keyword
MENU ▼
Read by QxMD icon Read
search

Heritable disorders

keyword
https://www.readbyqxmd.com/read/28092418/an-examination-of-the-etiologic-overlap-between-the-genetic-and-environmental-influences-on-insomnia-and-common-psychopathology
#1
Mackenzie J Lind, Sage E Hawn, Christina M Sheerin, Steven H Aggen, Robert M Kirkpatrick, Kenneth S Kendler, Ananda B Amstadter
BACKGROUND: Insomnia is comorbid with internalizing and externalizing psychiatric disorders. However, the extent to which the etiologic influences on insomnia and common psychopathology overlap is unclear. There are limited genetically informed studies of insomnia and internalizing disorders and few studies of overlap exist with externalizing disorders. METHODS: We utilized twin data from the Virginia Adult Twin Studies of Psychiatric and Substance Use Disorders (total n = 7,500)...
January 16, 2017: Depression and Anxiety
https://www.readbyqxmd.com/read/28091799/prenatal-risk-factors-and-the-etiology-of-adhd-review-of-existing-evidence
#2
REVIEW
Emma Sciberras, Melissa Mulraney, Desiree Silva, David Coghill
While it is well accepted that attention-deficit/hyperactivity disorder (ADHD) is a highly heritable disorder, not all of the risk is genetic. It is estimated that between 10 and 40% of the variance associated with ADHD is likely to be accounted for by environmental factors. There is considerable interest in the role that the prenatal environment might play in the development of ADHD with previous reviews concluding that despite demonstration of associations between prenatal risk factors (e.g. prematurity, maternal smoking during pregnancy) and ADHD, there remains insufficient evidence to support a definite causal relationship...
January 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28072448/identification-of-altered-brain-metabolites-associated-with-tnap-activity-in-a-mouse-model-of-hypophosphatasia-using-untargeted-nmr-based-metabolomics-analysis
#3
Thomas Cruz, Marie Gleizes, Stéphane Balayssac, Etienne Mornet, Grégory Marsal, José Luis Millán, Myriam Malet-Martino, Lionel G Nowak, Véronique Gilard, Caroline Fonta
Tissue Nonspecific Alkaline Phosphatase (TNAP) is a key player of bone mineralization and TNAP gene (ALPL) mutations in human are responsible for hypophosphatasia (HPP), a rare heritable disease affecting the mineralization of bones and teeth. Moreover, TNAP is also expressed by brain cells and the severe forms of HPP are associated with neurological disorders, including epilepsy and brain morphological anomalies. However TNAP's role in the nervous system remains poorly understood. In order to investigate its neuronal functions, we aimed to identify without any a priori the metabolites regulated by TNAP in the nervous tissue...
January 10, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28072414/evidence-for-genetic-heterogeneity-between-clinical-subtypes-of-bipolar-disorder
#4
A W Charney, D M Ruderfer, E A Stahl, J L Moran, K Chambert, R A Belliveau, L Forty, K Gordon-Smith, A Di Florio, P H Lee, E J Bromet, P F Buckley, M A Escamilla, A H Fanous, L J Fochtmann, D S Lehrer, D Malaspina, S R Marder, C P Morley, H Nicolini, D O Perkins, J J Rakofsky, M H Rapaport, H Medeiros, J L Sobell, E K Green, L Backlund, S E Bergen, A Juréus, M Schalling, P Lichtenstein, P Roussos, J A Knowles, I Jones, L A Jones, C M Hultman, R H Perlis, S M Purcell, S A McCarroll, C N Pato, M T Pato, N Craddock, M Landén, J W Smoller, P Sklar
We performed a genome-wide association study of 6447 bipolar disorder (BD) cases and 12 639 controls from the International Cohort Collection for Bipolar Disorder (ICCBD). Meta-analysis was performed with prior results from the Psychiatric Genomics Consortium Bipolar Disorder Working Group for a combined sample of 13 902 cases and 19 279 controls. We identified eight genome-wide significant, associated regions, including a novel associated region on chromosome 10 (rs10884920; P=3.28 × 10(-8)) that includes the brain-enriched cytoskeleton protein adducin 3 (ADD3), a non-coding RNA, and a neuropeptide-specific aminopeptidase P (XPNPEP1)...
