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Heritable disorders

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https://www.readbyqxmd.com/read/28651343/does-a-first-degree-family-history-of-diabetes-impact-placental-maternal-and-fetal-vascular-circulation-and-inflammatory-response
#1
Marina Shargorodsky, Michal Kovo, Letizia Schraiber, Jacob Bar
Context: Heritability of diabetes is associated with hyperinsulinemia, impaired endothelial function, and inflammatory up-regulation. However, no studies have examined whether a family history of diabetes effects placental vascular circulation. Objective: The present study was designed to investigate the impact of a first-degree family history of type 2 diabetes (FHD) on placental vascular circulation and inflammatory lesions. Design: Observational cohort study...
June 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28649997/characterizing-sleep-spindles-in-11-630-individuals-from-the-national-sleep-research-resource
#2
S M Purcell, D S Manoach, C Demanuele, B E Cade, S Mariani, R Cox, G Panagiotaropoulou, R Saxena, J Q Pan, J W Smoller, S Redline, R Stickgold
Sleep spindles are characteristic electroencephalogram (EEG) signatures of stage 2 non-rapid eye movement sleep. Implicated in sleep regulation and cognitive functioning, spindles may represent heritable biomarkers of neuropsychiatric disease. Here we characterize spindles in 11,630 individuals aged 4 to 97 years, as a prelude to future genetic studies. Spindle properties are highly reliable but exhibit distinct developmental trajectories. Across the night, we observe complex patterns of age- and frequency-dependent dynamics, including signatures of circadian modulation...
June 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28645967/the-bipolar-illness-onset-study-research-protocol-for-the-bio-cohort-study
#3
Lars Vedel Kessing, Klaus Munkholm, Maria Faurholt-Jepsen, Kamilla Woznica Miskowiak, Lars Bo Nielsen, Ruth Frikke-Schmidt, Claus Ekstrøm, Ole Winther, Bente Klarlund Pedersen, Henrik Enghusen Poulsen, Roger S McIntyre, Flavio Kapczinski, Wagner F Gattaz, Jakob Bardram, Mads Frost, Oscar Mayora, Gitte Moos Knudsen, Mary Phillips, Maj Vinberg
INTRODUCTION: Bipolar disorder is an often disabling mental illness with a lifetime prevalence of 1%-2%, a high risk of recurrence of manic and depressive episodes, a lifelong elevated risk of suicide and a substantial heritability. The course of illness is frequently characterised by progressive shortening of interepisode intervals with each recurrence and increasing cognitive dysfunction in a subset of individuals with this condition. Clinically, diagnostic boundaries between bipolar disorder and other psychiatric disorders such as unipolar depression are unclear although pharmacological and psychological treatment strategies differ substantially...
June 23, 2017: BMJ Open
https://www.readbyqxmd.com/read/28645778/whole-genome-sequencing-of-monozygotic-twins-discordant-for-schizophrenia-indicates-multiple-genetic-risk-factors-for-schizophrenia
#4
Jinsong Tang, Yu Fan, Hong Li, Qun Xiang, Deng-Feng Zhang, Zongchang Li, Ying He, Yanhui Liao, Ya Wang, Fan He, Fengyu Zhang, Yin Yao Shugart, Chunyu Liu, Yanqing Tang, Raymond C K Chan, Chuan-Yue Wang, Yong-Gang Yao, Xiaogang Chen
Schizophrenia is a common disorder with a high heritability, but its genetic architecture is still elusive. We implemented whole-genome sequencing (WGS) analysis of 8 families with monozygotic (MZ) twin pairs discordant for schizophrenia to assess potential association of de novo mutations (DNMs) or inherited variants with susceptibility to schizophrenia. Eight nonsynonymous DNMs (including one splicing site) were identified and shared by twins, which were either located in previously reported schizophrenia risk genes (p...
June 8, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28641744/polygenic-risk-score-and-heritability-estimates-reveals-a-genetic-relationship-between-asd-and-ocd
#5
W Guo, J F Samuels, Y Wang, H Cao, M Ritter, P S Nestadt, J Krasnow, B D Greenberg, A J Fyer, J T McCracken, D A Geller, D L Murphy, J A Knowles, M A Grados, M A Riddle, S A Rasmussen, N C McLaughlin, E L Nurmi, K D Askland, B A Cullen, J Piacentini, D L Pauls, O J Bienvenu, S E Stewart, F S Goes, B Maher, A E Pulver, D Valle, M Mattheisen, J Qian, G Nestadt, Y Y Shugart
Obsessive-compulsive disorder (OCD) and Autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders that conceivably share genetic risk factors. However, the underlying genetic determinants remain largely unknown. In this work, the authors describe a combined genome-wide association study (GWAS) of ASD and OCD. The OCD dataset includes 2998 individuals in nuclear families. The ASD dataset includes 6898 individuals in case-parents trios. GWAS summary statistics were examined for potential enrichment of functional variants associated with gene expression levels in brain regions...
