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https://www.readbyqxmd.com/read/29778910/a-case-of-vascular-ehlers-danlos-syndrome-with-a-cardiomyopathy-and-multi-system-involvement
#1
Nick Si Rui Lan, Michael Fietz, Nicholas Pachter, Vincent Paul, David Playford
Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a cardiomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a cardiomyopathy associated with a mutation in the COL3A1 gene. This case also illustrates the multi-system nature of Ehlers-Danlos Syndrome and the complexity of managing patients with the vascular subtype...
April 24, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29775752/the-genetics-and-molecular-pathogenesis-of-systemic-lupus-erythematosus-sle-in-populations-of-different-ancestry
#2
REVIEW
George N Goulielmos, Maria I Zervou, Vassilis M Vazgiourakis, Yogita Ghodke-Puranik, Alexandros Garyfallos, Timothy B Niewold
Systemic lupus erythematosus (SLE; OMIM 152700) is a highly heterogeneous disorder, characterized by differences in autoantibody profile, serum cytokines, and a multi-system involvement commonly affecting the skin, renal, musculoskeletal, and hematopoetic systems clinical manifestations involving. Disease features range from mild manifestations, such as rash or arthritis, to life-threatening end-organ manifestations, such as glomerulonephritis or thrombosis, and it is difficult to predict which manifestations will affect a given patient...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29775702/abnormal-sleep-architecture-and-hippocampal-circuit-dysfunction-in-a-mouse-model-of-fragile-x-syndrome
#3
Christine E Boone, Heydar Davoudi, Jon B Harrold, David J Foster
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and single-gene cause of autism spectrum disorder. The Fmr1 null mouse models much of the human disease including hyperarousal, sensory hypersensitivity, seizure activity, and hippocampus-dependent cognitive impairment. Sleep architecture is disorganized in FXS patients, but has not been examined in Fmr1 knockout (Fmr1-KO) mice. Hippocampal neural activity during sleep, which is implicated in memory processing, also remains uninvestigated in Fmr1-KO mice...
May 15, 2018: Neuroscience
https://www.readbyqxmd.com/read/29765027/polygenic-pleiotropy-and-potential-causal-relationships-between-educational-attainment-neurobiological-profile-and-positive-psychotic-symptoms
#4
Yen-Feng Lin, Chia-Yen Chen, Dost Öngür, Rebecca Betensky, Jordan W Smoller, Deborah Blacker, Mei-Hua Hall
Event-related potential (ERP) components have been used to assess cognitive functions in patients with psychotic illness. Evidence suggests that among patients with psychosis there is a distinct heritable neurophysiologic phenotypic subtype captured by impairments across a range of ERP measures. In this study, we investigated the genetic basis of this "globally impaired" ERP cluster and its relationship to psychosis and cognitive abilities. We applied K-means clustering to six ERP measures to re-derive the globally impaired (n = 60) and the non-globally impaired ERP clusters (n = 323) in a sample of cases with schizophrenia (SCZ = 136) or bipolar disorder (BPD = 121) and healthy controls (n = 126)...
May 16, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29764998/mapping-cortical-brain-asymmetry-in-17-141-healthy-individuals-worldwide-via-the-enigma-consortium
#5
Xiang-Zhen Kong, Samuel R Mathias, Tulio Guadalupe, David C Glahn, Barbara Franke, Fabrice Crivello, Nathalie Tzourio-Mazoyer, Simon E Fisher, Paul M Thompson, Clyde Francks
Hemispheric asymmetry is a cardinal feature of human brain organization. Altered brain asymmetry has also been linked to some cognitive and neuropsychiatric disorders. Here, the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) Consortium presents the largest-ever analysis of cerebral cortical asymmetry and its variability across individuals. Cortical thickness and surface area were assessed in MRI scans of 17,141 healthy individuals from 99 datasets worldwide. Results revealed widespread asymmetries at both hemispheric and regional levels, with a generally thicker cortex but smaller surface area in the left hemisphere relative to the right...
