Genetic analysis of quantitative phenotypes in AD and MCI: imaging, cognition and biomarkers.

Abstract:

:The Genetics Core of the Alzheimer's Disease Neuroimaging Initiative (ADNI), formally established in 2009, aims to provide resources and facilitate research related to genetic predictors of multidimensional Alzheimer's disease (AD)-related phenotypes. Here, we provide a systematic review of genetic studies published between 2009 and 2012 where either ADNI APOE genotype or genome-wide association study (GWAS) data were used. We review and synthesize ADNI genetic associations with disease status or quantitative disease endophenotypes including structural and functional neuroimaging, fluid biomarker assays, and cognitive performance. We also discuss the diverse analytical strategies used in these studies, including univariate and multivariate analysis, meta-analysis, pathway analysis, and interaction and network analysis. Finally, we perform pathway and network enrichment analyses of these ADNI genetic associations to highlight key mechanisms that may drive disease onset and trajectory. Major ADNI findings included all the top 10 AD genes and several of these (e.g., APOE, BIN1, CLU, CR1, and PICALM) were corroborated by ADNI imaging, fluid and cognitive phenotypes. ADNI imaging genetics studies discovered novel findings (e.g., FRMD6) that were later replicated on different data sets. Several other genes (e.g., APOC1, FTO, GRIN2B, MAGI2, and TOMM40) were associated with multiple ADNI phenotypes, warranting further investigation on other data sets. The broad availability and wide scope of ADNI genetic and phenotypic data has advanced our understanding of the genetic basis of AD and has nominated novel targets for future studies employing next-generation sequencing and convergent multi-omics approaches, and for clinical drug and biomarker development.

journal_name

Brain Imaging Behav

authors

Shen L,Thompson PM,Potkin SG,Bertram L,Farrer LA,Foroud TM,Green RC,Hu X,Huentelman MJ,Kim S,Kauwe JS,Li Q,Liu E,Macciardi F,Moore JH,Munsie L,Nho K,Ramanan VK,Risacher SL,Stone DJ,Swaminathan S,Toga AW,Weiner

doi

10.1007/s11682-013-9262-z

subject

Has Abstract

pub_date

2014-06-01 00:00:00

pages

183-207

issue

2

eissn

1931-7557

issn

1931-7565

journal_volume

8

pub_type

杂志文章,评审
  • Altered segregation between task-positive and task-negative regions in mild traumatic brain injury.

    abstract::Changes in large-scale brain networks that accompany mild traumatic brain injury (mTBI) were investigated using functional magnetic resonance imaging (fMRI) during the N-back working memory task at two cognitive loads (1-back and 2-back). Thirty mTBI patients were examined during the chronic stage of injury and compar...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-017-9724-9

    authors: Sours C,Kinnison J,Padmala S,Gullapalli RP,Pessoa L

    更新日期:2018-06-01 00:00:00

  • Altered regional brain volumes in elderly carriers of a risk variant for drug abuse in the dopamine D2 receptor gene (DRD2).

    abstract::Dopamine D2 receptors mediate the rewarding effects of many drugs of abuse. In humans, several polymorphisms in DRD2, the gene encoding these receptors, increase our genetic risk for developing addictive disorders. Here, we examined one of the most frequently studied candidate variant for addiction in DRD2 for associa...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-014-9298-8

    authors: Roussotte FF,Jahanshad N,Hibar DP,Thompson PM,Alzheimer’s Disease Neuroimaging Initiative (ADNI).

    更新日期:2015-06-01 00:00:00

  • A preliminary report of cerebral white matter microstructural changes associated with adolescent sports concussion acutely and subacutely using diffusion tensor imaging.

    abstract::Diffusion tensor imaging (DTI) has demonstrated its utility in detecting microscopic post-concussion cerebral white matter structural changes, which are not routinely evident on conventional neuroimaging modalities. In this study, we compared 10 adolescents with sports concussion (SC) to 12 orthopedically-injured (OI)...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-017-9752-5

    authors: Wu T,Merkley TL,Wilde EA,Barnes A,Li X,Chu ZD,McCauley SR,Hunter JV,Levin HS