July 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28641109/rare-copy-number-variants-in-nrxn1-and-cntn6-increase-risk-for-tourette-syndrome
#6
Alden Y Huang, Dongmei Yu, Lea K Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A Chen, Lauren M McGrath, Cornelia Illmann, Paul Sandor, Cathy L Barr, Marco Grados, Harvey S Singer, Markus M Nöthen, Johannes Hebebrand, Robert A King, Yves Dion, Guy Rouleau, Cathy L Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R Müller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J Lyon, William M McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R Batterson, Renata Rizzo, Danielle C Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A Malaty, Michael S Okun, Douglas W Woods, Elliott Rees, Carlos N Pato, Michele T Pato, James A Knowles, Danielle Posthuma, David L Pauls, Nancy J Cox, Benjamin M Neale, Nelson B Freimer, Peristera Paschou, Carol A Mathews, Jeremiah M Scharf, Giovanni Coppola
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28637664/expanded-repertoire-of-rasgrp2-variants-responsible-for-platelet-dysfunction-and-severe-bleeding
#7
Sarah K Westbury, Matthias Canault, Daniel Greene, Emilse Bermejo, Katharine Hanlon, Michele P Lambert, Carolyn M Millar, Paquita Nurden, Samya G Obaji, Shoshana Revel-Vilk, Chris Van Geet, Kate Downes, Sofia Papadia, Salih Tuna, Christopher Watt, Nihr BioResource-Rare Diseases Consortium, Kathleen Freson, Michael A Laffan, Willem H Ouwehand, Marie-Christine Alessi, Ernest Turro, Andrew D Mumford
Heritable platelet function disorders (PFDs) are genetically heterogeneous and poorly characterised. Pathogenic variants in RASGRP2, which encodes calcium and diacylglycerol-regulated guanine exchange factor I (CalDAG-GEFI), have been reported previously in three pedigrees with bleeding and reduced platelet aggregation responses. To better define the phenotype associated with pathogenic RASGRP2 variants, we compared high-throughput sequencing and phenotype data from 2,042 cases in pedigrees with unexplained bleeding or platelet disorders to data from 5,422 controls...
June 21, 2017: Blood
https://www.readbyqxmd.com/read/28627999/heritability-and-genome-wide-associations-studies-of-cerebral-blood-flow-in-the-general-population
#8
M Arfan Ikram, Hazel I Zonneveld, Gennady Roshchupkin, Albert V Smith, Oscar H Franco, Sigurdur Sigurdsson, Cornelia van Duijn, André G Uitterlinden, Lenore J Launer, Meike W Vernooij, Vilmundur Gudnason, Hieab Hh Adams
Cerebral blood flow is an important process for brain functioning and its dysregulation is implicated in multiple neurological disorders. While environmental risk factors have been identified, it remains unclear to what extent the flow is regulated by genetics. Here we performed heritability and genome-wide association analyses of cerebral blood flow in a population-based cohort study. We included 4472 persons free of cortical infarcts who underwent genotyping and phase-contrast magnetic resonance flow imaging (mean age 64...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28624582/further-replication-of-the-synergistic-interaction-between-lphn3-and-the-ntad-gene-cluster-on-adhd-and-its-clinical-course-throughout-adulthood
#9
Djenifer B Kappel, Jaqueline B Schuch, Diego L Rovaris, Bruna S da Silva, Renata B Cupertino, Cristina Winkler, Stefania P Teche, Eduardo S Vitola, Rafael G Karam, Luis A Rohde, Claiton H D Bau, Eugenio H Grevet, Nina R Mota
Attention-Deficit/Hyperactivity Disorder (ADHD) is a common and highly heritable neuropsychiatric disorder. Despite the high heritability, the unraveling of specific genetic factors related to ADHD is hampered by its considerable genetic complexity. Recent evidence suggests that gene-gene interactions can explain part of this complexity. We examined the impact of strongly supported interaction effects between the LPHN3 gene and the NTAD gene cluster (NCAM1-TTC12-ANKK1-DRD2) in a 7-year follow-up of a clinical sample of adults with ADHD, addressing associations with susceptibility, symptomatology and stability of diagnosis...