May 15, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29763849/heart-rate-variability-as-candidate-endophenotype-of-social-anxiety-a-two-generation-family-study
#6
A Harrewijn, M J W Van der Molen, B Verkuil, S W Sweijen, J J Houwing-Duistermaat, P M Westenberg
BACKGROUND: Social anxiety disorder (SAD) is the extreme fear and avoidance of one or more social situations. The goal of the current study was to investigate whether heart rate variability (HRV) during resting state and a social performance task (SPT) is a candidate endophenotype of SAD. METHODS: In this two-generation family study, patients with SAD with their partner and children, and their siblings with partner and children took part in a SPT (total n = 121, 9 families, 3-30 persons per family, age range: 8-61 years, 17 patients with SAD)...
May 8, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29760442/cross-ancestry-genome-wide-association-analysis-of-corneal-thickness-strengthens-link-between-complex-and-mendelian-eye-diseases
#7
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne E M Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline C W Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29758381/exploring-the-role-of-low-frequency-and-rare-exonic-variants-in-alcohol-and-tobacco-use
#8
Andries T Marees, Anke R Hammerschlag, Lisa Bastarache, Hilde de Kluiver, Florence Vorspan, Wim van den Brink, Dirk J Smit, Damiaan Denys, Eric R Gamazon, Ruifang Li-Gao, Elemi J Breetvelt, Mark C H de Groot, Tessel E Galesloot, Sita H Vermeulen, Jan L Poppelaars, Patrick C Souverein, Renske Keeman, Renée de Mutsert, Raymond Noordam, Frits R Rosendaal, Najada Stringa, Dennis O Mook-Kanamori, Ilonca Vaartjes, Lambertus A Kiemeney, Martin den Heijer, Natasja M van Schoor, Olaf H Klungel, Anke H Maitland-Van der Zee, Marjanka K Schmidt, Tinca J C Polderman, Andries R van der Leij, Danielle Posthuma, Eske M Derks
BACKGROUND: Alcohol and tobacco use are heritable phenotypes. However, only a small number of common genetic variants have been identified, and common variants account for a modest proportion of the heritability. Therefore, this study aims to investigate the role of low-frequency and rare variants in alcohol and tobacco use. METHODS: We meta-analyzed ExomeChip association results from eight discovery cohorts and included 12,466 subjects and 7432 smokers in the analysis of alcohol consumption and tobacco use, respectively...
April 25, 2018: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/29751017/differential-contributions-of-cortical-thickness-and-surface-area-to-trait-impulsivity-in-healthy-young-adults
#9
Katharina M Kubera, Mike M Schmitgen, Klaus H Maier-Hein, Philipp A Thomann, Dusan Hirjak, Robert C Wolf
BACKGROUND: Impulsivity is an essential human personality trait and highly relevant for the development of several mental disorders. There is evidence that impulsivity is heritable, yet little is known about neural correlates reflecting early brain development. Here, we address the question whether motor, attentional and non-planning components, as reflected by the Barratt Impulsiveness Scale (BIS-11), are distinctly associated with cortical thickness and surface area variations in young healthy individuals...
May 8, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29748366/omics-of-blood-pressure-and-hypertension
#10
REVIEW
Donna K Arnett, Steven A Claas
Essential hypertension is a common, complex disorder affecting ≤1 billion adults globally. Blood pressure is a highly heritable trait, with ≤50% of the variation between individuals accounted for by familial relationships. Despite this strong heritability, determining the genetic architecture of hypertension in humans has proved challenging. Recent technological and methodological developments have given rise to what is now known as omics-a domain of study that includes genomics, as well as epigenomics, transcriptomics, proteomics, and metabolomics...
