中南大学学报（医学版）
中南大學學報（醫學版）
중남대학학보（의학판）
JOURNAL OF CENTRAL SOUTH UNIVERSITY (MEDICAL SCIENCES)
2008年
4期
284-292
,共9页
郭万军%贡嘎兰孜%欧珠罗布%马小红%王英成%普珍%魏庚%姬郁林%王铮%严成英%巴桑卓玛%石小明%刘协和%李涛%CHEN Li-wen
郭萬軍%貢嘎蘭孜%歐珠囉佈%馬小紅%王英成%普珍%魏庚%姬鬱林%王錚%嚴成英%巴桑卓瑪%石小明%劉協和%李濤%CHEN Li-wen
곽만군%공알란자%구주라포%마소홍%왕영성%보진%위경%희욱림%왕쟁%엄성영%파상탁마%석소명%류협화%리도%CHEN Li-wen
酒精使用障碍%CYP2E1基因%藏族
酒精使用障礙%CYP2E1基因%藏族
주정사용장애%CYP2E1기인%장족
alcohol use disorders%CYP2E1 gene%Tibetan
目的:用病例对照研究的方法,对拉萨郊县藏族人群中CYP2E1基因的*c1/*c2多态性与酒精使用障碍之间进行关联分析,以期发现他们之间的相关性以及该基因多态性对酒精使用障碍严重程度及相关因子的影响.方法:使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对 655份DNA标本的CYP2E1 *c1/*c2多态性进行基因分型.其中340份DNA来自酒精使用障碍鉴别测试(AUDIT)总分≥10的酒精使用障碍被试,另315份DNA来自AUDIT≤5的正常对照被试.将基因分型结果与酒精使用障碍进行关联分析.结果:不论在病例组还是对照组,该等位基因频率的分布均符合Hardy-Weinberg平衡定律.病例组CYP2E1 *c2等位基因的频率(16.2%)明显高于对照组(10.8%),其P值为0.005,OR值为1.60(95%可信区间为1.15～2.21).病例组带有*c2等位基因的基因型(*c1/c2+*c2/c2)频率明显比对照组高(28.5%vs.18.7%;χ2>=8.65,P=0.003;OR=1.73);在男性中,这样的差异性更显著,其OR值高达2.30;但在女性中,差异却无统计学意义.男性病例组中的*c2等位基因能使AUDIT及酒精依赖严重程度问卷(SADQ)中描述个体饮酒量的因子得分增加.结论:在该藏族人群中,特别是男性中，CYP2E1*c2等位基因与酒精使用障碍及饮酒量的增加均有关联.
目的:用病例對照研究的方法,對拉薩郊縣藏族人群中CYP2E1基因的*c1/*c2多態性與酒精使用障礙之間進行關聯分析,以期髮現他們之間的相關性以及該基因多態性對酒精使用障礙嚴重程度及相關因子的影響.方法:使用聚閤酶鏈反應-限製性片段長度多態性(PCR-RFLP)方法對 655份DNA標本的CYP2E1 *c1/*c2多態性進行基因分型.其中340份DNA來自酒精使用障礙鑒彆測試(AUDIT)總分≥10的酒精使用障礙被試,另315份DNA來自AUDIT≤5的正常對照被試.將基因分型結果與酒精使用障礙進行關聯分析.結果:不論在病例組還是對照組,該等位基因頻率的分佈均符閤Hardy-Weinberg平衡定律.病例組CYP2E1 *c2等位基因的頻率(16.2%)明顯高于對照組(10.8%),其P值為0.005,OR值為1.60(95%可信區間為1.15～2.21).病例組帶有*c2等位基因的基因型(*c1/c2+*c2/c2)頻率明顯比對照組高(28.5%vs.18.7%;χ2>=8.65,P=0.003;OR=1.73);在男性中,這樣的差異性更顯著,其OR值高達2.30;但在女性中,差異卻無統計學意義.男性病例組中的*c2等位基因能使AUDIT及酒精依賴嚴重程度問捲(SADQ)中描述箇體飲酒量的因子得分增加.結論:在該藏族人群中,特彆是男性中，CYP2E1*c2等位基因與酒精使用障礙及飲酒量的增加均有關聯.
목적:용병례대조연구적방법,대랍살교현장족인군중CYP2E1기인적*c1/*c2다태성여주정사용장애지간진행관련분석,이기발현타문지간적상관성이급해기인다태성대주정사용장애엄중정도급상관인자적영향.방법:사용취합매련반응-한제성편단장도다태성(PCR-RFLP)방법대 655빈DNA표본적CYP2E1 *c1/*c2다태성진행기인분형.기중340빈DNA래자주정사용장애감별측시(AUDIT)총분≥10적주정사용장애피시,령315빈DNA래자AUDIT≤5적정상대조피시.장기인분형결과여주정사용장애진행관련분석.결과:불론재병례조환시대조조,해등위기인빈솔적분포균부합Hardy-Weinberg평형정률.병례조CYP2E1 *c2등위기인적빈솔(16.2%)명현고우대조조(10.8%),기P치위0.005,OR치위1.60(95%가신구간위1.15～2.21).병례조대유*c2등위기인적기인형(*c1/c2+*c2/c2)빈솔명현비대조조고(28.5%vs.18.7%;χ2>=8.65,P=0.003;OR=1.73);재남성중,저양적차이성경현저,기OR치고체2.30;단재녀성중,차이각무통계학의의.남성병례조중적*c2등위기인능사AUDIT급주정의뢰엄중정도문권(SADQ)중묘술개체음주량적인자득분증가.결론:재해장족인군중,특별시남성중，CYP2E1*c2등위기인여주정사용장애급음주량적증가균유관련.
Objective To investigate the relationship between the CYPphism and alcohol use disorders, and the potential influence of the CYP2E1 * c1/* c2 polymorphismon the severity and dimensions of alcohol use disorders in Tibetan. Methods Three hundred and forty Tibetans with Alcohol Use Disorders Identification Test (AUDIT) score I>10 and another 315 matched control subjects with AUDIT score ≤5 were enrolled. The CYP2E1 * c1/* c2 polymorphism was de-termined by the standard PCR-RFLP method. Results The frequency of the CYP2E1 * c2 allele in subjects with alcohol use disorders ( 16. 2 % ) was significantly higher than that of the controls(10.8%) , with a P value of 0. 005 and OR value of 1.60 (95% CI: 1.15～2.21). There was also a significant difference in genotype frequencies between the 2 groups ( χ2= 8.75, P = 0.01).Subjects with alcohol use disorders had higher frequencies of genotypes with at least one copy of allele c2 (28.5% vs. 18.7%; χ2=8.65, P=0.003; 0R=1.73) than the control group. The associ-ation of CYP2E1 * c2 allele with alcohol use disorders was much stronger in males than in females,with a male OR value of 2.30. CYP2E1 * c2 allele was associated with increased alcohol consumption and alcohol use disorders in males. Conclusion There is the positive association among CYP2E1 * c2 allele, alcohol use disorders, and the amount of alcohol consumption in Tibetan population.