    更新日期:2018-08-01 00:00:00

  • Surface-based morphometry reveals caudate subnuclear structural damage in patients with premotor Huntington disease.

    abstract::In patients with premotor Huntington's disease (pmHD), literature has reported decreases in caudate volume. However, the regional vulnerability of the caudate nucleus to pmHD remains to be clarified. We aimed to determine whether regional structural damage of the caudate nucleus was present in pmHD and was correlated ...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-016-9616-4

    authors: Kim H,Kim JH,Possin KL,Winer J,Geschwind MD,Xu D,Hess CP

    更新日期:2017-10-01 00:00:00

  • Difference in regional neural fluctuations and functional connectivity in Crohn's disease: a resting-state functional MRI study.

    abstract::Patients with Crohn's disease (CD) are shown to have abnormal changes in brain structures. This study aimed to further investigate whether these patients have abnormal brain activities and network connectivity. Sixty patients with CD and 40 healthy controls (HCs) underwent resting-state functional magnetic resonance i...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-018-9850-z

    authors: Bao C,Liu P,Liu H,Jin X,Shi Y,Wu L,Zeng X,Zhang J,Wang D,Calhoun VD,Tian J,Wu H

    更新日期:2018-12-01 00:00:00

  • Socioeconomic status in children is associated with spontaneous activity in right superior temporal gyrus.

    abstract::Socioeconomic status (SES) during childhood is a well-documented life-course health determinant. Despite recent advances on characterizing brain structural variance associated with SES during development, how it influences brain's functional organization remains elusive. Associations between SES, an fMRI feature of re...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-019-00073-z

    authors: Biazoli CE Jr,Salum GA,Gadelha A,Rebello K,Moura LM,Pan PM,Brietzke E,Miguel EC,Rohde LA,Bressan RA,Jackowski AP,Sato JR

    更新日期:2020-08-01 00:00:00

  • Uncinate fasciculus microstructure and verbal episodic memory in amyotrophic lateral sclerosis: a diffusion tensor imaging and neuropsychological study.

    abstract::The present study evaluates the integrity of uncinate fasciculus (UF) and the association between UF microstructure and verbal episodic memory (as one of the cognitive functions linked to UF) in non-demented patients with amyotrophic lateral sclerosis (ALS) using diffusion tensor imaging (DTI). We studied 21 patients ...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-013-9271-y

    authors: Christidi F,Zalonis I,Kyriazi S,Rentzos M,Karavasilis E,Wilde EA,Evdokimidis I

    更新日期:2014-12-01 00:00:00

  • Effects of temporarily disrupting BBB on activity-induced manganese-dependent functional MRI.

    abstract::This study further investigates the influence of temporarily disrupting the blood-brain barrier (BBB) on the level of manganese used in AIM fMRI other than the recognized function of allowing that substance to enter into the activated brain regions more effectively during the BBB opening. We injected manganese into Wi...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-011-9122-7

    authors: Fa Z,Zhang R,Li P,Zhang J,Zhang P,Zhu S,Wu Q,Huang F,Liu Y,Yang L,Chang H,Wen Z,Gao D,Zeng Y,Jiang X

    更新日期:2011-09-01 00:00:00

  • Cortical sensitivity to contrast polarity and orientation of faces is modulated by temporal-nasal hemifield asymmetry.

    abstract::Behavioral studies demonstrate that the efficiency of detection of faces is dependent on configural and contrast polarity information characteristic to human faces. Stimulus inversion or contrast polarity reversal can disrupt this process. We investigated whether a face-sensitive event-related potential component, the...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-012-9147-6

    authors: Tomalski P,Johnson MH

    更新日期:2012-03-01 00:00:00

  • Plasma lipids are associated with white matter microstructural changes and axonal degeneration.

    abstract::Dislipidemia is a risk factor for cognitive impairment. We studied the association between interindividual variability of plasma lipids and white matter (WM) microstructure, using diffusion tensor imaging (DTI) in 273 healthy adults. Special focus was placed on 7 regions of interest (ROI) which are structural componen...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-020-00311-9

    authors: Iriondo A,García-Sebastian M,Arrospide A,Arriba M,Aurtenetxe S,Barandiaran M,Clerigue M,Ecay-Torres M,Estanga A,Gabilondo A,Izagirre A,Saldias J,Tainta M,Villanua J,Mar J,Goñi FM,Martínez-Lage P

