Badania asocjacyjne, badania rodzin i sekwencjonowanie DNA polimorfizmu genu transportera dopaminy DAT 1 w zespole zależności alkoholowej             443-452
Psychiatr Pol 2008;42(3):443–452
Aim. The paper focuses on candidate gene polymorphism and on the role of dopamine transporter gene polymorphism DAT 1 in the pathogenesis of alcoholism. We investigated this polymorphism in the association study in a whole group of alcoholics (n=150), fathers (n=84) and mothers (n=101) and patients with alcohol dependence (n=103). The control group consisted of healthy volunteers with excluded psychiatric disorders, gender and age matched (n=183). The transmission disequilibrium test (TDT) was used in the study. At the last stage of the study we screened the DNA sequence and compared 9 VNTR and 10 VNTR. Method. The history of alcoholism was obtained using the SSAGA (Semi-Structured Assessment for the Genetics of Alcoholism - Polish version). The DAT 1 polymorphism was determined using PCR. Screening for DNA sequence variation in the dopamine transporter gene polymorphism DAT 1 was determined using ABI 310. Results. We did not find significant differences in the case-controlled study. The alleles and genotypes distribution of the investigated polymorphism did not differ significantly between the alcoholics and the controls in the case-control study. We found significant differences in allele transmission in our patient group (n=77) 10 VNTR 63% and 9 VNTR 37% (p=0.033), from mothers to proband (p=0.049) and a statistical trend to frequent 10 VNTR allele transmission from the fathers (p=0.071). Screening for DNA sequence variation in the dopamine transporter gene polymorphism DAT 1 showed the number 9 repeat in 9 VNTR as missing. Conclusion. The results of this study suggest that DAT 1 gene polymorphism plays a role in alcohol dependence.