January 10, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28072412/glutamatergic-and-gabaergic-gene-sets-in-attention-deficit-hyperactivity-disorder-association-to-overlapping-traits-in-adhd-and-autism
#5
J Naaijen, J Bralten, G Poelmans, J C Glennon, B Franke, J K Buitelaar
Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASD) often co-occur. Both are highly heritable; however, it has been difficult to discover genetic risk variants. Glutamate and GABA are main excitatory and inhibitory neurotransmitters in the brain; their balance is essential for proper brain development and functioning. In this study we investigated the role of glutamate and GABA genetics in ADHD severity, autism symptom severity and inhibitory performance, based on gene set analysis, an approach to investigate multiple genetic variants simultaneously...
January 10, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28061977/the-big-role-of-small-rnas-in-anxiety-and-stress-related-disorders
#6
S Malan-Müller, S M J Hemmings
In the study of complex, heterogeneous disorders, such as anxiety and stress-related disorders, epigenetic factors provide an additional level of heritable complexity. MicroRNAs (miRNAs) are a class of small, noncoding RNAs that function as epigenetic modulators of gene expression by binding to target messenger RNAs (mRNAs) and subsequently blocking translation or accelerating their degradation. In light of their abundance in the central nervous system (CNS) and their involvement in synaptic plasticity and neuronal differentiation, miRNAs represent an exciting frontier to be explored in the etiology and treatment of anxiety and stress-related disorders...
2017: Vitamins and Hormones
https://www.readbyqxmd.com/read/28058943/genome-wide-analysis-of-blood-gene-expression-in-migraine-implicates-immune-inflammatory-pathways
#7
Zachary F Gerring, Joseph E Powell, Grant W Montgomery, Dale R Nyholt
Background Typical migraine is a frequent, debilitating and painful headache disorder with an estimated heritability of about 50%. Although genome-wide association (GWA) studies have identified over 40 single nucleotide polymorphisms associated with migraine, further research is required to determine their biological role in migraine susceptibility. Therefore, we performed a study of genome-wide gene expression in a large sample of 83 migraine cases and 83 non-migraine controls to determine whether altered expression levels of genes and pathways could provide insights into the biological mechanisms underlying migraine...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28049566/an-analysis-of-two-genome-wide-association-meta-analyses-identifies-a-new-locus-for-broad-depression-phenotype
#8
Nese Direk, Stephanie Williams, Jennifer A Smith, Stephan Ripke, Tracy Air, Azmeraw T Amare, Najaf Amin, Bernhard T Baune, David A Bennett, Douglas H R Blackwood, Dorret Boomsma, Gerome Breen, Henriette N Buttenschøn, Enda M Byrne, Anders D Børglum, Enrique Castelao, Sven Cichon, Toni-Kim Clarke, Marilyn C Cornelis, Udo Dannlowski, Philip L De Jager, Ayse Demirkan, Enrico Domenici, Cornelia M van Duijn, Erin C Dunn, Johan G Eriksson, Tonu Esko, Jessica D Faul, Luigi Ferrucci, Myriam Fornage, Eco de Geus, Michael Gill, Scott D Gordon, Hans Jörgen Grabe, Gerard van Grootheest, Steven P Hamilton, Catharina A Hartman, Andrew C Heath, Karin Hek, Albert Hofman, Georg Homuth, Carsten Horn, Jouke Jan Hottenga, Sharon L R Kardia, Stefan Kloiber, Karestan Koenen, Zoltán Kutalik, Karl-Heinz Ladwig, Jari Lahti, Douglas F Levinson, Cathryn M Lewis, Glyn Lewis, Qingqin S Li, David J Llewellyn, Susanne Lucae, Kathryn L Lunetta, Donald J MacIntyre, Pamela Madden, Nicholas G Martin, Andrew M McIntosh, Andres Metspalu, Yuri Milaneschi, Grant W Montgomery, Ole Mors, Thomas H Mosley, Joanne M Murabito, Bertram Müller-Myhsok, Markus M Nöthen, Dale R Nyholt, Michael C O'Donovan, Brenda W Penninx, Michele L Pergadia, Roy Perlis, James B Potash, Martin Preisig, Shaun M Purcell, Jorge A Quiroz, Katri Räikkönen, John P Rice, Marcella Rietschel, Margarita Rivera, Thomas G Schulze, Jianxin Shi, Stanley Shyn, Grant C Sinnamon, Johannes H Smit, Jordan W Smoller, Harold Snieder, Toshiko Tanaka, Katherine E Tansey, Alexander Teumer, Rudolf Uher, Daniel Umbricht, Sandra Van der Auwera, Erin B Ware, David R Weir, Myrna M Weissman, Gonneke Willemsen, Jingyun Yang, Wei Zhao, Henning Tiemeier, Patrick F Sullivan
