The SLC6A3 3′-UTR VNTR and intron 8 VNTR polymorphisms association in the time estimation

Marinho, Victor; Pinto, Giovanny R.; Oliveira, Antonio Thomaz de; Gomes, Anderson José Baía; Lima, Valéria Raquel Porto de; Ferreira-Fernandes, Hygor; Rocha, Kaline; Magalhães, Francisco; Velasques, Bruna; Ribeiro, Pedro; Cagy, Maurício; Gupta, Daya S.; Bastos, Víctor Hugo; Teixeira, Silmar

doi:10.1007/s00429-018-1773-3

Cited by 6 publications

(4 citation statements)

References 52 publications

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“…There [192] The C677T polymorphism is associated with migraine with aura in depressed patients [193]; The rs1801133 "CC" variant is associated with inattentiveness and hyperactivityimpulsivity [194]; T-allele carriers showed increased risk of depression following exposure to childhood trauma [195] NEGR1 (rs1432639) Negr1−/− mice showed anxiety-and depression-related behavior and decreased hippocampal neurogenesis [196]; other NEGR1 SNPs are linked to upregulation of NEGR1 in the PFC, cognition, and educational attainment [197] and with obesity [198] DAT/SLC6A3 (VNTR 3-UTR) 5p15. 33 151 / 272 OR = 2.06 (p < 0.05) [192] Variants have been associated with attentional switching deficits [199]; altered time estimation [200] and perception [201]; and superior decoding of mental state valence [202] HTR1A (rs6295) [206] SNPs are associated with sexually dimorphic effects on hypercompetitiveness, anxiety, and depression [207]; drug use frequency [208]; and negative emotionality at 3-36 months; [209] GNB3 (rs5443) 12p13.31 375/492 OR = 1.38 (p < 0.05) [192] Associated with SSRI-induced insomnia [210]; nortriptyline [211] and other antidepressant responses [212,213] OLFM4 (rs12552) LRFN5 SNPs are associated with both MDD and chronic pain [215]; depression risk in older adults [216]; synapse formation and maintenance [217]; other 14q21.2 mutations associated with autism spectrum disorder and developmental delay [218,219] RBFOX1 (rs8063603, rs7198928) [220] and variants are associated with brain glucose metabolism [221]; aggression [222]; and neurodevelopmental disorders [223] 5HTTLPR / SLC6A4 (44 [192]…”

Section: Conclusion and Future Research Directionsmentioning

confidence: 99%

Dissecting diagnostic heterogeneity in depression by integrating neuroimaging and genetics

Buch

Liston

2020

Neuropsychopharmacol.

147

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Depression is a heterogeneous and etiologically complex psychiatric syndrome, not a unitary disease entity, encompassing a broad spectrum of psychopathology arising from distinct pathophysiological mechanisms. Motivated by a need to advance our understanding of these mechanisms and develop new treatment strategies, there is a renewed interest in investigating the neurobiological basis of heterogeneity in depression and rethinking our approach to diagnosis for research purposes. Large-scale genome-wide association studies have now identified multiple genetic risk variants implicating excitatory neurotransmission and synapse function and underscoring a highly polygenic inheritance pattern that may be another important contributor to heterogeneity in depression. Here, we review various sources of phenotypic heterogeneity and approaches to defining and studying depression subtypes, including symptom-based subtypes and biology-based approaches to decomposing the depression syndrome. We review "dimensional," "categorical," and "hybrid" approaches to parsing phenotypic heterogeneity in depression and defining subtypes using functional neuroimaging. Next, we review recent progress in neuroimaging genetics (correlating neuroimaging patterns of brain function with genetic data) and its potential utility for generating testable hypotheses concerning molecular and circuit-level mechanisms. We discuss how genetic variants and transcriptomic profiles may confer risk for depression by modulating brain structure and function. We conclude by highlighting several promising areas for future research into the neurobiological underpinnings of heterogeneity, including efforts to understand sexually dimorphic mechanisms, the longitudinal dynamics of depressive episodes, and strategies for developing personalized treatments and facilitating clinical decision-making.

