[Case-control, family based and screening for DNA sequence variation in the dopamine transporter gene polymorphism DAT 1 in alcohol dependence].

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.