A Possible Vulnerability Locus for Bipolar Affective Disorder
on Chromosome 21q22.3
R.E.Straub, T. Lehner, Y. Luo, J.E. Loth, W. Shao,
L. Sharpe, J.R. Alexander, K. Das, R. Simon, R.R. Fieve, B. Lerer,
J. Endicott, J. Ott, T.C. Gilliam, M. Baron
Nature Genetics , 8(3), 291--296 (1994 Nov)
Abstract
In a preliminary genome scan of 47 bipolar disorder families, we
detected in one family a lod score of 3.41 at the PFKL locus on
chromosome 21q22.3. The lod score is robust to marker allele
frequencies, phenocopy rates and age-dependent penetrance, and
remains strongly positive with changes in affection status.
Fourteen other markers in 21q22.3 were tested on this family,
with largely positive lod scores. Five of the other 46 families also
show positive, but modest lod scores with PFKL. When all 47
families are analysed together, there is little support for
linkage to PFKL under homogeneity or heterogeneity using lod
score analysis, but the model-free affected-pedigree-member
method yields statistically significant results (p<0.0003).
Our results are consistent with the presence of a gene in
21q22.3 predisposing at least one family to bipolar disorder.
