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Article: Electrophysiological biomarkers and age characterize phenotypic heterogeneity among individuals with major depressive disorder.

Key, Alexandra P / Thornton-Wells, Tricia A / Smith, Daniel G

2023 Volume 16, Page(s) 1055685

Abstract: Introduction: ...

Abstract	Introduction:
Language	English
Publishing date	2023-01-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2425477-0
ISSN	1662-5161
ISSN	1662-5161
DOI	10.3389/fnhum.2022.1055685
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Article: Genetic variation modifies risk for neurodegeneration based on biomarker status.

Hohman, Timothy J / Koran, Mary Ellen I / Thornton-Wells, Tricia A

Frontiers in aging neuroscience

2014 Volume 6, Page(s) 183

Abstract: Background: While a great deal of work has gone into understanding the relationship between Cerebrospinal fluid (CSF) biomarkers, brain atrophy, and disease progression, less work has attempted to investigate how genetic variation modifies these ... ...

Abstract	Background: While a great deal of work has gone into understanding the relationship between Cerebrospinal fluid (CSF) biomarkers, brain atrophy, and disease progression, less work has attempted to investigate how genetic variation modifies these relationships. The goal of this study was two-fold. First, we sought to identify high-risk vs. low-risk individuals based on their CSF tau and Aβ load and characterize these individuals with regard to brain atrophy in an AD-relevant region of interest. Next, we sought to identify genetic variants that modified the relationship between biomarker classification and neurodegeneration. Methods: Participants were categorized based on established cut-points for biomarker positivity. Mixed model regression was used to quantify longitudinal change in the left inferior lateral ventricle. Interaction analyses between single nucleotide polymorphisms (SNPs) and biomarker group status were performed using a genome wide association study (GWAS) approach. Correction for multiple comparisons was performed using the Bonferroni procedure. Results: One intergenic SNP (rs4866650) and one SNP within the SPTLC1 gene (rs7849530) modified the association between amyloid positivity and neurodegeneration. A transcript variant of WDR11-AS1 gene (rs12261764) modified the association between tau positivity and neurodegeneration. These effects were consistent across the two sub-datasets and explained approximately 3% of variance in ventricular dilation. One additional SNP (rs6887649) modified the association between amyloid positivity and baseline ventricular volume, but was not observed consistently across the sub-datasets. Conclusions: Genetic variation modifies the association between AD biomarkers and neurodegeneration. Genes that regulate the molecular response in the brain to oxidative stress may be particularly relevant to neural vulnerability to the damaging effects of amyloid-β.
Language	English
Publishing date	2014-08-04
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2558898-9
ISSN	1663-4365
ISSN	1663-4365
DOI	10.3389/fnagi.2014.00183
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Article ; Online: Genetic modification of the relationship between phosphorylated tau and neurodegeneration.

Hohman, Timothy J / Koran, Mary Ellen I / Thornton-Wells, Tricia A

Alzheimer's & dementia : the journal of the Alzheimer's Association

2014 Volume 10, Issue 6, Page(s) 637–645.e1

Abstract: Background: A subset of individuals present at autopsy with the pathologic features of Alzheimer's disease having never manifest the clinical symptoms. We sought to identify genetic factors that modify the relationship between phosphorylated tau (PTau) ... ...

Abstract	Background: A subset of individuals present at autopsy with the pathologic features of Alzheimer's disease having never manifest the clinical symptoms. We sought to identify genetic factors that modify the relationship between phosphorylated tau (PTau) and dilation of the lateral inferior ventricles. Methods: We used data from 700 subjects enrolled in the Alzheimer's Disease Neuroimaging Initiative (ADNI). A genome-wide association study approach was used to identify PTau × single nucleotide polymorphism (SNP) interactions. Variance explained by these interactions was quantified using hierarchical linear regression. Results: Five SNP × PTau interactions passed a Bonferroni correction, one of which (rs4728029, POT1, 2.6% of variance) was consistent across ADNI-1 and ADNI-2/GO subjects. This interaction also showed a trend-level association with memory performance and levels of interleukin-6 receptor. Conclusions: Our results suggest that rs4728029 modifies the relationship between PTau and both ventricular dilation and cognition, perhaps through an altered neuroinflammatory response.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/complications ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Apolipoproteins E/genetics ; Brain/pathology ; Cognition Disorders/etiology ; Cytokines/metabolism ; Female ; Genome-Wide Association Study ; Genotype ; Humans ; Lateral Ventricles/pathology ; Linear Models ; Magnetic Resonance Imaging ; Male ; Nerve Degeneration/etiology ; Polymorphism, Single Nucleotide/genetics ; tau Proteins/genetics ; tau Proteins/metabolism
Chemical Substances	Apolipoproteins E ; Cytokines ; tau Proteins
Language	English
Publishing date	2014-03-20
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2211627-8
ISSN	1552-5279 ; 1552-5260
ISSN (online)	1552-5279
ISSN	1552-5260
DOI	10.1016/j.jalz.2013.12.022
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Article ; Online: Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography.