    更新日期:2020-08-03 00:00:00

  • The dissociative subtype of posttraumatic stress disorder is associated with subcortical white matter network alterations.

    abstract::Posttraumatic stress disorder (PTSD) is characterized by intrusions, avoidance, and hyperarousal while patients of the dissociative subtype (PTSD-D) experience additional dissociative symptoms. A neurobiological model proposes hyper-inhibition of limbic structures mediated by prefrontal cortices to underlie dissociati...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-020-00274-x

    authors: Sierk A,Manthey A,Brakemeier EL,Walter H,Daniels JK

    更新日期:2020-04-27 00:00:00

  • Experimental trauma rapidly modifies functional connectivity.

    abstract::Traumatic events can produce emotional, cognitive and autonomous physical responses. This may ultimately lead to post-traumatic stress disorder (PTSD), a psychiatric syndrome which requires comprehensive treatment. Trauma exposure alters functional connectivity; however, onset and nature of these changes are unknown. ...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-020-00396-2

    authors: Gvozdanovic G,Seifritz E,Stämpfli P,Canna A,Rasch B,Esposito F

    更新日期:2020-09-28 00:00:00

  • Abnormal white matter tracts of insula in smokers.

    abstract::Nicotine addiction is characterized as a neural circuit dysfunction, particularly with regard to the alterations in central reward pathways. The insula, a cortical region that is thought to play a central role in this reward circuitry, has been implicated in the maintenance of nicotine addiction. However, it remains l...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-020-00389-1

    authors: Wang C,Wang S,Huang P,Shen Z,Qian W,Luo X,Li K,Zeng Q,Gu Q,Yu H,Yang Y,Zhang M

    更新日期:2020-09-24 00:00:00

  • Correction to: Interactive mapping of language and memory with the GE2REC protocol.

    abstract::The article Interactive mapping of language and memory with the GE2REC protocol, written by Sonja Banjac, Elise Roger, Emilie Cousin, Marcela Perrone-Bertolotti, Célise Haldin, Cédric Pichat, Laurent Lamalle, Lorella Minotti, Philippe Kahane, and Monica Baciu was originally published electronically on the publisher's ...

    journal_title:Brain imaging and behavior

    pub_type: 已发布勘误

    doi:10.1007/s11682-020-00403-6

    authors: Banjac S,Roger E,Cousin E,Perrone-Bertolotti M,Haldin C,Pichat C,Lamalle L,Minotti L,Kahane P,Baciu M

    更新日期:2020-10-01 00:00:00

  • Early effects of a high-caloric diet and physical exercise on brain volumetry and behavior: a combined MRI and histology study in mice.

    abstract::Excessive intake of high-caloric diets as well as subsequent development of obesity and diabetes mellitus may exert a wide range of unfavorable effects on the central nervous system (CNS) in the long-term. The potentially harmful effects of such diets were suggested to be mitigated by physical exercise. Here, we condu...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-016-9638-y

    authors: Sack M,Lenz JN,Jakovcevski M,Biedermann SV,Falfán-Melgoza C,Deussing J,Bielohuby M,Bidlingmaier M,Pfister F,Stalla GK,Sartorius A,Gass P,Weber-Fahr W,Fuss J,Auer MK

    更新日期:2017-10-01 00:00:00

  • Brain functional connectivity during storage based on resting state functional magnetic resonance imaging with synchronous urodynamic testing in healthy volunteers.

    abstract::The aim of the study was to elucidate the correlation between spatially distinct brain areas with a full bladder from the perspective of functional connectivity using resting-state functional magnetic resonance imaging (rs-fMRI) with simultaneous urodynamic testing in healthy volunteers. The brain regions with full an...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-020-00362-y

    authors: Zhao L,Liao L,Gao Y

    更新日期:2020-07-28 00:00:00

  • Executive functional deficits during electrical stimulation of the right frontal aslant tract.