May 11, 2018: Circulation Research
https://www.readbyqxmd.com/read/29745849/pathway-based-approach-using-hierarchical-components-of-rare-variants-to-analyze-multiple-phenotypes
#11
Sungyoung Lee, Yongkang Kim, Sungkyoung Choi, Heungsun Hwang, Taesung Park
BACKGROUND: As one possible solution to the "missing heritability" problem, many methods have been proposed that apply pathway-based analyses, using rare variants that are detected by next generation sequencing technology. However, while a number of methods for pathway-based rare-variant analysis of multiple phenotypes have been proposed, no method considers a unified model that incorporate multiple pathways. RESULTS: Simulation studies successfully demonstrated advantages of multivariate analysis, compared to univariate analysis, and comparison studies showed the proposed approach to outperform existing methods...
May 8, 2018: BMC Bioinformatics
https://www.readbyqxmd.com/read/29743074/genetic-analyses-in-a-cohort-of-191-pulmonary-arterial-hypertension-patients
#12
Hang Yang, Qixian Zeng, Yanyun Ma, Bingyang Liu, Qianlong Chen, Wenke Li, Changming Xiong, Zhou Zhou
BACKGROUND: Pulmonary arterial hypertension (PAH) is a progressive and fatal disorder associated with high pulmonary artery pressure. Genetic testing enables early diagnosis and offers an opportunity for family screening. To identify genetic mutations and help make a precise diagnosis, we performed genetic testing in 191 probands with PAH and tried to analyze the genotype-phenotype correlation. METHODS: Initially, PAH samples (n = 119) were submitted to BMPR2 screening using Sanger sequencing...
May 9, 2018: Respiratory Research
https://www.readbyqxmd.com/read/29740950/the-first-reported-case-of-an-inherited-pathogenic-chd2-variant-in-a-clinically-affected-mother-and-daughter
#13
Andrea Klunder Petersen, Haley Streff, Mari Tokita, Bret L Bostwick
Pathogenic variants in CHD2 (chromodomain helicase DNA-binding protein 2) have been reported in neurodevelopmental disorders with a broad spectrum of phenotypic variability, ranging from mild intellectual disability to atonic-myoclonic epilepsy. However, given the paucity of reported cases the extent of this phenotypic spectrum is currently unknown. Furthermore, all confirmed pathogenic CHD2 variants reported to date have been de novo, preventing the study of intrafamilial phenotypic heterogeneity and creating ambiguity regarding recurrence risk, penetrance, and expressivity...
May 9, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29740596/neuregulin-1-type-i-overexpression-is-associated-with-reduced-nmda-receptor-mediated-synaptic-signaling-in-hippocampal-interneurons-expressing-pv-or-cck
#14
Dimitrios Kotzadimitriou, Wiebke Nissen, Melinda Paizs, Kathryn Newton, Paul J Harrison, Ole Paulsen, Karri Lamsa
Hypofunction of N -methyl-d-aspartate receptors (NMDARs) in inhibitory GABAergic interneurons is implicated in the pathophysiology of schizophrenia (SZ), a heritable disorder with many susceptibility genes. However, it is still unclear how SZ risk genes interfere with NMDAR-mediated synaptic transmission in diverse inhibitory interneuron populations. One putative risk gene is neuregulin 1 ( NRG1 ), which signals via the receptor tyrosine kinase ErbB4, itself a schizophrenia risk gene. The type I isoform of NRG1 shows increased expression in the brain of SZ patients, and ErbB4 is enriched in GABAergic interneurons expressing parvalbumin (PV) or cholecystokinin (CCK)...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29739866/region-specific-regulation-of-presynaptic-dopamine-homeostasis-by-d2-autoreceptors-shapes-the-in-vivo-impact-of-the-neuropsychiatric-disease-associated-dat-variant-val559
#15
Raajaram Gowrishankar, Paul J Gresch, Gwynne L Davis, Rania M Katamish, Justin R Riele, Adele M Stewart, Roxanne A Vaughan, Maureen K Hahn, Randy D Blakely
Disruptions of dopamine (DA) signaling contribute to a broad spectrum of neuropsychiatric disorders, including attention-deficit hyperactivity disorder (ADHD), addiction, bipolar disorder and schizophrenia. Despite evidence that risk for these disorders derives from heritable variation in DA-linked genes, a better understanding is needed of the molecular and circuit context through which gene variation drives distinct disease traits. Previously, we identified the DA transporter (DAT) variant Val559 in subjects with ADHD and established that the mutation supports anomalous DAT-mediated DA efflux (ADE)...
