Identification of genetic variants associated with Huntington's disease progression: A genome-wide association study

Journal article


Hensman Moss, Davina J., Pardiñas, Antonio F., Langbehn, Douglas, Lo, Kitty, Leavitt, Blair R., Roos, Raymund, Durr, Alexandra, Mead, Simon, TRACK-HD investigators,, REGISTRY investigators,, Labuschagne, Izelle, TRACK-HD investigators and REGISTRY investigators. (2017). Identification of genetic variants associated with Huntington's disease progression: A genome-wide association study. The Lancet Neurology. 16(9), pp. 701 - 711. https://doi.org/10.1016/S1474-4422(17)30161-8
AuthorsHensman Moss, Davina J., Pardiñas, Antonio F., Langbehn, Douglas, Lo, Kitty, Leavitt, Blair R., Roos, Raymund, Durr, Alexandra, Mead, Simon, TRACK-HD investigators,, REGISTRY investigators,, Labuschagne, Izelle, TRACK-HD investigators and REGISTRY investigators
Abstract

Background: Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods: We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings: Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation: The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation. Funding: The European Commission FP7 NeurOmics project; CHDI Foundation; the Medical Research Council UK; the Brain Research Trust; and the Guarantors of Brain.

Year2017
JournalThe Lancet Neurology
Journal citation16 (9), pp. 701 - 711
PublisherLancet Publishing Group
ISSN1474-4422
Digital Object Identifier (DOI)https://doi.org/10.1016/S1474-4422(17)30161-8
Scopus EID2-s2.0-85020897879
Page range701 - 711
Publisher's version
File Access Level
Controlled
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Please refer to the journal article webpage for a complete list of the TRACK-HD and REGISTRY investigators.