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Section: Conclusion and Future Research Directionsmentioning

confidence: 99%

Dissecting diagnostic heterogeneity in depression by integrating neuroimaging and genetics

Buch

Liston

2020

Neuropsychopharmacol.

147

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“…Among the GO biological processes affected by these genes were neurogenesis (GO:0022008; FDR=3.62e −8 ), neuron differentiation (GO:0030182; FDR=2.52e −7 ), and neuron development (GO:0048666; FDR=4.31e −7 ). These processes are potentially related to other findings that have linked VNTRs to neurodegenerative disorders and cognitive abilities (36,39,51,52,53,54,55,56,57,58) (Supplementary material Population specific Go BP.xlsx). The GO term behavior (GO:0007610; FDR=2.22e −4 ) was also found, which could be related to the association of VNTR loci with aggressive behavior (101,102,103).…”

Section: Common Vntr Genotypes Are Correlated With Gene Expression DImentioning

confidence: 62%

“…For example, VNTR polymorphisms may play a role in neurogenesis and account for "human-specific cognitive traits" (37). Furthermore, minisatellite VNTRs have been associated with a variety of diseases (43,44,45), including cancer (46,47,48,49,50), neurodegenerative disorders (51) such as Alzheimer's c 2020 The Author(s) This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/ by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.…”

Section: Introductionmentioning

confidence: 99%

“…For example, VNTR polymorphisms may play a role in neurogenesis and account for “human-specific cognitive traits” (37). Furthermore, minisatellite VNTRs have been associated with a variety of diseases (43, 44, 45), including cancer (46, 47, 48, 49, 50), neurodegenerative disorders (51) such as Alzheimer’s disease (39, 52, 53) and Huntington’s disease (36, 54), and other psychiatric conditions, such as PTSD (55), ADHD (56, 57), depression (58), and addiction (59).…”

Section: Introductionmentioning

confidence: 99%

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Genome-wide characterization of human minisatellite VNTRs: population-specific alleles and gene expression differences

Rasekh

Hernández

Drinan

et al. 2020

Preprint

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Variable Number Tandem Repeats (VNTRs) are tandem repeat (TR) loci that vary in copy number across a population. Using our program, VNTRseek, we analyzed human whole-genome sequencing datasets from 2,770 individuals in order to detect minisatellite VNTRs, i.e., those with pattern sizes ranging from 7 bp to 126 bp, and with array lengths up to 230 bp. We detected 35,638 VNTR loci and classified 5,676 as common (occurring in >5% of the population). Common VNTR loci were found to be enriched in genomic regions with regulatory function, i.e., transcription start sites and enhancers. Investigation of the common VNTRs in the context of population ancestry revealed that 1,096 loci contained population-specific alleles and that those could be used to classify individuals into super-populations with near perfect accuracy. Comparison of genotyping results with proximal genes indicated that in 120 cases (118 genes), expression differences correlated with VNTR genotype. We validated our predictions in several ways, including experimentally, through identification of predicted alleles in long reads, and by comparisons showing consistency between sequencing platforms. This study is the most comprehensive analysis of minisatellites VNTRs in the human population to date.

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Methylphenidate modifies activity in the prefrontal and parietal cortex accelerating the time judgment

et al. 2019

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The SLC6A3 3′-UTR VNTR and intron 8 VNTR polymorphisms association in the time estimation

Cited by 6 publications

References 52 publications

Dissecting diagnostic heterogeneity in depression by integrating neuroimaging and genetics

Dissecting diagnostic heterogeneity in depression by integrating neuroimaging and genetics

Genome-wide characterization of human minisatellite VNTRs: population-specific alleles and gene expression differences

Methylphenidate modifies activity in the prefrontal and parietal cortex accelerating the time judgment

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