    abstract::Direct electrical stimulation mapping was used to map executive functions during awake surgery of a patient with a right frontal low-grade glioma. We specifically targeted the frontal aslant tract, as this pathway had been infiltrated by the tumor. The right frontal aslant tract has been implicated in executive functi...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-020-00439-8

    authors: Rutten GM,Landers MJF,De Baene W,Meijerink T,van der Hek S,Verheul JHB

    更新日期:2021-01-19 00:00:00

  • Global white matter microstructural abnormalities associated with addiction liability score in drug naïve youth.

    abstract::Abnormalities in brain white matter (WM) structure have been reported in youths having a family history of substance use disorders (SUDs). It was hypothesized that these abnormalities constitute features of the liability for SUDs transmitted across generations. The association between severity of intergenerational ris...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-017-9679-x

    authors: Hulvershorn L,Hummer T,Wu YC,Tarter R,Rea P,Anand A,Andrew Chambers R,Finn P

    更新日期:2018-02-01 00:00:00

  • Repeated mild traumatic brain injuries is not associated with volumetric differences in former high school football players.

    abstract::We investigated potential brain volumetric differences in a sample of former high school football players many years after these injuries. Forty community-dwelling males ages 40-65 who played high school football, but not college or professional sports, were recruited. The experimental group (n = 20) endorsed experien...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-017-9719-6

    authors: Terry DP,Miller LS

    更新日期:2018-06-01 00:00:00

  • Patterns of white matter hyperintensities associated with cognition in middle-aged cognitively healthy individuals.

    abstract::White matter hyperintensities (WMH) are commonly detected in the brain of elderly individuals and have been associated with a negative impact on multiple cognitive domains. We aim to investigate the impact of global and regional distribution of WMH on episodic memory and executive function in middle-aged cognitively u...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-019-00151-2

    authors: Brugulat-Serrat A,Salvadó G,Sudre CH,Grau-Rivera O,Suárez-Calvet M,Falcon C,Sánchez-Benavides G,Gramunt N,Fauria K,Cardoso MJ,Barkhof F,Molinuevo JL,Gispert JD,ALFA Study.

    更新日期:2020-10-01 00:00:00

  • The relationship between dorsal stream connections to the caudate and verbal fluency in Parkinson disease.

    abstract::Performance in verbal fluency tasks are widely used as a marker of cognitive impairment in Parkinson disease. However, the anatomical substrate of its impairment remains undetermined. Based on the dual-stream language model, we hypothesized cortical input to the subcortical circuitry would be a crucial determinant of ...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-020-00407-2

    authors: Rodriguez-Porcel F,Wilmskoetter J,Cooper C,Taylor JA,Fridriksson J,Hickok G,Bonilha L

    更新日期:2020-10-12 00:00:00

  • Structural and functional neural correlates of self-reported attachment in healthy adults: evidence for an amygdalar involvement.

    abstract::The concept of attachment in long-term interpersonal relationships has been linked to relationship outcome and social-emotional health. To date, no relationship between the structural properties of the human amygdala and attachment in romantic relationships (measured through self-reported attachment related anxiety an...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-015-9446-9

    authors: Rigon A,Duff MC,Voss MW

    更新日期:2016-12-01 00:00:00

  • Test-retest reliability of high angular resolution diffusion imaging acquisition within medial temporal lobe connections assessed via tract based spatial statistics, probabilistic tractography and a novel graph theory metric.

    abstract::This study examined the reliability of high angular resolution diffusion tensor imaging (HARDI) data collected on a single individual across several sessions using the same scanner. HARDI data was acquired for one healthy adult male at the same time of day on ten separate days across a one-month period. Environmental ...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-015-9425-1

    authors: Kuhn T,Gullett JM,Nguyen P,Boutzoukas AE,Ford A,Colon-Perez LM,Triplett W,Carney PR,Mareci TH,Price CC,Bauer RM

    更新日期:2016-06-01 00:00:00

  • Diffusion tensor imaging and magnetic resonance spectroscopy in traumatic brain injury: a review of recent literature.