Place of publicationUnited Kingdom
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Rossell, Susan L., Labuschagne, Izelle, Dunai, Judith, Kyrios, Michael and Castle, David. (2014). Using theories of delusion formation to explain abnormal beliefs in Body Dysmorphic Disorder (BDD). Psychiatry Research. 215(3), pp. 599 - 605. https://doi.org/10.1016/j.psychres.2013.12.030
The potential of composite cognitive scores for tracking progression in Huntington's disease.
Jones, Rebecca D., Stout, Julie C., Labuschagne, Izelle, Say, Miranda Julia, Justo, Damian, Coleman, Allison J., Dumas, Eve M., Hart, Ellen P., Owen, Gail N., Durr, Alexandra, Leavitt, Blair R., Roos, Raymund A. C., O'Regan, Alison M., Langbehn, Doug R., Tabrizi, Sarah J. and Frost, Chris D.. (2014). The potential of composite cognitive scores for tracking progression in Huntington's disease. Journal of Huntington's Disease. 3(2), pp. 197 - 207. https://doi.org/10.3233/JHD-140101
The cognitive burden in Huntington's disease: Pathology, phenotype and mechanisms of compensation
Papoutsi, Marina, Labuschagne, Izelle, Tabrizi, Sarah J. and Stout, Julie C.. (2014). The cognitive burden in Huntington's disease: Pathology, phenotype and mechanisms of compensation. Movement Disorders Society. 29(5), pp. 673 - 683. https://doi.org/10.1002/mds.25864
A comparison of executive function in Body Dysmorphic Disorder (BDD) and Obsessive-Compulsive Disorder (OCD)
Labuschagne, Izelle, Rossell, Susan, Dunai, Judith, Castle, David and Kyrios, Michael. (2013). A comparison of executive function in Body Dysmorphic Disorder (BDD) and Obsessive-Compulsive Disorder (OCD). Journal of Obsessive-Compulsive and Related Disorders. 2(3), pp. 257 - 262. https://doi.org/10.1016/j.jocrd.2013.05.003
Oxytocin enhances resting-state connectivity between amygdala and medial frontal cortex
Sripada, Chandra, Phan, Kinhluan, Labuschagne, Izelle, Welsh, Robert, Nathan, Pradeep and Wood, Amanda. (2013). Oxytocin enhances resting-state connectivity between amygdala and medial frontal cortex. International Journal of Neuropsychopharmacology (print). 16(2), pp. 255 - 260. https://doi.org/10.1017/S1461145712000533
Emotional face recognition deficits and medication effects in pre-manifest through stage-II Huntington's disease
Labuschagne, Izelle, Jones, Rebecca, Callaghan, Jenny, Whitehead, Daisy, Dumas, Eve, Say, Miranda, Hart, Ellen, Justo, Damian, Coleman, Allison, Dar Santos, Rachelle, Frost, Chris, Craufurd, David, Trabrizi, Sarah and Stout, Julie. (2013). Emotional face recognition deficits and medication effects in pre-manifest through stage-II Huntington's disease. Psychiatry Research. 207(1-2), pp. 118 - 126. https://doi.org/10.1016/j.psychres.2012.09.022
Emotional face recognition deficits and medication effects in pre-manifest through stage-II Huntington's disease
Labuschagne, Izelle, Jones, Rebecca, Callaghan, Jenny, Whitehead, Daisy, Dumas, Eve, Say, Miranda, Hart, Ellen, Justo, Damian, Coleman, Allison, Dar Santos, Rachelle, Frost, Chris, Craufurd, David, Tabrizi, Sarah and Stout, Julie. (2013). Emotional face recognition deficits and medication effects in pre-manifest through stage-II Huntington's disease. Psychiatry Research. 207(1-2), pp. 118 - 126. https://doi.org/10.1016/j.psychres.2012.09.022
Oxytocin enhances resting-state connectivity between amygdala and medial frontal cortex
Sripada, Chandra, Phan, Kinhluan, Labuschagne, Izelle, Welsh, Robert, Nathan, Pradeep and Wood, Amanda. (2013). Oxytocin enhances resting-state connectivity between amygdala and medial frontal cortex. International Journal of Neuropsychopharmacology. 16(2), pp. 255 - 260. https://doi.org/10.1017/S1461145712000533
Visual working memory impairment in premanifest gene-carriers and early Huntington's Disease
Dumas, Eve M., Say, Miranda Julia, Jones, Rebecca D., Labuschagne, Izelle, O'Regan, Alison M., Hart, Ellen P., van den Bogaard, Simon J. A., Queller, Sarah, Justo, Damian, Coleman, Allison J., dar Santos, Rachelle C., Durr, Alexandra, Leavitt, Blair R., Tabrizi, Sarah J., Roos, Raymund A. C. and Stout, Julie C.. (2012). Visual working memory impairment in premanifest gene-carriers and early Huntington's Disease. Journal of Huntington's Disease. 1(1), pp. 97 - 106. https://doi.org/10.3233/JHD-2012-120010
Evaluation of longitudinal 12 and 24 month cognitive outcomes in premanifest and early Huntington's disease
