@article{2bf04be4e33e43f78de396c991711fd6,
title = "Linkage of bipolar affective disorder to chromosome 18 markers in a new pedigree series",
abstract = "Several groups have reported evidence suggesting linkage of bipolar affective disorder (BPAD) to chromosome 18. We have reported data from 28 pedigrees that showed linkage to marker loci on 18p and to loci 40 cM distant on 18q. Most of the linkage evidence derived from families with affected phenotypes in only the paternal lineage and from marker alleles transmitted on the paternal chromosome. We now report results from a series of 30 new pedigrees (259 individuals) genotyped for 13 polymorphic markers spanning chromosome 18. Subjects were interviewed by a psychiatrist and were diagnosed by highly reliable methods. Genotypes were generated with automated technology and were scored blind to phenotype. Affected sib pairs showed excess allele sharing at the 18q markers D18S541 and D18S38. A parent-of- origin effect was observed, but it was not consistently paternal. No robust evidence of linkage was detected for markers elsewhere on chromosome 18. Multipoint nonparametric linkage analysis in the new sample combined with the original sample of families supports linkage on chromosome 18q, but the susceptibility gene is not well localized.",
author = "McMahon, {Francis J.} and Hopkins, {Penelope J.} and Jianfeng Xu and McInnis, {Melvin G.} and Sarah Shaw and Lon Cardon and Simpson, {Sylvia G.} and MacKinnon, {Dean F.} and Stine, {O. Colin} and Robin Sherrington and Meyers, {Deborah A.} and DePaulo, {J. Raymond}",
note = "Funding Information: This work was supported by grants from the Charles A. Dana Foundation Consortium on the Genetic Basis of Manic Depressive Illness, the National Institutes of Mental Health, the National Alliance for Research on Schizophrenia and Depression, and contributors to the Affective Disorders Fund and the George Browne Laboratory Fund at Johns Hopkins. Some of the results are based on the program package SAGE, which is supported by a U.S. Public Health Service Resource Grant from the Division of Research Resources. We thank David Botstein, Susan Folstein, Kay R. Jamison, Rebecca Koskela, Thomas G. Marr, and James Watson for their contributions to the planning of this study and for helpful criticism and encouragement. We thank the many research assistants, technicians, secretaries, and medical students who have contributed their energies to this study. We also thank the clinicians who referred families for study and the family volunteers, without whose collaboration this research would not have been possible.",
year = "1997",
month = dec,
doi = "10.1086/301630",
language = "English (US)",
volume = "61",
pages = "1397--1404",
journal = "American journal of human genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "6",
}