Koran, Mary Ellen I / Hohman, Timothy J / Thornton-Wells, Tricia A

Human genetics

2013 Volume 133, Issue 1, Page(s) 85–93

Abstract: Late-onset Alzheimer's disease (LOAD) is known to have a complex, oligogenic etiology, with considerable genetic heterogeneity. We investigated the influence of genetic interactions between genes in the Alzheimer's disease (AD) pathway on amyloid-beta ( ... ...

Abstract	Late-onset Alzheimer's disease (LOAD) is known to have a complex, oligogenic etiology, with considerable genetic heterogeneity. We investigated the influence of genetic interactions between genes in the Alzheimer's disease (AD) pathway on amyloid-beta (Aβ) deposition as measured by PiB or AV-45 ligand positron emission tomography (PET) to aid in understanding LOAD's genetic etiology. Subsets of the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohorts were used for discovery and for two independent validation analyses. A significant interaction between RYR3 and CACNA1C was confirmed in all three of the independent ADNI datasets. Both genes encode calcium channels expressed in the brain. The results shown here support previous animal studies implicating interactions between these calcium channels in amyloidogenesis and suggest that the pathological cascade of this disease may be modified by interactions in the amyloid-calcium axis. Future work focusing on the mechanisms of such relationships may inform targets for clinical intervention.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Amyloid beta-Peptides/metabolism ; Apolipoprotein E4/genetics ; Apolipoprotein E4/metabolism ; Brain/metabolism ; Brain/pathology ; Calcium Channels, L-Type/genetics ; Calcium Channels, L-Type/metabolism ; Chromosome Mapping ; Epistasis, Genetic ; Female ; Genotype ; Homeostasis ; Humans ; Male ; Polymorphism, Single Nucleotide ; Positron-Emission Tomography ; Reproducibility of Results ; Ryanodine Receptor Calcium Release Channel/genetics ; Ryanodine Receptor Calcium Release Channel/metabolism
Chemical Substances	Amyloid beta-Peptides ; Apolipoprotein E4 ; CACNA1C protein, human ; Calcium Channels, L-Type ; Ryanodine Receptor Calcium Release Channel
Language	English
Publishing date	2013-09-12
Publishing country	Germany
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-013-1354-8
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Article ; Online: Interactions between GSK3β and amyloid genes explain variance in amyloid burden.

Hohman, Timothy J / Koran, Mary Ellen I / Thornton-Wells, Tricia A

Neurobiology of aging

2013 Volume 35, Issue 3, Page(s) 460–465

Abstract: The driving theoretical framework of Alzheimer's disease (AD) has been built around the amyloid-β (Aβ) cascade in which amyloid pathology precedes and drives tau pathology. Other evidence has suggested that tau and amyloid pathology may arise ... ...

Abstract	The driving theoretical framework of Alzheimer's disease (AD) has been built around the amyloid-β (Aβ) cascade in which amyloid pathology precedes and drives tau pathology. Other evidence has suggested that tau and amyloid pathology may arise independently. Both lines of research suggest that there may be epistatic relationships between genes involved in amyloid and tau pathophysiology. In the current study, we hypothesized that genes coding glycogen synthase kinase 3 (GSK-3) and comparable tau kinases would modify genetic risk for amyloid plaque pathology. Quantitative amyloid positron emission tomography data from the Alzheimer's Disease Neuroimaging Initiative served as the quantitative outcome in regression analyses, covarying for age, gender, and diagnosis. Three interactions reached statistical significance, all involving the GSK3β single nucleotide polymorphism rs334543-2 with APBB2 (rs2585590, rs3098914) and 1 with APP (rs457581). These interactions explained 1.2%, 1.5%, and 1.5% of the variance in amyloid deposition respectively. Our results add to a growing literature on the role of GSK-3 activity in amyloid processing and suggest that combined variation in GSK3β and APP-related genes may result in increased amyloid burden.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Alzheimer Disease/pathology ; Amyloid beta-Peptides/genetics ; Amyloid beta-Peptides/metabolism ; Female ; Gene Expression Regulation ; Glycogen Synthase Kinase 3/genetics ; Glycogen Synthase Kinase 3/physiology ; Glycogen Synthase Kinase 3 beta ; Humans ; Linear Models ; Male ; Middle Aged ; Plaque, Amyloid/genetics ; Plaque, Amyloid/metabolism ; Plaque, Amyloid/pathology ; Polymorphism, Single Nucleotide ; Risk ; tau Proteins/metabolism
Chemical Substances	Amyloid beta-Peptides ; tau Proteins ; GSK3B protein, human (EC 2.7.11.1) ; Glycogen Synthase Kinase 3 beta (EC 2.7.11.1) ; Glycogen Synthase Kinase 3 (EC 2.7.11.26) ; tau-protein kinase (EC 2.7.11.26)
Language	English
Publishing date	2013-10-08
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	604505-4
ISSN	1558-1497 ; 0197-4580
ISSN (online)	1558-1497
ISSN	0197-4580
DOI	10.1016/j.neurobiolaging.2013.08.032
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Article ; Online: Resting-State Functional Connectivity in Individuals with Down Syndrome and Williams Syndrome Compared with Typically Developing Controls.

