Blum K, Noble E P, Sheridan P J, Montgomery A, Ritchie T, Ozkaragoz T, Fitch R J, Wood R, Finley O, Sadlack F
Department of Pharmacology, University of Texas Health Science Center, San Antonio 78284-7764.
Alcohol. 1993 Jan-Feb;10(1):59-67. doi: 10.1016/0741-8329(93)90054-r.
Previous studies have shown an association of the 3' Taq1 A1 allele of the D2 dopamine receptor (DRD2) gene with severe alcoholism. The recent demonstration of a new polymorphism located closer to the regulatory regions of this gene, permits an associational analysis of these 5' Taq1 B alleles with alcoholism and a comparison with the 3' Taq1 A alleles. Restriction fragment length polymorphism methodology was used to analyze a total of 133 blood samples of nonalcoholics, less severe alcoholics, and severe alcoholics. In white subjects (n = 115), no significant difference in the prevalence of the B1 allele is found between nonalcoholics (n = 30) and less severe alcoholics (n = 36). However, the prevalence of this allele is significantly higher in severe alcoholics (n = 49) when compared to either nonalcoholics (p = 0.008) or less severe alcoholics (p = 0.005). When Taq1 B and Taq1 A alleles of the DRD2 gene are compared in whites, the prevalence of the A1 allele is significantly higher than the B1 allele only in the severe alcoholic group. In conclusion, alleles in both the 5' and 3' region of the DRD2 gene associate with severe alcoholism. This suggests that the DRD2 gene may have an etiological role in some severe alcoholics.
先前的研究表明，D2多巴胺受体（DRD2）基因的3' Taq1 A1等位基因与严重酒精中毒有关。最近发现该基因调控区域附近存在一种新的多态性，这使得对这些5' Taq1 B等位基因与酒精中毒进行关联分析，并与3' Taq1 A等位基因进行比较成为可能。采用限制性片段长度多态性方法，对总共133份非酒精中毒者、轻度酒精中毒者和重度酒精中毒者的血样进行了分析。在白人受试者（n = 115）中，非酒精中毒者（n = 30）和轻度酒精中毒者（n = 36）之间B1等位基因的流行率没有显著差异。然而，与非酒精中毒者（p = 0.008）或轻度酒精中毒者（p = 0.005）相比，重度酒精中毒者（n = 49）中该等位基因的流行率显著更高。在白人中比较DRD2基因的Taq1 B和Taq1 A等位基因时，仅在重度酒精中毒组中，A1等位基因的流行率显著高于B1等位基因。总之，DRD2基因5'和3'区域的等位基因均与严重酒精中毒有关。这表明DRD2基因可能在某些重度酒精中毒者中具有病因学作用。