June 15, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28621522/formation-and-structure-of-wild-type-huntingtin-exon-1-fibrils
#10
J Mario Isas, Andreas Langen, Myles C Isas, Nitin Kumar Pandey, Ansgar B Siemer
The fact that the heritable neurodegenerative disorder Huntington's Disease (HD) is autosomal dominant means that there is one wild type and one mutant allele in most HD patients. The CAG repeat expansion in the exon 1 of the protein huntingtin (HTTex1) that causes the disease, leads to the formation of HTT fibrils in vitro and vivo. An important question for understanding the molecular mechanism of HD is which role wild type HTT plays for the formation, propagation, and structure of these HTT fibrils. Here we report that fibrils of mutant HTTex1 are able to seed the aggregation of wild type HTTex1 into amyloid fibrils which in turn can seed the fibril formation of mutant HTTex1...
June 16, 2017: Biochemistry
https://www.readbyqxmd.com/read/28621334/telomere-length-and-bipolar-disorder
#11
Timothy R Powell, Danai Dima, Sophia Frangou, Gerome Breen
Variation in telomere length is heritable and is currently considered a promising biomarker of susceptibility for neuropsychiatric disorders, particularly because of its association with memory function and hippocampal morphology. Here, we investigate telomere length in connection to familial risk and disease expression in bipolar disorder (BD). We used quantitative polymerase chain reactions and a telomere-sequence to single-copy-gene-sequence ratio method to determine telomere length in genomic DNA extracted from buccal smears from 63 patients with BD, 74 first-degree relatives (49 relatives had no lifetime psychopathology and 25 had a non-BD mood disorder) and 80 unrelated healthy individuals...
June 16, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28619243/unfolding-the-genetic-pathways-of-dyslexia-in-asian-population-a-review
#12
REVIEW
Pawan Sharma, Rajesh Sagar
Dyslexia also known as specific reading disorder is a complex heritable disorder with unexpected difficulty in learning to read and spell despite adequate intelligence, education, environment, and normal senses. Over past decades, researchers have attempted to characterize dyslexia neurobiological and genetic levels and unfold its pathophysiology. The genetic research on dyslexia has received attention in Asia from the last decade. Though limited by different constraints the studies from Asia have been able to gather significant evidence in this field...
June 7, 2017: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/28616830/the-efficacy-of-genetic-counseling-for-psychiatric-disorders-a-meta-analysis
#13
Ramona Moldovan, Sebastian Pintea, Jehannine Austin
Psychiatric illnesses are complex, highly heritable disorders that have substantial implications for both affected individuals and their families. Though genetic testing is currently limited in its clinical usefulness in this area, interest in genetic counseling for psychiatric disorders has a relatively long history and many positive outcomes have been posited. Yet, empirical studies of genetic counseling outcomes have been emerging only more recently. The aim of the current meta-analysis was to analyze the efficacy of genetic counseling and explore potential moderators of its effect...
June 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28615674/meta-analysis-of-genome-wide-snp-and-pathway-based-associations-for-facets-of-neuroticism
#14
Song E Kim, Han-Na Kim, Yeo-Jun Yun, Seong Gu Heo, Juhee Cho, Min-Jung Kwon, Yoosoo Chang, Seungho Ryu, Hocheol Shin, Chol Shin, Nam H Cho, Yeon Ah Sung, Hyung-Lae Kim
Neuroticism is a heritable personality trait that is comprised of distinct sub-factors, or facets. Sub-factors of neuroticism are linked to different emotional states or psychiatric symptoms and studying the genetic variants associated with these facets may help reveal the biological mechanisms underlying psychiatric disorders. In the present study, a meta-analysis of genome-wide association studies for six facets of neuroticism was performed in 5584 participants from three cohorts. Additionally, a Gene Set Enrichment Analysis was conducted to find biological pathways associated with each facet...
