Parsian A, Chakraverty S, Todd R D
Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.
Am J Med Genet. 1995 Jun 19;60(3):234-7. doi: 10.1002/ajmg.1320600313.
A variety of studies have reported possible genetic associations between bipolar affective disorder and different loci using relative risk (case-control) comparisons. An alternative approach is to construct a contrast group using parental alleles which were not transmitted to an affected individual [Falk and Rubinstein, 1987: Ann Hum Genet 51:227-233]. We have used both approaches to test for possible associations between alleles of the dopamine D3 receptor gene and bipolar affective disorder. For relative risk studies, the probands of multiple incidence bipolar affective disorder families have been compared to alcoholic and psychiatrically normal contrast groups. Nontransmitted allele approaches have used bipolar affective disorder and alcoholic probands in which both parents were available for genotyping. Using the BalI restriction enzyme site polymorphism of Lannfelt et al. [1992: Psychiatr Genet 2:249-256], we have found no differences in the allele or genotype frequencies for bipolar vs. alcoholic or psychiatrically normal controls. In contrast, we have found evidence for an increased frequency of allele 1 and allele 1 containing genotypes in transmitted alleles from bipolar families.
多项研究报告了使用相对风险（病例对照）比较方法，双相情感障碍与不同基因座之间可能存在的遗传关联。另一种方法是构建一个对照群体，该群体使用未传递给患病个体的亲本等位基因[Falk和Rubinstein，1987年：《人类遗传学杂志》51卷：227 - 233页]。我们采用了这两种方法来检验多巴胺D3受体基因的等位基因与双相情感障碍之间可能存在的关联。对于相对风险研究，已将多发性双相情感障碍家族的先证者与酗酒者和精神正常的对照群体进行了比较。未传递等位基因方法使用了双亲均可供基因分型的双相情感障碍和酗酒先证者。利用Lannfelt等人[1992年：《精神遗传学》2卷：249 - 256页]的BalI限制性酶切位点多态性，我们发现双相情感障碍患者与酗酒者或精神正常对照组之间在等位基因或基因型频率上没有差异。相比之下，我们发现有证据表明双相情感障碍家族中传递的等位基因中，等位基因1和含有等位基因1的基因型频率有所增加。