BACKGROUND: The genetics of depression has been explored in genome-wide association studies that focused on either major depressive disorder or depressive symptoms with mostly negative findings. A broad depression phenotype including both phenotypes has not been tested previously using a genome-wide association approach. We aimed to identify genetic polymorphisms significantly associated with a broad phenotype from depressive symptoms to major depressive disorder. METHODS: We analyzed two prior studies of 70,017 participants of European ancestry from general and clinical populations in the discovery stage...
December 8, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/28045094/building-a-genetic-risk-model-for-bipolar-disorder-from-genome-wide-association-data-with-random-forest-algorithm
#9
Li-Chung Chuang, Po-Hsiu Kuo
A genetic risk score could be beneficial in assisting clinical diagnosis for complex diseases with high heritability. With large-scale genome-wide association (GWA) data, the current study constructed a genetic risk model with a machine learning approach for bipolar disorder (BPD). The GWA dataset of BPD from the Genetic Association Information Network was used as the training data for model construction, and the Systematic Treatment Enhancement Program (STEP) GWA data were used as the validation dataset. A random forest algorithm was applied for pre-filtered markers, and variable importance indices were assessed...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28040410/a-genome-wide-association-study-of-fast-beta-eeg-in-families-of-european-ancestry
#10
Jacquelyn L Meyers, Jian Zhang, Niklas Manz, Madhavi Rangaswamy, Chella Kamarajan, Leah Wetherill, David B Chorlian, Sun J Kang, Lance Bauer, Victor Hesselbrock, John Kramer, Samuel Kuperman, John I Nurnberger, Jay Tischfield, Jen Chyong Wang, Howard J Edenberg, Alison Goate, Tatiana Foroud, Bernice Porjesz
BACKGROUND: Differences in fast beta (20-28 Hz) electroencephalogram (EEG) oscillatory activity distinguish some individuals with psychiatric and substance use disorders, suggesting that it may be a useful endophenotype for studying the genetics of disorders characterized by neural hyper-excitability. Despite the high heritability estimates provided by twin and family studies, there have been relatively few genetic studies of beta EEG, and to date only one genetic association finding has replicated (i...
December 28, 2016: International Journal of Psychophysiology
https://www.readbyqxmd.com/read/28039552/cerebrospinal-fluid-microglia-and-neurodegenerative-markers-in-twins-concordant-and-discordant-for-psychotic-disorders
#11
Viktoria Johansson, Joel Jakobsson, Rebecca G Fortgang, Henrik Zetterberg, Kaj Blennow, Tyrone D Cannon, Christina M Hultman, Lennart Wetterberg, Mikael Landén
Schizophrenia and bipolar disorder are debilitating psychiatric disorders with partially shared symptomatology including psychotic symptoms and cognitive impairment. Aberrant levels of microglia and neurodegenerative cerebrospinal fluid (CSF) markers have previously been found in schizophrenia and bipolar disorder. We aimed to analyze familial and environmental influences on these CSF markers and their relation to psychiatric symptoms and cognitive ability. CSF was collected from 17 complete twin pairs, nine monozygotic and eight dizygotic, and from one twin sibling...
