Genomic survey of bipolar illness in the NIMH genetics initiative pedigrees: A preliminary report

John I. Nurnberger, J. Raymond DePaulo, Elliot S. Gershon, Theodore Reich, Mary C. Blehar, Howard J. Edenberg, Tatiana Foroud, Marvin Miller, Elizabeth Bowman, Aimee Mayeda, N. Leela Rau, Carrie Smiley, P. Michael Conneally, Francis McMahon, Deborah Meyers, Sylvia Simpson, Melvin McInnis, O. Colin Stine, Sevilla Detera-Wadleigh, Lynn GoldinJuliet Guroff, Elizabeth Maxwell, Diane Kazuba, Pablo V. Gejman, Judith Badner, Alan Sanders, John Rice, Laura Bierut, Alison Goate

Research output: Contribution to journalArticlepeer-review

117 Scopus citations


Four sites collaborated with the NIMH to develop a resource for the genetic study of bipolar (BP) illness. Common methods of ascertainment and assessment were developed in 1989. A series of families with a bipolar I (BPI) proband and at least one BPI or schizo affective, bipolar type (SA/BP) first-degree relative has been studied. We now report initial data from a genomic survey with an average intermarker interval of 10 cM on 540 subjects from 97 families. This is the largest commonly ascertained and assessed linkage sample for bipolar illness reported to date; it includes 232 subjects with BPI, 32 SA/BP, 72 bipolar II (BPII), and 88 unipolar, recurrent (UPR). Nonparametric methods of analysis were employed, with all sites using affected sib pair analysis. The strongest findings thus far appear to be on chromosomes 1, 6, 7, 10, 16, and 22. Support has also been found for some previously reported linkages, including 21q and possibly Xq26. All these areas (as well as others) will be followed up with additional markers and further analyses. No locus tested thus far meets stringent criteria for an initial finding of significant linkage.

Original languageEnglish
Pages (from-to)227-237
Number of pages11
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number3
StatePublished - 1997
Externally publishedYes


  • Bipolar affective disorder
  • Genetics
  • Genomic survey
  • Linkage
  • Nonparametric analysis


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