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목적 : 도파민 수송체 유전자와 주의력결핍 과잉운동장애의 연관성에 대하여 일관된 연구 결과가 없다. 도파민 수송체 유전자의 다형성 빈도분포는 인종에 따라 다르다. 도파민 수송체 유전자 다형성 빈도 분포의 인종적 차이로 인해 이전 연구 결과를 한국인에 적용하기는 어렵다. 이 연구는 한국인에서 도파민 수송체 유전자와 주의력결핍 과잉운동장애의 연관성을 밝히고 위험 대립유전자를 알아내기 위한 것이다.


Objectives- Study results of association between dopamine transporter gene(DAT1) and attention deficit hyperactivity disorder(ADHD) were not conclusive. Distribution of DAT1 polymorphism is variable according to ethnicity. Ethnic differences in the distribution of DAT1 can be a impediment to apply previous findings to Korean ADHD. This study was to examine the association between DAT1 and ADHD, and the risk allele of ADHD among DAT1 polymorphism in Korean.Methods- DNA extracted from blood of 100 normal controls and 44 ADHD patients. DAT1 with variable number of tandem repeats(VNTR) were determined using polymerase chain reaction. The differences of allelic frequency distribution and genotype frequency distribution between patient group and control group were tested with Fisher's exact test. The pairs of allele and of genotype with difference between the two groups were selected by Fisher's excat test adjusting p-values with permutation method. Odds ratios of two alleles and of two genotypes between the two groups were computed.Results- There was association between DAT1 and ADHD(genotype: P<0.05; allele: P<0.05). Patients with ADHD were more likely to have 440 base pairs than 480 base pairs comparing to controls(OR=4.46, 95% CI: 1.44-13.75). Patients with ADHD were more likely to have 9/10 genotype than 10/10 genotype comparing to controls(OR=3.74, 95% CI: 1.11-12.61). Conclusions-We found the association between DAT1 and ADHD, and possible risk allele of Korean ADHD. Replication of the results in larger sample is needed.