December 30, 2016: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/28035992/osteogenic-differentiation-in-healthy-and-pathological-conditions
#12
REVIEW
Maria Teresa Valenti, Luca Dalle Carbonare, Monica Mottes
This review focuses on the osteogenic differentiation of mesenchymal stem cells (MSC), bone formation and turn-over in good and ill skeletal fates. The interacting molecular pathways which control bone remodeling in physiological conditions during a lifelong process are described. Then, alterations of the molecular pathways regulating osteogenesis are addressed. In the aging process, as well as in glucocorticoid-induced osteoporosis, bone loss is caused not only by an unbalanced bone resorption activity, but also by an impairment of MSCs' commitment towards the osteogenic lineage, in favour of adipogenesis...
December 27, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28035180/bipolar-disorder-associated-microrna-mir-1908-5p-regulates-the-expression-of-genes-functioning-in-neuronal-glutamatergic-synapses
#13
Yoonhee Kim, Yinhua Zhang, Kaifang Pang, Hyojin Kang, Heejoo Park, Yeunkum Lee, Bokyoung Lee, Heon-Jeong Lee, Won-Ki Kim, Dongho Geum, Kihoon Han
Bipolar disorder (BD), characterized by recurrent mood swings between depression and mania, is a highly heritable and devastating mental illness with poorly defined pathophysiology. Recent genome-wide molecular genetic studies have identified several protein-coding genes and microRNAs (miRNAs) significantly associated with BD. Notably, some of the proteins expressed from BD-associated genes function in neuronal synapses, suggesting that abnormalities in synaptic function could be one of the key pathogenic mechanisms of BD...
December 2016: Experimental Neurobiology
https://www.readbyqxmd.com/read/28034837/research-progress-of-regulatory-mechanism-of-dna-methylation-in-complex-traits-using-monozygotic-twins
#14
Liu Shuli, Zhang Shengli, Yu Ying
Coming from a single zygote, monozygotic (MZ) twins share nearly all of their genetic materials and are almost strikingly similar in appearance. Yet they are often discordant for important phenotypes including complex diseases. The study of discordant MZ twins allows us to understand the role of epigenetics in complex traits by controlling many potential confounders, such as genetic factors, maternal effects, age and sex. As we know, DNA methylation is the most stable epigenetic modification. In human, many causal genes, regulating disease status by DNA methylation modification in imprinting disorders, psychological disorders, autoimmune diseases and cancers, have been discovered, which provides a foundation for studying epigenetic regulation of diseases and application of epigenetic drugs...
December 20, 2016: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28011713/germline-compound-heterozygous-poly-glutamine-deletion-in-usf3-may-be-involved-in-predisposition-to-heritable-and-sporadic-epithelial-thyroid-carcinoma
#15
Ying Ni, Spencer Seballos, Benjamin Fletcher, Todd Romigh, Lamis Yehia, Jessica Mester, Leigha Senter, Farshad Niazi, Motoyasu Saji, Matthew D Ringel, Thomas LaFramboise, Charis Eng
Cowden syndrome (CS) is an autosomal dominant disorder that predisposes to breast, thyroid, and other epithelial cancers. Differentiated thyroid carcinoma (DTC), as one of the major component cancers of CS, is the fastest rising incident cancer in the USA, and the most familial of all solid tumors. To identify additional candidate genes of CS and potentially DTC, we analyzed a multi-generation CS-like family with papillary thyroid cancer (PTC), applying a combined linkage-based and whole-genome sequencing strategy and identified an in-frame germline compound heterozygous deletion, p...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28008168/cornerstones-of-crispr-cas-in-drug-discovery-and-therapy
#16
Christof Fellmann, Benjamin G Gowen, Pei-Chun Lin, Jennifer A Doudna, Jacob E Corn
The recent development of CRISPR-Cas systems as easily accessible and programmable tools for genome editing and regulation is spurring a revolution in biology. Paired with the rapid expansion of reference and personalized genomic sequence information, technologies based on CRISPR-Cas are enabling nearly unlimited genetic manipulation, even in previously difficult contexts, including human cells. Although much attention has focused on the potential of CRISPR-Cas to cure Mendelian diseases, the technology also holds promise to transform the development of therapies to treat complex heritable and somatic disorders...