June 15, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28615507/genetic-evaluations-of-chinese-patients-with-odontohypophosphatasia-resulting-from-heterozygosity-for-mutations-in-the-tissue-non-specific-alkaline-phosphatase-gene
#15
Jia Wan, Li Zhang, Tang Liu, Yewei Wang
BACKGROUND: Hypophosphatasia is a rare heritable metabolic disorder characterized by defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific (liver/bone/kidney) isoenzyme of alkaline phosphatase activity, caused by a number of loss-of-function mutations in the alkaline phosphatase liver type gene. We seek to explore the clinical manifestations and identify the mutations associated with the disease in a Chinese odonto- hypophosphatasia family. RESULTS: The proband and his younger brother affected with premature loss of primary teeth at their 2-year-old...
May 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28608620/genome-wide-association-study-of-facial-emotion-recognition-in-children-and-association-with-polygenic-risk-for-mental-health-disorders
#16
Jonathan R I Coleman, Kathryn J Lester, Robert Keers, Marcus R Munafò, Gerome Breen, Thalia C Eley
Emotion recognition is disrupted in many mental health disorders, which may reflect shared genetic aetiology between this trait and these disorders. We explored genetic influences on emotion recognition and the relationship between these influences and mental health phenotypes. Eight-year-old participants (n = 4,097) from the Avon Longitudinal Study of Parents and Children (ALSPAC) completed the Diagnostic Analysis of Non-Verbal Accuracy (DANVA) faces test. Genome-wide genotype data was available from the Illumina HumanHap550 Quad microarray...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28607545/the-genetics-of-aortopathies-in-clinical-cardiology
#17
REVIEW
Amit Goyal, Ali R Keramati, Matthew J Czarny, Jon R Resar, Arya Mani
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets...
2017: Clinical Medicine Insights. Cardiology
https://www.readbyqxmd.com/read/28607503/reproductive-fitness-and-genetic-risk-of-psychiatric-disorders-in-the-general-population
#18
Niamh Mullins, Andrés Ingason, Heather Porter, Jack Euesden, Alexandra Gillett, Sigurgeir Ólafsson, Daniel F Gudbjartsson, Cathryn M Lewis, Engilbert Sigurdsson, Evald Saemundsen, Ólafur Ó Gudmundsson, Michael L Frigge, Augustine Kong, Agnar Helgason, G Bragi Walters, Omar Gustafsson, Hreinn Stefansson, Kari Stefansson
The persistence of common, heritable psychiatric disorders that reduce reproductive fitness is an evolutionary paradox. Here, we investigate the selection pressures on sequence variants that predispose to schizophrenia, autism, bipolar disorder, major depression and attention deficit hyperactivity disorder (ADHD) using genomic data from 150,656 Icelanders, excluding those diagnosed with these psychiatric diseases. Polygenic risk of autism and ADHD is associated with number of children. Higher polygenic risk of autism is associated with fewer children and older age at first child whereas higher polygenic risk of ADHD is associated with having more children...
June 13, 2017: Nature Communications
https://www.readbyqxmd.com/read/28602111/genetics-of-polycystic-ovary-syndrome
#19
Kateryna Mykhalchenko, Daria Lizneva, Tatiana Trofimova, Walidah Walker, Larisa Suturina, Michael P Diamond, Ricardo Azziz
Polycystic ovary syndrome (PCOS) is a hormonal and metabolic disorder affecting 5 to 20% of reproductive-aged women worldwide that results in androgen excess, menstrual dysfunction and oligo-ovulatory subfertility, with increased risks for type 2 diabetes, endometrial adenocarcinoma, and potentially vascular disease, among other morbidities. PCOS is a complex genetic trait with strong heritability accounting for as high as 70% of the development of the disorder. Areas covered: The authors summarize the historical and recent findings of genetic studies of PCOS, such as familial studies, twin studies, and molecular genetic studies, including the results of recent genome wide associated studies...
July 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28600868/deep-bipolar-identifying-genomic-mutations-for-bipolar-disorder-via-deep-learning
#20
Sundaram Laksshman, Rajendra Rana Bhat, Vivek Viswanath, Xiaolin Li
Bipolar disorder (BD), also known as manic depression, is a brain disorder that affects the brain structure of a patient. It results in extreme mood swings, severe states of depression and over-excitement simultaneously. It is estimated that roughly 3% of the population of the United States (about 5.3 million adults) suffers from BD. Recent research efforts like the Twin studies have demonstrated a high heritability factor for the disorder, making genomics a viable alternative for detecting and treating bipolar disorder, in addition to conventional lengthy and costly post-symptom clinical diagnosis...
June 10, 2017: Human Mutation
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