CAJ | 학술논문

目的探讨中国女性人群DNA修复基因X线修复交叉互补基因1(XRCC1)Arg194Trp、Arg399Gln多态与乳腺癌易感性的关系.方法采用病例对照研究设计,包括经组织病理学确诊的女性乳腺癌患者698例和按地区、年龄频数匹配的对照人群813名,以聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法进行多态性检测,应用logistic回归计算OR值及95%CI值,运用Meta分析估计Arg399Gln与中国女性人群乳腺癌危险性的关联.结果 XRCC1基因194位点3种基因型Arg/Arg、Arg/Trp、Trp/Trp及Arg/Trp+Trp/Trp在病例组分布频率分别为48.81%(327/670)、39.85%(267/670)、11.34%(76/670)和51.19%(343/670),在对照组中分别为48.80%(387/793)、41.99%(333/793)、9.21%(73/793)和51.20%(406/793).与Arg/Arg比较各基因型的校正OR值(95%CI值)分别为0.98(0.75～1.28)、1.17(0.76～1.80)、1.09(0.86～1.40).399位点Arg/Arg、Arg/Gln、Gin/Gin和Arg/Gln+Gin/Gin基因型频率在病例组分别为52.40%(349/666)、38.29%(255/666)、9.31%(62/666)和47.60%(317/666),对照组分别为52.22%(412/789)、38.53%(304/789)、9.25%(73/789)和47.78%(377/789).与Arg/Arg比较各基因型的校正OR值(95%CI值)分别为0.93(0.63～1.08)、0.96(0.42～1.09)、0.91(0.62～1.05).未见两位点多态与乳腺癌危险性之间存在关联.分别以绝经状况、哺乳、生育、口服避孕药史进行分层,未发现两多态位点与乳腺癌危险性的显著关联.Meta分析结果提示Arg399Gln位点与中国女性乳腺癌无相关性(OR=0.97,95%CI:0.85～1.10).结论 XRCC1基因Arg194Trp和Arg399Gln多态性可能不是中国女性人群乳腺癌的易感性标志物.
목적 탐토중국녀성인군DNA수복기인X선수복교차호보기인1(XRCC1)Arg194Trp、Arg399Gln다태여유선암역감성적관계.방법 채용병례대조연구설계,포괄경조직병이학학진적녀성유선암환자698례화안지구、년령빈수필배적대조인군813명,이취합매련반응-한제성편단장도다태성(PCR-RFLP)방법진행다태성검측,응용logistic회귀계산OR치급95%CI치,운용Meta분석고계Arg399Gln여중국녀성인군유선암위험성적관련.결과 XRCC1기인194위점3충기인형Arg/Arg、Arg/Trp、Trp/Trp급Arg/Trp+Trp/Trp재병례조분포빈솔분별위48.81%(327/670)、39.85%(267/670)、11.34%(76/670)화51.19%(343/670),재대조조중분별위48.80%(387/793)、41.99%(333/793)、9.21%(73/793)화51.20%(406/793).여Arg/Arg비교각기인형적교정OR치(95%CI치)분별위0.98(0.75～1.28)、1.17(0.76～1.80)、1.09(0.86～1.40).399위점Arg/Arg、Arg/Gln、Gin/Gin화Arg/Gln+Gin/Gin기인형빈솔재병례조분별위52.40%(349/666)、38.29%(255/666)、9.31%(62/666)화47.60%(317/666),대조조분별위52.22%(412/789)、38.53%(304/789)、9.25%(73/789)화47.78%(377/789).여Arg/Arg비교각기인형적교정OR치(95%CI치)분별위0.93(0.63～1.08)、0.96(0.42～1.09)、0.91(0.62～1.05).미견량위점다태여유선암위험성지간존재관련.분별이절경상황、포유、생육、구복피잉약사진행분층,미발현량다태위점여유선암위험성적현저관련.Meta분석결과제시Arg399Gln위점여중국녀성유선암무상관성(OR=0.97,95%CI:0.85～1.10).결론 XRCC1기인Arg194Trp화Arg399Gln다태성가능불시중국녀성인군유선암적역감성표지물.
Objective To study the relationship between two polymorphisms,Arg194Trp and Arg399Glu,of DNA repair gene X-ray repair cross-complementing group 1 (XRCC1) and the susceptibility of breast cancer in Chinese women.Methods A case-control study with 698 histologically-confirmed female breast cancer cases and 813 cancer-free controls frequency-matched by age and residential area was conducted,and the genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assays.Logistic regression analysis was used to evaluate the odds ratios (ORs) and 95% confidence intervals (CIs) of XRCC1 Arg194Trp and Arg399Glu with susceptibility of breast cancer.A Meta-analysis was used to evaluate the association of Arg399Glu with breast cancer in Chinese women.Results The genotype frequencies of Arg/Arg,Arg/Trp,Trp/Trp,Arg/Trp+Trp/Trp of XRCC1 gene 194 locus were 48.81% (327/670) ,39.85% (267/670) ,11.34% (76/670) ,51.19% (343/670) in cases and 48.80% (387/793) ,41.99% (333/793) ,9.21% (73/793) ,51.20% (406/793) in controls.Compared to Arg/Arg,the adjusted ORs (95% CIs) were 0.98 (0.75-1.28) ,1.17 (0.76-1.80) ,1.09 (0.86-1.40) .The frequencies of Arg/Arg,Arg/Trp,Trp/Trp,Arg/Gln+Gin/Gin of XRCC1 399 locus were 52.40% (349/666) ,38.29% (255/666) ,9.31% (62/666) ,47.60% (317/666) in cases and 52.22% (412/789) ,38.53% (304/789) ,9.25% (73/789) ,47.78% (377/789) in controls.Compared to Arg/Arg,the adjusted ORs (95% CIs) were 0.93 (0.63-1.08) ,0.96 (0.42-1.09) ,0.91 (0.62-1.05) .No significant associations were found between these two polymorphisms and breast cancer risk,also in subgroups stratified by menopause status,history of breast-feed,reproduction and taking oral contraceptives.The overall ORs (95% CIs) of 399 Arg/Trp + Trp/Trp vs Arg/Arg from Meta analysis was 0.97 (0.85-1.10) .Conclusion The XRCC1 Arg194Trp and Arg399Gln may not play an important role in the susceptibility of breast cancer in Chinese women.