May 8, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29737181/comparative-familial-aggregation-of-bipolar-disorder-in-patients-with-bipolar-i-and-bipolar-ii-disorders
#16
Gordon B Parker, Mia Romano, Rebecca K Graham, Tahlia Ricciardi
OBJECTIVE: We sought to quantify the prevalence and differential prevalence of a bipolar disorder among family members of patients with a bipolar I or II disorder. METHODS: The sample comprised 1165 bipolar and 1041 unipolar patients, with the former then sub-typed as having either a bipolar I or II condition. Family history data was obtained via an online self-report tool. RESULTS: Prevalence of a family member having a bipolar disorder (of either sub-type) was distinctive (36...
May 1, 2018: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/29732167/bugs-in-the-program-can-pregnancy-drugs-and-smoking-disturb-molecular-reprogramming-of-the-fetal-germline-increasing-heritable-risk-for-autism-and-neurodevelopmental-disorders
#17
Jill Escher
In a seeming paradox, the prevalence of autism spectrum disorder (ASD) has surged, while at the same time research has pointed to the strong heritability of this neurodevelopmental pathology. Here an autism research philanthropist suggests a biological phenomenon of exogenously induced 'gamete disruption' that could reconcile these seemingly contradictory observations. Mining information from her own family history and that of her fellow autism parents, while also engaging with the scientific community, she proposes that a subset of the autisms may be rooted in a variety of molecular glitches in parental gametes induced by certain acute exposures during the parents' own fetal or neonatal development...
April 2018: Environmental Epigenetics
https://www.readbyqxmd.com/read/29731509/a-genome-wide-association-study-for-extremely-high-intelligence
#18
D Zabaneh, E Krapohl, H A Gaspar, C Curtis, S H Lee, H Patel, S Newhouse, H M Wu, M A Simpson, M Putallaz, D Lubinski, R Plomin, G Breen
We used a case-control genome-wide association (GWA) design with cases consisting of 1238 individuals from the top 0.0003 (~170 mean IQ) of the population distribution of intelligence and 8172 unselected population-based controls. The single-nucleotide polymorphism heritability for the extreme IQ trait was 0.33 (0.02), which is the highest so far for a cognitive phenotype, and significant genome-wide genetic correlations of 0.78 were observed with educational attainment and 0.86 with population IQ. Three variants in locus ADAM12 achieved genome-wide significance, although they did not replicate with published GWA analyses of normal-range IQ or educational attainment...
May 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29724887/four-novel-mutations-in-the-alpl-gene-in-chinese-patients-with-odonto-childhood-and-adult-hypophosphatasia
#19
Lijun Xu, Qianqian Pang, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
Background and purpose: Hypophosphatasiais (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase activity. ALPL , the only gene related with HPP, encodes tissue non-specific alkaline phosphatase (TNSALP). Few studies were carried out in ALPL gene mutations in the Chinese population with HPP. The purpose of this study is to elucidate the clinical and genetic characteristics of HPP in 5 unrelated Chinese families and 2 sporadic patients...
May 3, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29721579/gaba-a-receptor-polymorphisms-in-alcohol-use-disorder-in-the-gwas-era
#20
REVIEW
Mairi Koulentaki, Elias Kouroumalis
Alcohol use disorder (AUD) is a chronic, relapsing, neuro-psychiatric illness of high prevalence and with a serious public health impact worldwide. It is complex and polygenic, with a heritability of about 50%, and influenced by environmental causal heterogeneity. Risk factors associated with its etiology have a genetic component. GABA (γ-aminobutyric acid) is a major inhibitory neurotransmitter in mammalian brain. GABAA receptors are believed to mediate some of the physiological and behavioral actions of alcohol...
May 2, 2018: Psychopharmacology
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