Vega, Jennifer N / Hohman, Timothy J / Pryweller, Jennifer R / Dykens, Elisabeth M / Thornton-Wells, Tricia A

Brain connectivity

2015 Volume 5, Issue 8, Page(s) 461–475

Abstract: The emergence of resting-state functional connectivity (rsFC) analysis, which examines temporal correlations of low-frequency (<0.1 Hz) blood oxygen level-dependent signal fluctuations between brain regions, has dramatically improved our understanding of ...

Abstract	The emergence of resting-state functional connectivity (rsFC) analysis, which examines temporal correlations of low-frequency (<0.1 Hz) blood oxygen level-dependent signal fluctuations between brain regions, has dramatically improved our understanding of the functional architecture of the typically developing (TD) human brain. This study examined rsFC in Down syndrome (DS) compared with another neurodevelopmental disorder, Williams syndrome (WS), and TD. Ten subjects with DS, 18 subjects with WS, and 40 subjects with TD each participated in a 3-Tesla MRI scan. We tested for group differences (DS vs. TD, DS vs. WS, and WS vs. TD) in between- and within-network rsFC connectivity for seven functional networks. For the DS group, we also examined associations between rsFC and other cognitive and genetic risk factors. In DS compared with TD, we observed higher levels of between-network connectivity in 6 out 21 network pairs but no differences in within-network connectivity. Participants with WS showed lower levels of within-network connectivity and no significant differences in between-network connectivity relative to DS. Finally, our comparison between WS and TD controls revealed lower within-network connectivity in multiple networks and higher between-network connectivity in one network pair relative to TD controls. While preliminary due to modest sample sizes, our findings suggest a global difference in between-network connectivity in individuals with neurodevelopmental disorders compared with controls and that such a difference is exacerbated across many brain regions in DS. However, this alteration in DS does not appear to extend to within-network connections, and therefore, the altered between-network connectivity must be interpreted within the framework of an intact intra-network pattern of activity. In contrast, WS shows markedly lower levels of within-network connectivity in the default mode network and somatomotor network relative to controls. These findings warrant further investigation using a task-based procedure that may help disentangle the relationship between brain function and cognitive performance across the spectrum of neurodevelopmental disorders.
MeSH term(s)	Adult ; Apolipoproteins E/genetics ; Apolipoproteins E/metabolism ; Attention/physiology ; Brain/physiopathology ; Case-Control Studies ; Comprehension/physiology ; Connectome/methods ; Down Syndrome/genetics ; Down Syndrome/metabolism ; Down Syndrome/physiopathology ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neural Pathways/physiopathology ; Williams Syndrome/genetics ; Williams Syndrome/metabolism ; Williams Syndrome/physiopathology ; Young Adult
Chemical Substances	Apolipoproteins E
Language	English
Publishing date	2015-04-28
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2609017-X
ISSN	2158-0022 ; 2158-0014
ISSN (online)	2158-0022
ISSN	2158-0014
DOI	10.1089/brain.2014.0266
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Article ; Online: Regional brain differences in cortical thickness, surface area and subcortical volume in individuals with Williams syndrome.

Meda, Shashwath A / Pryweller, Jennifer R / Thornton-Wells, Tricia A

PloS one

2012 Volume 7, Issue 2, Page(s) e31913

Abstract: Williams syndrome (WS) is a rare genetic neurodevelopmental disorder characterized by increased non-social anxiety, sensitivity to sounds and hypersociability. Previous studies have reported contradictory findings with regard to regional brain variation ... ...

