中华外科杂志
中華外科雜誌
중화외과잡지
CHINESE JOURNAL OF SURGERY
2012年
1期
53-56
,共4页
宋传责%傅芳萌%吴雪英%王川%邵志敏
宋傳責%傅芳萌%吳雪英%王川%邵誌敏
송전책%부방맹%오설영%왕천%소지민
乳腺肿瘤%基因%多态性,单核苷酸%疾病遗传易感性
乳腺腫瘤%基因%多態性,單覈苷痠%疾病遺傳易感性
유선종류%기인%다태성,단핵감산%질병유전역감성
Breast neoplasms%Genes%Polymorphism,single nucleotide%Genetic predisposition to disease
目的 探讨murine double minute 4(MDM4)基因的单核苷酸多态性rs1563828(C＞T)在早发性乳腺癌人群中的分布、与乳腺癌发病风险的关联性及其与发病年龄的潜在关系.方法 本研究为病例-对照研究.采用飞行时间质谱分析法对124例早发性乳腺癌患者(发病年龄≤35岁)和101名健康对照者进行MDM4基因rs1563828(C＞T)基因型鉴定.采用x2检验比较基因型分布和发病风险的关系,应用非条件Logistic回归分析计算危险度,两组发病年龄比较采用t检验.结果 对照组MDM4基因rs1563828基因型的分布频率为CC 43.6％ (44/101)、CT 42.6％ (43/101)、TT13.9％(14/101),病例组则依次为42.7％(53/124)、46.0％(57/124)、11.3％(14/124)；两组差异无统计学意义(x2=0.449,P=0.799).Logistic回归分析表明,在早发性乳腺癌人群中,以rs1563828的CC野生基因型为参照,含T基因型(CT,TT)并未改变乳腺癌的发病危险(OR=1.024,95％ CI:0.581～1.806,P=0.934).在乳腺癌人群中,TT基因型携带者的发病年龄低于CT/CC基因型携带者[(30±4)岁比(32±3)岁,P=0.028].结论 MDM4基因rs1563828(C＞T)多态性可能与早发性乳腺癌人群的遗传易感性关联微弱,尚需进一步明确；其TT基因型可能是发病年龄提前的危险因素.
目的 探討murine double minute 4(MDM4)基因的單覈苷痠多態性rs1563828(C＞T)在早髮性乳腺癌人群中的分佈、與乳腺癌髮病風險的關聯性及其與髮病年齡的潛在關繫.方法 本研究為病例-對照研究.採用飛行時間質譜分析法對124例早髮性乳腺癌患者(髮病年齡≤35歲)和101名健康對照者進行MDM4基因rs1563828(C＞T)基因型鑒定.採用x2檢驗比較基因型分佈和髮病風險的關繫,應用非條件Logistic迴歸分析計算危險度,兩組髮病年齡比較採用t檢驗.結果 對照組MDM4基因rs1563828基因型的分佈頻率為CC 43.6％ (44/101)、CT 42.6％ (43/101)、TT13.9％(14/101),病例組則依次為42.7％(53/124)、46.0％(57/124)、11.3％(14/124)；兩組差異無統計學意義(x2=0.449,P=0.799).Logistic迴歸分析錶明,在早髮性乳腺癌人群中,以rs1563828的CC野生基因型為參照,含T基因型(CT,TT)併未改變乳腺癌的髮病危險(OR=1.024,95％ CI:0.581～1.806,P=0.934).在乳腺癌人群中,TT基因型攜帶者的髮病年齡低于CT/CC基因型攜帶者[(30±4)歲比(32±3)歲,P=0.028].結論 MDM4基因rs1563828(C＞T)多態性可能與早髮性乳腺癌人群的遺傳易感性關聯微弱,尚需進一步明確；其TT基因型可能是髮病年齡提前的危險因素.
목적 탐토murine double minute 4(MDM4)기인적단핵감산다태성rs1563828(C＞T)재조발성유선암인군중적분포、여유선암발병풍험적관련성급기여발병년령적잠재관계.방법 본연구위병례-대조연구.채용비행시간질보분석법대124례조발성유선암환자(발병년령≤35세)화101명건강대조자진행MDM4기인rs1563828(C＞T)기인형감정.채용x2검험비교기인형분포화발병풍험적관계,응용비조건Logistic회귀분석계산위험도,량조발병년령비교채용t검험.결과 대조조MDM4기인rs1563828기인형적분포빈솔위CC 43.6％ (44/101)、CT 42.6％ (43/101)、TT13.9％(14/101),병례조칙의차위42.7％(53/124)、46.0％(57/124)、11.3％(14/124)；량조차이무통계학의의(x2=0.449,P=0.799).Logistic회귀분석표명,재조발성유선암인군중,이rs1563828적CC야생기인형위삼조,함T기인형(CT,TT)병미개변유선암적발병위험(OR=1.024,95％ CI:0.581～1.806,P=0.934).재유선암인군중,TT기인형휴대자적발병년령저우CT/CC기인형휴대자[(30±4)세비(32±3)세,P=0.028].결론 MDM4기인rs1563828(C＞T)다태성가능여조발성유선암인군적유전역감성관련미약,상수진일보명학；기TT기인형가능시발병년령제전적위험인소.
Objective To explore effect of polymorphism rs1563828 (C ＞ T) in human murine double minute 4 gene ( MDM4 ) on genetic susceptibility for early-onset breast cancer and potential association with age of onset of breast cancer.Methods One hundred and twenty-four early-onset breast cancer patients (age ≤35 years at time of diagnosis) from independent families admitted from January 2006to June 2010 and 101 age-matched healthy control subjects were analyzed.Genotype analysis was conducted by polymerase chain reaction and then MALDI-TOF-MS assay.Association of genotype distribution and breast cancer risk was evaluated by x2 test.The odd-ratios (OR) and 95％ confidence intervals (CI) were calculated by unconditional Logistic regression model.The t test was used to compare the age and demographic differences among groups.Results The frequency of rs1563828 polymorphism genotypes in control group were CC 43.6％ (44/101),CT 42.6％ (43/101),TT 13.9％ ( 14/101 ),and in case group were 42.7％ ( 53/124 ),46.0％ ( 57/124 ),11.3％ ( 14/124 ),respectively.No significant difference (x2 =0.449,P =0.799) was reached by x2 test.rs1563828CT or TT genotype does not confer a significantly increased risk for breast cancer compared with CC genotype after adjusting for age,menarche in Logistic regression analysis ( OR =1.024,95％ CI:O.581-1.806,P =0.934).TT carriers were observed to develop breast cancer earlier than CC/CT carriers [( 30 ± 4 ) years vs.( 32 ± 3 ) years,P =0.028].Conclusions The rs1563828 (C ＞ T) polymorphism in MDM4 gene may not confer risk to breast cancer,especially for early-onset breast cancer patients.Homozygous TT of rs1563828 is associated with younger age to develop breast cancer.
