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, John Nurnberger, E. S. Gershon

Research output: Contribution to journalArticle

6 Citations (Scopus)

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, Part B: Neuropsychiatric Genetics
Volume60
Issue number4
DOIs
StatePublished - 1995
Externally publishedYes

Fingerprint

Receptor, Melanocortin, Type 2
Chromosomes, Human, Pair 18
Adrenocorticotropic Hormone
Pedigree
Genes
Alleles
Polymerase Chain Reaction

Keywords

  • D18S53
  • linkage analysis
  • PCR-SSCP

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Adrenocorticotropin receptor/melanocortin receptor-2 maps within a reported susceptibility region for bipolar illness on chromosome 18. / Detera-Wadleigh, S. D.; Yoon, S. W.; Berrettini, W. H.; Goldin, L. R.; Turner, G.; Yoshikawa, T.; Rollins, D. Y.; Muniec, D.; Nurnberger, John; Gershon, E. S.

In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 60, No. 4, 1995, p. 317-321.

Research output: Contribution to journalArticle

Detera-Wadleigh, S. D. ; Yoon, S. W. ; Berrettini, W. H. ; Goldin, L. R. ; Turner, G. ; Yoshikawa, T. ; Rollins, D. Y. ; Muniec, D. ; Nurnberger, John ; Gershon, E. S. / Adrenocorticotropin receptor/melanocortin receptor-2 maps within a reported susceptibility region for bipolar illness on chromosome 18. In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 1995 ; Vol. 60, No. 4. pp. 317-321.
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