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한국인 남녀 알코올 의존 환자에서의 알코올 대사 효소 유전자 다형성에 관한 연구

Genetic Polymorphism of Alcohol Metabolizing Enzymes, CYP2E1, in Korean Male and Female Alcoholic Patients

김현경|김성곤|변원탄|황인복|강철중
대한생물치료정신의학회 (Korean Society Of Biological Therapies In Psychiatry)|2006.06|생물치료정신의학 (Journal of the Korean Society of Biological Therapies in Psychiatry)|제12권 제1호|pp. 83-92

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참고문헌

키워드

알코올 의존alcohol dependence유전적 다형성CYP2E1genetic polymorphism
주제분류정신과학

초록

목적:알코올 의존의 발생에서 유전적 원인이 남녀간에 다를 수 있음을 보여주는 선행 연구 결과들이 있다. 따라서 알코올 대사 효소 유전자들의 유전적 중요성이 남녀간 차이가 있을 것이라는 가설 하에 한국인 알코올 의존 환자와 정상인을 대상으로 cytochrom P4502E1 (CYP2E1) 유전자의 5-flank 부위 (제한효소 RsaI과 PstI), intron 6 부위 (제한효소 Dra I) 및 intron 7 부위 (제한효소 TaqI)의 유전자형의 빈도를 조사하고 남녀 각각 차이가 있는지를 비교 분석하였다.방법:알코올 의존 환자 144명 (남자 104명, 여자 40명)과 정상인 138명 (남자79명, 여자 59명)을 대상으로 CYP2E1유전자의 5-flank 부위 (제한효소 RsaI과 PstI)의 c1c1과 c1c2 및+c2c2 (이하 c2+) 유전자형, intron 6 부위 (제한효소 Dra I)의 DD와 DC+CC (이하 C+) 유전자형 및 intron 7 부위 (제한효소 TaqI)의 A2A2와 A2A1+A1A1 (이하 A1+) 유전자형에 빈도를 남녀 각각 비교하였다. 유전자형의 분석은 말초혈액 백혈구에서 DNA를 분리한 후 PCR-RFLP 방법을 이용하여 실시하였다.

Abstract

Objective: Alcohol is metabolized in hepatocyte through alcohol dehydrogenase (ADH), microsomal ethanol oxidizing system (MEOS) and catalase. In cases of alcohol dependence, the activity level of the MEOS increases, especially Cytochrome P450 2E1 (CYP2E1). The goal of this study was to investigate whether the CYP2E1 polymorphism is associated with alcohol dependence, and to investigate gender differences in the frequencies of CYP2E1 genotypes and alleles.Method: The subjects were Korean male (n=104) and female (n=40) alcohol dependent patients diagnosed with Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV). Control groups were healthy Korean male (n=79) and female (n=59) subjects who do not drink over five standard drinks per month. Subjects CYP2E1 polymorphisms (RsaI+PstI, Dra I and TaqI) were determined by a polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).Results: 1) In male subjects, there was no association between alcoholics and control groups in the genotype frequency and the allele frequency of the three polymorphisms of CYP2E1. 2) In female alcoholics, the frequency of the A1A1 and A1A2 genotypes of the TaqI polymorphism was significantly higher than in the female control groups (df=2, 2=6.42, p=0.04), while other frequency levels of genotypes and alleles were not significant.Conclusions: These findings suggest genetic associations between CYP2E1 polymorphism and female alcohol dependence but not male. It is suggested that there might be gender differences in the genetic risk for alcohol dependence.

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관련 논문AI추천

한국인 알코올 의존 환자에서 알코올 대사 효소 유전자형 빈도의 남녀 차이김명정, 김성곤, 김성연, 김철민, 박제민, 송영상, 이덕기, 이현숙, 전은숙, 최병무, 황인복대한신경정신의학회 · 신경정신의학2005 · 제44권 제2호ADH1B와 ALDH2 활성 조합이 젊은 한국인의 음주 행동에 미치는 영향김시경, 박재영, 이상익대한생물정신의학회 · 생물정신의학2010 · 제17권 제1호ADH1B와 NQO2 유전다 다형성이 알코올 의존의 발병연령과 금단증상에 미치는 영향서정석, 윤성구, 이영식, 조근호, 최삼욱, 한덕현대한신경정신의학회 · 신경정신의학2007 · 제46권 제3호알코올 대사 효소들의 유전적 다형성이 음주 행태 및 간경변증 발생에 미치는 영향김헌, 기주영, 김민옥, 박선미, 안성철, 유일영, 윤세진, 채지영, 채희복, 홍의실대한간학회 · Clinical and Molecular Hepatology2003 · 제9권 제2003호The Genetic Factors Affecting Drinking Behaviors of Korean Young Adults with Variant Aldehyde Dehydrogenase 2 Genotype김시경, 손정우, 신철진, 이상익, 주가원대한신경정신의학회 · PSYCHIATRY INVESTIGATION2010 · 제7권 제4호Alcoholics 환자와 Alcohol Dehydrogenase강병조, 신창규, 이종학, 정태호대한생물치료정신의학회 · 생물치료정신의학1995 · 제1권 제2호

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