한국인 주의력결핍 과잉행동장애와 도파민 D5 수용체 유전자 다형성의 관련성： 가족기반 연구 및 환자-대조군 연구

A Family-based and Case-control Association Study of the Dopamine D5 Receptor Gene Polymorphism in Attention Deficit Hyperactivity Disorder

Objectives：Recent genetic studies have suggested a preferential transmission of the Dopamine D5 receptor gene (DRD5) 148bp marker allele. The aim of this study is to test the association between DRD5 and ADHD. Methods：106 Korean children with ADHD and their parents were analyzed using the transmission disequilibrium test (TDT) and haplotype-based haplotype relative risk test (HHRR). And also the ADHD children were compared with 212 age and gender matched normal controls. Results：We found the evidence for an association of short alleles of DRD5 dinucleotide repeat polymorphism in both casecontrol and family based studyies. Additionally, we observed some evidence for biased transmission of allele 152 bp and 144 bp. Conclusion：Our results lend credence to the notion that the relationship between ADHD and DRD5 is complex. The number of cases and informative transmissions in our study were small, therefore it would be premature to make any conclusions concerning the role of DRD5 in ADHD. Further work is needed to support these findings.