Document Detail


Platelet monoamine oxidase (MAO) activity: evidence for a single major locus.
MedLine Citation:
PMID:  6695924     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Monoamine oxidase (MAO), a mitochondrial enzyme involved in the degradation of biogenic amines, has been associated with psychiatric morbidity. Although twin and family studies have indicated that MAO activity is familial, the exact mode of transmission is unclear. We performed segregation analysis on 154 nuclear families containing 419 individuals using the mixed model, which allows for a single major locus with a polygenic background. We were able to reject a dominant and additive locus with or without a heritable background and a recessive locus without background. The acceptable models were: (1) a codominant model without background where the mean of the heterozygote distribution was 30% of the distance from the low to the high homozygote distributions, and (2) a recessive locus with heritable background. In both cases, the gene frequency for the high-MAO allele is approximately .25--at odds with suggestions that low-MAO represents a genetic marker for a disorder such as schizophrenia with a lifetime risk of only 0.85%. To ensure that results were not artifacts from a familial, skewed distribution, the data were also analyzed after power transformation. In addition, hypotheses were tested using both the joint and conditional likelihoods to examine for possible misspecification of the model with respect to intergenerational differences. Finally, we allowed for non-Mendelian transmission probabilities to provide another class of alternatives against which to test the hypothesis of a major locus. All these approaches provided additional confirmation for the presence of a major locus segregating within these families.
Authors:
J Rice; P McGuffin; L R Goldin; E G Shaskan; E S Gershon
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  36     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1984 Jan 
Date Detail:
Created Date:  1984-03-05     Completed Date:  1984-03-05     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  36-43     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Alleles*
Blood Platelets / enzymology*
Female
Gene Frequency
Genotype
Humans
Male
Models, Genetic*
Monoamine Oxidase / genetics*
Schizophrenia / enzymology,  genetics*
Grant Support
ID/Acronym/Agency:
AA-03539/AA/NIAAA NIH HHS; MH31302/MH/NIMH NIH HHS; MH37685/MH/NIMH NIH HHS
Chemical
Reg. No./Substance:
EC 1.4.3.4/Monoamine Oxidase
Comments/Corrections

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