BIPOLAR DISORDER AND THE PSEUDOAUTOSOMAL REGION - AN ASSOCIATION STUDY

From family, adoption, and twin studies it is clear that genetic facto rs play an important role in the etiology of bipolar disorder (McGuffi n and Katz: The Biology of Depression, Gaskell, London, 1986). Recentl y Yoneda et al. (Am J Hum Genet 51:1172-1173, 1992) reported an associ ation between an allele (A4) of a VNTR marker (DXYS20) for the pseudoa utosomal region and bipolar disorder in a Japanese population. In orde r to test for this association in a Caucasian population, we have type d a sample of 52 subjects with bipolar disorder and 61 normal controls . The bipolar subjects are probands of multiple incidence families. Th e normal controls are an epidemiologically ascertained sample of middl e-aged, unrelated individuals. The two groups were matched for sex and ethnic background. There were no significant differences in the allel e or genotype frequencies of DXYS20 between the two groups. In particu lar, there was no significant difference in the frequency of the A4 al lele in normal controls and bipolar patients (0.377 vs. 0.317, respect ively). The prevalence of the A4 allele in bipolar patients and normal controls was 0.567 and 0.622, respectively. We were not able to repli cate the results of the Yoneda et al. (1992) study. (C) 1994 Wiley-Lis s, Inc.