Abstract	Williams syndrome (WS) is a rare genetic neurodevelopmental disorder characterized by increased non-social anxiety, sensitivity to sounds and hypersociability. Previous studies have reported contradictory findings with regard to regional brain variation in WS, relying on only one type of morphological measure (usually volume) in each study. The present study aims to contribute to this body of literature and perhaps elucidate some of these discrepancies by examining concurrent measures of cortical thickness, surface area and subcortical volume between WS subjects and typically-developing (TD) controls. High resolution MRI scans were obtained on 31 WS subjects and 50 typically developing control subjects. We derived quantitative regional estimates of cortical thickness, cortical surface area, and subcortical volume using FreeSurfer software. We evaluated between-group ROI differences while controlling for total intracranial volume. In post-hoc exploratory analyses within the WS group, we tested for correlations between regional brain variation and Beck Anxiety Inventory scores. Consistent with our hypothesis, we detected complex patterns of between-group cortical variation, which included lower surface area in combination with greater thickness in the following cortical regions: post central gyrus, cuneus, lateral orbitofrontal cortex and lingual gyrus. Additional cortical regions showed between-group differences in one (but not both) morphological measures. Subcortical volume was lower in the basal ganglia and the hippocampus in WS versus TD controls. Exploratory correlations revealed that anxiety scores were negatively correlated with gray matter surface area in insula, OFC, rostral middle frontal, superior temporal and lingual gyrus. Our results were consistent with previous reports showing structural alterations in regions supporting the socio-affective and visuospatial impairments in WS. However, we also were able to effectively capture novel and complex patterns of cortical differences using both surface area and thickness. In addition, correlation results implicate specific brain regions in levels of anxiety in WS, consistent with previous reports investigating general anxiety disorders in the general population.
MeSH term(s)	Adult ; Brain Mapping ; Case-Control Studies ; Cerebral Cortex/pathology ; Female ; Humans ; Image Processing, Computer-Assisted ; Magnetic Resonance Imaging ; Male ; Organ Size ; Williams Syndrome/pathology
Language	English
Publishing date	2012-02-15
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0031913
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Article: Neural correlates of amusia in williams syndrome.

Lense, Miriam D / Dankner, Nathan / Pryweller, Jennifer R / Thornton-Wells, Tricia A / Dykens, Elisabeth M

Brain sciences

2014 Volume 4, Issue 4, Page(s) 594–612

Abstract: Congenital amusia is defined by marked deficits in pitch perception and production. Though historically examined only in otherwise typically developing (TD) populations, amusia has recently been documented in Williams syndrome (WS), a genetic, ... ...

Abstract	Congenital amusia is defined by marked deficits in pitch perception and production. Though historically examined only in otherwise typically developing (TD) populations, amusia has recently been documented in Williams syndrome (WS), a genetic, neurodevelopmental disorder with a unique auditory phenotype including auditory sensitivities and increased emotional responsiveness to music but variable musical skill. The current study used structural T1-weighted magnetic resonance imaging and diffusion tensor imaging to examine neural correlates of amusia in 17 individuals with WS (4 of whom met criteria for amusia). Consistent with findings from TD amusics, amusia in WS was associated with decreased fractional anisotropy (FA) in the right superior longitudinal fasciculus (SLF). The relationship between amusia and FA in the inferior component of the SLF was particularly robust, withstanding corrections for cognitive functioning, auditory sensitivities, or musical training. Though the number of individuals with amusia in the study is small, results add to evidence for the role of fronto-temporal disconnectivity in congenital amusia and suggest that novel populations with developmental differences can provide a window into understanding gene-brain-behavior relationships that underlie musical behaviors.
Language	English
Publishing date	2014-11-21
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2651993-8
ISSN	2076-3425
ISSN	2076-3425
DOI	10.3390/brainsci4040594
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Article ; Online: Iron-regulatory genes are associated with Neuroimaging measures in HIV infection.

Fennema-Notestine, Christine / Thornton-Wells, Tricia A / Hulgan, Todd / Letendre, Scott / Ellis, Ronald J / Franklin, Donald R / Anderson, Albert M / Heaton, Robert K / Bloss, Cinnamon S / Grant, Igor / Kallianpur, Asha R

Brain imaging and behavior

2019 Volume 14, Issue 5, Page(s) 2037–2049

Abstract: The pathogenesis of HIV-associated neurocognitive impairment (NCI) may involve iron dysregulation. In 243 HIV-seropositive adults without severe comorbidities, we therefore genotyped 250 variants in 20 iron-related genes and evaluated their associations ... ...

