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. 2010 May;167(5):574-9.
doi: 10.1176/appi.ajp.2009.09070973. Epub 2010 Apr 1.

Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder

Roy H Perlis  1 , Jordan W Smoller, Jayalakshmi Mysore, Mei Sun, Tammy Gillis, Shaun Purcell, Marcella Rietschel, Markus M Nöthen, Stephanie Witt, Wolfgang Maier, Dan V Iosifescu, Patrick Sullivan, A John Rush, Maurizio Fava, Hans Breiter, Marcy Macdonald, James Gusella
Affiliations

Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder

Roy H Perlis et al. Am J Psychiatry. 2010 May.

Abstract

Objective: Presymptomatic individuals with the Huntingtin (HTT) CAG expansion mutation that causes Huntington's disease may have higher levels of depressive symptoms than healthy comparison populations. However, the prevalence of HTT CAG repeat expansions among individuals diagnosed with major depressive disorder has not been established.

Method: This was a case-control genetic association study of HTT CAG allele size in two discovery cohorts of individuals with major depressive disorder and comparison subjects without major depression as well as a replication cohort of individuals with major depression and comparison subjects without major depression.

Results: CAG repeat lengths of 36 or greater were observed in six of 3,054 chromosomes from individuals with major depression, compared with none of 4,155 chromosomes from comparison subjects. In a third cohort, one expanded allele was observed among 1,202 chromosomes in the major depression group, compared with none of 2,678 chromosomes in comparison subjects. No clear pattern of clinical features was shared among individuals with the expanded repeats.

Conclusions: In clinical populations of individuals diagnosed with major depression, approximately 3 in 1,000 carried expanded HTT CAG alleles.

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Figures

FIGURE 1
FIGURE 1
Distribution of HTT Allele Length in 4,007 Healthy Comparison Subjects and 2,986 Patients With Major Depression
See this image and copyright information in PMC

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