中华内科杂志
中華內科雜誌
중화내과잡지
CHINESE JOURNAL OF INTERNAL MEDICINE
2011年
10期
859-862
,共4页
汤芳芳%欧阳建%徐勇%周荣富%周敏%陈兵%张启国%冯秀%张弦%陈敏敏%曾一%徐岳一
湯芳芳%歐暘建%徐勇%週榮富%週敏%陳兵%張啟國%馮秀%張絃%陳敏敏%曾一%徐嶽一
탕방방%구양건%서용%주영부%주민%진병%장계국%풍수%장현%진민민%증일%서악일
白血病,淋巴细胞,急性%多态性,单核苷酸%XPA基因%XPC基因%XPD基因%XRCC1基因
白血病,淋巴細胞,急性%多態性,單覈苷痠%XPA基因%XPC基因%XPD基因%XRCC1基因
백혈병,림파세포,급성%다태성,단핵감산%XPA기인%XPC기인%XPD기인%XRCC1기인
Leukemia,lymphoblastic,acute%Polymorphism,single nucleotide%XPA gene%XPC gene%XPD gene%XRCC1 gene
目的 研究中国人群DNA修复基因XPA A23G、XPC C499T和A939C、XPD T751G、XRCC1 G399A和C194T单核苷酸多态性与急性淋巴细胞白血病(ALL)遗传易感性的关系。方法 采用病例-对照研究方法，以Mass-ASSAY平台的基质辅助激光解吸电离飞行时间串联质谱(MALDI-TOF-MS)技术对114例确诊的ALL病例和169例年龄、性别相匹配的正常对照者进行多态性检测，比较不同基因型与ALL风险的关系。结果 与携带XPA 23AA基因型者相比，携带至少1个23G等位基因(即23GG和23AG基因型)的个体ALL风险是其2.02倍(95％CI1.08 ～3.78)，而同时有XPAA23G和XPC C499T 2个位点突变者ALL风险是其5.60倍(95％ CI 1.57～19.90)。XPD T751G、XRCC1 G399A和C194T多态性与ALL易感性之间无显著相关性。结论 XPA A23G和ⅪC C499T 多态性可能与中国人群ALL遗传易感性有关，且存在显著的协同效应。
目的 研究中國人群DNA脩複基因XPA A23G、XPC C499T和A939C、XPD T751G、XRCC1 G399A和C194T單覈苷痠多態性與急性淋巴細胞白血病(ALL)遺傳易感性的關繫。方法 採用病例-對照研究方法，以Mass-ASSAY平檯的基質輔助激光解吸電離飛行時間串聯質譜(MALDI-TOF-MS)技術對114例確診的ALL病例和169例年齡、性彆相匹配的正常對照者進行多態性檢測，比較不同基因型與ALL風險的關繫。結果 與攜帶XPA 23AA基因型者相比，攜帶至少1箇23G等位基因(即23GG和23AG基因型)的箇體ALL風險是其2.02倍(95％CI1.08 ～3.78)，而同時有XPAA23G和XPC C499T 2箇位點突變者ALL風險是其5.60倍(95％ CI 1.57～19.90)。XPD T751G、XRCC1 G399A和C194T多態性與ALL易感性之間無顯著相關性。結論 XPA A23G和ⅪC C499T 多態性可能與中國人群ALL遺傳易感性有關，且存在顯著的協同效應。
목적 연구중국인군DNA수복기인XPA A23G、XPC C499T화A939C、XPD T751G、XRCC1 G399A화C194T단핵감산다태성여급성림파세포백혈병(ALL)유전역감성적관계。방법 채용병례-대조연구방법，이Mass-ASSAY평태적기질보조격광해흡전리비행시간천련질보(MALDI-TOF-MS)기술대114례학진적ALL병례화169례년령、성별상필배적정상대조자진행다태성검측，비교불동기인형여ALL풍험적관계。결과 여휴대XPA 23AA기인형자상비，휴대지소1개23G등위기인(즉23GG화23AG기인형)적개체ALL풍험시기2.02배(95％CI1.08 ～3.78)，이동시유XPAA23G화XPC C499T 2개위점돌변자ALL풍험시기5.60배(95％ CI 1.57～19.90)。XPD T751G、XRCC1 G399A화C194T다태성여ALL역감성지간무현저상관성。결론 XPA A23G화ⅪC C499T 다태성가능여중국인군ALL유전역감성유관，차존재현저적협동효응。
Objective To study the relationship between polymorphism of genes XPA, XPC, XPD,XRCC1 and susceptibility to acute lymphoblastic leukemia (ALL) in a Chinese population.Methods Polymorphism were determined by a case-control study through matrix-assisted laser desorption/ionization tandem time-of-flight mass spectrometry method of Mass-ASSAY platform in 114 confirmed ALL cases and 169 age- and sex- matched controls, so as to compare the relationship between differert genotypes and ALL risk.Results Multivariate logistic regression analysis revealed that individuals carrying at least one 23G variant allele(AG/GG genotypes) had a significantly increased risk for ALL (adjusted OR 2.02; 95％ CI 1.08-3.78) compared with the wild-type genotype (23 AA), and evidence that positive interactions between the polymorphisms in XPC C499T and XPA A23G might occur.Furthermore, individuals with both putative risk genotypes had a significantly higher risk (adjusted OR 5.60; 95％ CI 1.57-19.90), compared with those with both wild-genotypes. By contrast, no significant association was observed between the XPD T751G, XRCC1 G399A, C194T pelymorphism and ALL risk.Conclusions XPA A23G and XPC C499T polymorphism may contribute to the risk of developing ALL.There are significant combinations between XPC C499T and XPA A23G.