Abstract	The pathogenesis of HIV-associated neurocognitive impairment (NCI) may involve iron dysregulation. In 243 HIV-seropositive adults without severe comorbidities, we therefore genotyped 250 variants in 20 iron-related genes and evaluated their associations with magnetic resonance imaging measures of brain structure and metabolites, including measures previously linked to NCI. Multivariable regression analyses examined associations between genetic variants and neuroimaging measures, adjusting for relevant covariates and multiple testing. Exploratory analyses stratified by NCI (Global Deficit Score ≥ 0.5 vs. <0.5), virus detectability in plasma, and comorbidity levels were also performed. Of 27 variants (in 12 iron-regulatory genes) associated with neuroimaging measures after correction for the 37 haplotype blocks represented, 3 variants survived additional correction for the 21 neuroimaging measures evaluated and demonstrated biologically plausible associations. SLC11A1 rs7576974_T was significantly associated with higher frontal gray matter N-acetylaspartate (p = 3.62e
MeSH term(s)	AIDS Dementia Complex/diagnostic imaging ; AIDS Dementia Complex/genetics ; Adult ; Brain/diagnostic imaging ; Female ; Genes, Regulator ; HIV Infections/diagnostic imaging ; HIV Infections/genetics ; Humans ; Iron/metabolism ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neuroimaging
Chemical Substances	Iron (E1UOL152H7)
Language	English
Publishing date	2019-07-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	2377165-3
ISSN	1931-7565 ; 1931-7557
ISSN (online)	1931-7565
ISSN	1931-7557
DOI	10.1007/s11682-019-00153-0
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Article ; Online: Genetic interactions within inositol-related pathways are associated with longitudinal changes in ventricle size.

Koran, Mary Ellen I / Hohman, Timothy J / Meda, Shashwath A / Thornton-Wells, Tricia A

Journal of Alzheimer's disease : JAD

2013 Volume 38, Issue 1, Page(s) 145–154

Abstract: The genetic etiology of late-onset Alzheimer's disease (LOAD) has proven complex, involving clinical and genetic heterogeneity and gene-gene interactions. Recent genome wide association studies in LOAD have led to the discovery of novel genetic risk ... ...

Abstract	The genetic etiology of late-onset Alzheimer's disease (LOAD) has proven complex, involving clinical and genetic heterogeneity and gene-gene interactions. Recent genome wide association studies in LOAD have led to the discovery of novel genetic risk factors; however, the investigation of gene-gene interactions has been limited. Conventional genetic studies often use binary disease status as the primary phenotype, but for complex brain-based diseases, neuroimaging data can serve as quantitative endophenotypes that correlate with disease status and closely reflect pathological changes. In the Alzheimer's Disease Neuroimaging Initiative cohort, we tested for association of genetic interactions with longitudinal MRI measurements of the inferior lateral ventricles (ILVs), which have repeatedly shown a relationship to LOAD status and progression. We performed linear regression to evaluate the ability of pathway-derived SNP-SNP pairs to predict the slope of change in volume of the ILVs. After Bonferroni correction, we identified four significant interactions in the right ILV (RILV) corresponding to gene-gene pairs SYNJ2-PI4KA, PARD3-MYH2, PDE3A-ABHD12B, and OR2L13-PRKG1 and one significant interaction in the left ILV (LILV) corresponding to SYNJ2-PI4KA. The SNP-SNP interaction corresponding to SYNJ2-PI4KA was identical in the RILV and LILV and was the most significant interaction in each (RILV: p = 9.13 × 10(-12); LILV: p = 8.17 × 10(-13)). Both genes belong to the inositol phosphate signaling pathway which has been previously associated with neurodegeneration in AD and we discuss the possibility that perturbation of this pathway results in a down-regulation of the Akt cell survival pathway and, thereby, decreased neuronal survival, as reflected by increased volume of the ventricles.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Cognitive Dysfunction/genetics ; Cognitive Dysfunction/pathology ; Down-Regulation/genetics ; Enzymes/genetics ; Enzymes/metabolism ; Female ; Functional Laterality ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Inositol/genetics ; Inositol/metabolism ; Lateral Ventricles/pathology ; Longitudinal Studies ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; Signal Transduction/genetics
Chemical Substances	Enzymes ; Inositol (4L6452S749)
Language	English
Publishing date	2013-09-30
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-130989
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