Stout, Julie, Jones, Rebecca, Labuschagne, Izelle, O'Regan, Alison, Say, Miranda, Dumas, Eve, Queller, Sarah, Justo, Damian, Dar Santos, Rachelle, Coleman, Allison, Hart, Ellen, Durr, Alexandra, Leavitt, Blair, Roos, Raymund, Langbehn, Doug, Tabrizi, Sarah J. and Frost, Chris. (2012). Evaluation of longitudinal 12 and 24 month cognitive outcomes in premanifest and early Huntington's disease. Journal of Neurology, Neurosurgery and Psychiatry. 83(7), pp. 687 - 694. https://doi.org/10.1136/jnnp-2011-301940
Medial frontal hyperactivity to sad faces in generalized social anxiety disorder and modulation by oxytocin
Labuschagne, Izelle, Phan, K. Luan, Wood, Amanda, Angstadt, Mike, Chua, Phyllis, Heinrichs, Markus, Stout, Julie C., Nathan, Pradeep J. and Pradeep,. (2012). Medial frontal hyperactivity to sad faces in generalized social anxiety disorder and modulation by oxytocin. International Journal of Neuropsychopharmacology (print). 15(7), pp. 883 - 896. https://doi.org/10.1017/S1461145711001489
Evaluation of longitudinal 12 and 24 month cognitive outcomes in premanifest and early Huntington's disease
Stout, Julie, Jones, Rebecca, Labuschagne, Izelle, O'Regan, Alison, Say, Miranda, Dumas, Eve, Queller, Sarah, Justo, Damian, Dar Santos, Rachelle, Coleman, Allison, Hart, Ellen, Durr, Alexandra, Leavitt, Blair, Roos, Raymund, Langbehn, Douglas, Tabrizi, Sarah J. and Frost, Chris. (2012). Evaluation of longitudinal 12 and 24 month cognitive outcomes in premanifest and early Huntington's disease. Journal of Neurology, Neurosurgery and Psychiatry. 83(7), pp. 687 - 694. https://doi.org/10.1136/jnnp-2011-301940
What the cognitive deficits in body dysmorphic disorder tell us about the underlying neurobiology: An investigation of three cases
Labuschagne, Izelle, Castle, David and Rossell, Susan L.. (2011). What the cognitive deficits in body dysmorphic disorder tell us about the underlying neurobiology: An investigation of three cases. International Journal of Cognitive Therapy. 4(1), pp. 21 - 33. https://doi.org/10.1521/ijct.2011.4.1.21
Oxytocin attenuates amygdala reactivity to fear in generalized social anxiety disorder
Labuschagne, Izelle, Phan, K. Luan, Wood, Amanda G., Angstadt, Mike, Chua, Phyllis, Heinrichs, Markus, Stout, Julie C. and Nathan, Pradeep. (2010). Oxytocin attenuates amygdala reactivity to fear in generalized social anxiety disorder. Neuropsychopharmacology. 35(12), pp. 2403 - 2413. https://doi.org/10.1038/npp.2010.123
Augmenting serotonin neurotransmission with citalopram modulates emotional expression decoding but not structural encoding of moderate intensity sad facial emotional stimuli: An event-related potential (ERP) investigation
Labuschagne, Izelle, Croft, Rodney, Phan, K. Luan and Nathan, Pradeep. (2010). Augmenting serotonin neurotransmission with citalopram modulates emotional expression decoding but not structural encoding of moderate intensity sad facial emotional stimuli: An event-related potential (ERP) investigation. Journal of Psychopharmacology. 24(8), pp. 1153 - 1164. https://doi.org/10.1177/0269881108097878
Executive function in body dysmorphic disorder
Dunai, Judith, Labuschagne, Izelle, Castle, David J., Kyrios, Michael and Rossell, Susan. (2010). Executive function in body dysmorphic disorder. Psychological Medicine. 40(9), pp. 1541 - 1548. https://doi.org/10.1017/S003329170999198X
An examination of delusional thinking and cognitive styles in body dysmorphic disorder
Labuschagne, Izelle, Castle, David J., Dunai, Judith, Kyrios, Michael and Rossell, Susan. (2010). An examination of delusional thinking and cognitive styles in body dysmorphic disorder. Australian and New Zealand Journal of Psychiatry. 44(8), pp. 706 - 712. https://doi.org/10.3109/00048671003671007
Evidence for modulation of facial emotional processing bias during emotional expression decoding by serotonergic and noradrenergic antidepressants: An event-related potential (ERP) study
Kerestes, Rebecca, Labuschagne, Izelle, Croft, Rodney, O'Neill, Barry, Bhagwagar, Zubin M., Phan, K Luan and Nathan, Pradeep. (2009). Evidence for modulation of facial emotional processing bias during emotional expression decoding by serotonergic and noradrenergic antidepressants: An event-related potential (ERP) study. Psychopharmacology. 202(4), pp. 621 - 634. https://doi.org/10.1007/s00213-008-1340-3