    abstract::Concussion is the most common form of traumatic brain injury (TBI), but diagnosis remains controversial because the brain appears quite normal in conventional computed tomography and magnetic resonance imaging (MRI). These conventional tools are not sensitive enough to detect diffuse traumatic axonal injury, and canno...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章,评审

    doi:10.1007/s11682-013-9288-2

    authors: Xiong KL,Zhu YS,Zhang WG

    更新日期:2014-12-01 00:00:00

  • White matter characteristics between amygdala and prefrontal cortex underlie depressive tendency in end stage renal disease patients before the dialysis initiation.

    abstract::Depression is one of the common incidental symptoms in end-stage renal disease (ESRD) patients, empirically overlooked. Reproducible results observed that altered interregional white matter (WM) connections between depression-related brain regions (thalamus, amygdala, and prefrontal cortex (PFC)) in the human brain we...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-020-00376-6

    authors: Mu J,Ma L,Ding D,Ma X,Li P,Li R,Zhang M,Liu J

    更新日期:2020-10-13 00:00:00

  • Intrinsic network connectivity and own body perception in gender dysphoria.

    abstract::Gender dysphoria (GD) is characterized by incongruence between one's identity and gender assigned at birth. The biological mechanisms of GD are unclear. We investigated brain network connectivity patterns involved in own body perception in the context of self in GD. Twenty-seven female-to-male (FtM) individuals with G...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-016-9578-6

    authors: Feusner JD,Lidström A,Moody TD,Dhejne C,Bookheimer SY,Savic I

    更新日期:2017-08-01 00:00:00

  • Motor and extra-motor gray matter integrity may underlie neurophysiologic parameters of motor function in amyotrophic lateral sclerosis: a combined voxel-based morphometry and transcranial stimulation study.

    abstract::The association between gray matter (GM) density and neurophysiologic changes is still unclear in amyotrophic lateral sclerosis (ALS). We evaluated the relationship between GM density and motor system integrity combining voxel-based morphometry (VBM) and transcranial magnetic stimulation (TMS) in ALS. We included 17 A...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-018-9841-0

    authors: Christidi F,Karavasilis E,Velonakis G,Rentzos M,Zambelis T,Zouvelou V,Xirou S,Ferentinos P,Efstathopoulos E,Kelekis N,Evdokimidis I,Karandreas N

    更新日期:2018-12-01 00:00:00

  • Imaging genetics in attention-deficit/hyperactivity disorder and related neurodevelopmental domains: state of the art.

    abstract::Joint analysis of genetic and neuroimaging data, known as Imaging Genetics (IG), offers an opportunity to deepen our knowledge of the biological mechanisms of neurodevelopmental domains. There has been exponential growth in the literature on IG studies, which challenges the standardization of analysis methods in this ...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章,评审

    doi:10.1007/s11682-016-9663-x

    authors: Vilor-Tejedor N,Cáceres A,Pujol J,Sunyer J,González JR

    更新日期:2017-12-01 00:00:00

  • Visual symptom provocation in skin picking disorder: an fMRI study.

    abstract::Skin-picking disorder (SPD) is a common mental disorder characterized by recurrent and excessive picking of dermatological irregularities. Different disorder models have been developed to explain this behavior, but empirical evidence is still scarce. One model (the disgust-related disease avoidance model) suggests tha...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-017-9792-x

    authors: Schienle A,Übel S,Wabnegger A

    更新日期:2018-10-01 00:00:00

  • Gut dysbiosis-influence on amygdala-based functional activity in patients with end stage renal disease: a preliminary study.

    abstract::Patients with end-stage renal disease (ESRD) are notably accompanied by cognitive disorder and anxiety or depressive symptom. We aimed to explore the linkages of the amygdala-based MR parameters, cognitive and mood performance, systematic inflammation and gut microbiota in ESRD. This prospective study enrolled 28 ESRD...

    journal_title:Brain imaging and behavior

    pub_type: 杂志文章

    doi:10.1007/s11682-019-00223-3

    authors: Zheng LJ,Lin L,Zhong J,Zhang Z,Ye YB,Zhang XY,Wang YF,Zhang H,Liu Y,Lu GM,Gong D,Zhang LJ

    更新日期:2020-12-01 00:00:00