,而等位基因G使其风险降低0.772倍；GC与GG基因型相比患内膜癌的危险度增高2.074倍(95％CI为1.197～3.599),CC与GG基因型相比患内膜癌的危险度增高2.864倍(95％CI为1.557～5.263).P53 (rs1042522)位点等位基因及基因型的分布在EM组与子宫内膜癌组之间差异无统计学意义.结论 P53基因rs1042522位点(G/C)的单核苷酸多态性与EM遗传易感性存在相关性,且从遗传学角度分析,EM的发病机制可能更类似于肿瘤.
목적 탐토종류억제기인P53 (tumor suppressor gene,P53)다태성여자궁내막이위증(endometriosis,EM)유전역감성적상관성.방법 응용등위기인특이성PCR기술결합DNA측서적방법대460례EM환자、650례무EM부녀(대조조)급113례자궁내막암환자적P53기인rs1042522위점(G/C)다태성진행분석.결과 각조균존재P53 (rs1042522) G/C다태성,차P53 (rs1042522)위점등위기인급기인형적분포재EM조여대조조지간차이유통계학의의(P치균소우0.01),기중등위기인C사EM발병풍험제고1.179배,등위기인G사기풍험강저0.854배；GC여GG기인형상비환EM적위험도증고1.548배(95％CI위1.153～2.081),CC여GG기인형상비환EM적위험도증고1.865배(95％CI위1.326～2.625).P53 (rs1042522)위점등위기인급기인형적분포재자궁내막암조여대조조지간차이유통계학의의(P치균소우0.01),차등위기인C사내막암발병풍험제고1.278배,이등위기인G사기풍험강저0.772배；GC여GG기인형상비환내막암적위험도증고2.074배(95％CI위1.197～3.599),CC여GG기인형상비환내막암적위험도증고2.864배(95％CI위1.557～5.263).P53 (rs1042522)위점등위기인급기인형적분포재EM조여자궁내막암조지간차이무통계학의의.결론 P53기인rs1042522위점(G/C)적단핵감산다태성여EM유전역감성존재상관성,차종유전학각도분석,EM적발병궤제가능경유사우종류.
Objective To assess the association of a single nucleotide polymorphism (SNP) in tumor suppressor geneP53 with the risk of endometriosis (EM) in Han Chinese women.Methods For 460 EM patients,113 patients with endometrial carcinoma and 530 matched unrelated controls,a rs1042522(C/G) SNP of the P53 gene was genotyped by polymerase chain reaction-single strand polymorphism (PCR-SSP) and DNA sequencing.Results A significant difference has been detected in the distribution of rs1042522 alleles and genotypes between the EM patients and controls (P＜0.01).Allele G has increased the risk of EM by 1.209 times,while allele C has reduced this risk by 0.837 times.Compared with GG genotype,GC and CC genotypes have both increased the risk for EM (OR=2.073,95％CI:1.521-2.820,and OR=1.930,95 ％CI:1.363-2.733,respectively).Significant differences were also detected in the distribution of rs1042522 alleles and genotypes between endometrial carcinoma patients and controls (P＜0.01).Allele G has increased the risk to endometrial carcinoma by 1.311 times,while allele C has reduced this risk by 0.757 times.Compared with GG genotypes,individuals with GC and CC genotypes are more likely to be affected with endometrial carcinoma (OR=2.778,95％CI:1.585-4.870,and OR=2.864,95％CI:1.557-5.263,respectively).Conclusion Our study has suggested a significant association between the rs1042522(G/C) polymorphism and susceptibility to EM in Han Chinese women.The mechanism of EM is similar to carcinoma from genetics point of view.