December 23, 2016: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/28002544/the-genetic-architecture-of-major-depressive-disorder-in-han-chinese-women
#17
Roseann E Peterson, Na Cai, Tim B Bigdeli, Yihan Li, Mark Reimers, Anna Nikulova, Bradley T Webb, Silviu-Alin Bacanu, Brien P Riley, Jonathan Flint, Kenneth S Kendler
Importance: Despite the moderate, well-demonstrated heritability of major depressive disorder (MDD), there has been limited success in identifying replicable genetic risk loci, suggesting a complex genetic architecture. Research is needed to quantify the relative contribution of classes of genetic variation across the genome to inform future genetic studies of MDD. Objectives: To apply aggregate genetic risk methods to clarify the genetic architecture of MDD by estimating and partitioning heritability by chromosome, minor allele frequency, and functional annotations and to test for enrichment of rare deleterious variants...
December 21, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/28000083/impulsivity-in-rodents-with-a-genetic-predisposition-for-excessive-alcohol-consumption-is-associated-with-a-lack-of-a-prospective-strategy
#18
David N Linsenbardt, Michael P Smoker, Sarine S Janetsian-Fritz, Christopher C Lapish
Increasing evidence supports the hypothesis that impulsive decision-making is a heritable risk factor for an alcohol use disorder (AUD). Clearly identifying a link between impulsivity and AUD risk, however, is complicated by the fact that both AUDs and impulsivity are heterogeneous constructs. Understanding the link between the two requires identifying the underlying cognitive factors that lead to impulsive choices. Rodent models have established that a family history of excessive drinking can lead to the expression of a transgenerational impulsive phenotype, suggesting heritable alterations in the decision-making process...
December 20, 2016: Cognitive, Affective & Behavioral Neuroscience
https://www.readbyqxmd.com/read/27995564/a-review-of-the-functional-and-anatomical-default-mode-network-in-schizophrenia
#19
REVIEW
Mao-Lin Hu, Xiao-Fen Zong, J John Mann, Jun-Jie Zheng, Yan-Hui Liao, Zong-Chang Li, Ying He, Xiao-Gang Chen, Jin-Song Tang
Schizophrenia is a severe mental disorder characterized by impaired perception, delusions, thought disorder, abnormal emotion regulation, altered motor function, and impaired drive. The default mode network (DMN), since it was first proposed in 2001, has become a central research theme in neuropsychiatric disorders, including schizophrenia. In this review, first we define the DMN and describe its functional activity, functional and anatomical connectivity, heritability, and inverse correlation with the task positive network...
December 19, 2016: Neuroscience Bulletin
https://www.readbyqxmd.com/read/27993231/neural-markers-in-pediatric-bipolar-disorder-and-familial-risk-for-bipolar-disorder
#20
Jillian Lee Wiggins, Melissa A Brotman, Nancy E Adleman, Pilyoung Kim, Caroline G Wambach, Richard C Reynolds, Gang Chen, Kenneth Towbin, Daniel S Pine, Ellen Leibenluft
OBJECTIVE: Bipolar disorder (BD) is highly heritable. Neuroimaging studies comparing unaffected youth at high familial risk for BD (i.e., those with a first-degree relative with the disorder; termed "high-risk" [HR]) to "low-risk" (LR) youth (i.e., those without a first-degree relative with BD) and to patients with BD may help identify potential brain-based markers associated with risk (i.e., regions where HR+BD≠LR), resilience (HR≠BD+LR), or illness (BD≠HR+LR). METHOD: During functional magnetic resonance imaging (fMRI), 99 youths (i...
January 2017: Journal of the American Academy of Child and Adolescent Psychiatry
keyword
keyword
3788
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"