Adrenocorticotropin receptor/melanocortin receptor-2 maps within a reported susceptibility region for bipolar illness on chromosome 18

S. D. Detera-Wadleigh, S. W. Yoon, W. H. Berrettini, L. R. Goldin, G. Turner, T. Yoshikawa, D. Y. Rollins, D. Muniec, J. I. Nurnberger, E. S. Gershon

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

We have examined the possible linkage of adrenocorticotropin receptor/melanocortin receptor-2 (ACTHR/MC-2) to a reported putative susceptibility locus for bipolar illness (BP) in 20 affected pedigrees. Initially, allelic variants of the gene were identified by polymerase chain reaction-single stranded conformation polymorphism (PCR-SSCP) and the gene was genetically mapped using both the Centre d'Etudes du Polymorphisme Humain (CEPH) pedigrees and the BP pedigrees used in this study. We found that the ACTHR/MC-2 gene maps between D18S53 and D18S66. These loci span a region of chromosome 18 which, in a previous study [Berrettini et al.: Proc Natl Acad Sci USA 91:5918-5921, 1994) revealed a putative predisposing locus to BP through nonparametric methods of linkage analysis. Linkage of ACTHR/MC-2 to BP was not demonstrable under parametric and nonparametric methods of analyses, although affected sib-pair (ASP) method revealed an increase in allele sharing among ill individuals, P = 0.023. Since this receptor is within a potential linkage region, ACTHR/MC-2 could be considered a candidate gene for BP.

Original languageEnglish (US)
Pages (from-to)317-321
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume60
Issue number4
DOIs
StatePublished - Aug 28 1995
Externally publishedYes

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Keywords

  • D18S53
  • PCR-SSCP
  • linkage analysis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

Cite this

Detera-Wadleigh, S. D., Yoon, S. W., Berrettini, W. H., Goldin, L. R., Turner, G., Yoshikawa, T., Rollins, D. Y., Muniec, D., Nurnberger, J. I., & Gershon, E. S. (1995). Adrenocorticotropin receptor/melanocortin receptor-2 maps within a reported susceptibility region for bipolar illness on chromosome 18. American Journal of Medical Genetics - Neuropsychiatric Genetics, 60(4), 317-321. https://doi.org/10.1002/ajmg.1320600411