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

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.

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.

The results of this study suggest that DAT 1 gene polymorphism plays a role in alcohol dependence.