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https://www.readbyqxmd.com/read/29158579/rare-susceptibility-variants-for-bipolar-disorder-suggest-a-role-for-g-protein-coupled-receptors
#1
C Cruceanu, J-F Schmouth, S G Torres-Platas, J P Lopez, A Ambalavanan, E Darcq, F Gross, B Breton, D Spiegelman, D Rochefort, P Hince, J M Petite, J Gauthier, R G Lafrenière, P A Dion, C M Greenwood, B L Kieffer, M Alda, G Turecki, G A Rouleau
Bipolar disorder (BD) is a prevalent mood disorder that tends to cluster in families. Despite high heritability estimates, few genetic susceptibility factors have been identified over decades of genetic research. One possible interpretation for the shortcomings of previous studies to detect causative genes is that BD is caused by highly penetrant rare variants in many genes. We explored this hypothesis by sequencing the exomes of affected individuals from 40 well-characterized multiplex families. We identified rare variants segregating with affected status in many interesting genes, and found an enrichment of deleterious variants in G protein-coupled receptor (GPCR) family genes, which are important drug targets...
November 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29154156/delta-beta-correlation-as-a-candidate-endophenotype-of-social-anxiety-a-two-generation-family-study
#2
Anita Harrewijn, Melle J W van der Molen, Irene M van Vliet, Jeanine J Houwing-Duistermaat, P Michiel Westenberg
BACKGROUND: Social anxiety disorder (SAD) is characterized by an extreme and intense fear and avoidance of social situations. In this two-generation family study we examined delta-beta correlation during a social performance task as candidate endophenotype of SAD. METHODS: Nine families with a target participant (diagnosed with SAD), their spouse and children, as well as target's siblings with spouse and children performed a social performance task in which they gave a speech in front of a camera...
November 10, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29152902/the-genetics-of-human-personality
#3
REVIEW
Sandra Sanchez-Roige, Joshua C Gray, James K MacKillop, Chi-Hua Chen, Abraham A Palmer
Personality traits are the relatively enduring patterns of thoughts, feelings, and behaviors that reflect the tendency to respond in certain ways under certain circumstances. Twin and family studies have demonstrated that personality traits are moderately heritable, and can predict various lifetime outcomes, including psychopathology. The Research Domain Criteria (RDoC) characterizes psychiatric diseases as extremes of normal tendencies, including specific personality traits. This implies that heritable variation in personality traits, such as neuroticism, would share a common genetic basis with psychiatric diseases, such as major depressive disorder (MDD)...
November 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29148569/exome-sequence-analysis-and-follow-up-genotyping-implicates-rare-ulk1-variants-to-be-involved-in-susceptibility-to-schizophrenia
#4
Mariam M Al Eissa, Alessia Fiorentino, Sally I Sharp, Niamh L O'Brien, Kate Wolfe, Giovanni Giaroli, David Curtis, Nicholas J Bass, Andrew McQuillin
Schizophrenia (SCZ) is a severe, highly heritable psychiatric disorder. Elucidation of the genetic architecture of the disorder will facilitate greater understanding of the altered underlying neurobiological mechanisms. The aim of this study was to identify likely aetiological variants in subjects affected with SCZ. Exome sequence data from a SCZ cas-control sample from Sweden was analysed for likely aetiological variants using a weighted burden test. Suggestive evidence implicated the UNC-51-like kinase (ULK1) gene, and it was observed that four rare variants that were more common in the Swedish SCZ cases were also more common in UK10K SCZ cases, as compared to obesity cases...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29146545/werner-syndrome-wrn-gene-variants-and-their-association-with-altered-function-and-age-associated-diseases
#5
REVIEW
Michel Lebel, Raymond J Monnat
Werner syndrome (WS) is a heritable autosomal recessive human disorder characterized by the premature onset of several age-associated pathologies including cancer. The protein defective in WS patients, WRN, is encoded by a member of the human RECQ gene family that contains both a DNA exonuclease and a helicase domain. WRN has been shown to participate in several DNA metabolic pathways including DNA replication, recombination and repair, as well as telomere maintenance and transcription modulation. Here we review base pair-level genetic variation that has been documented in WRN, with an emphasis on non-synonymous coding single nucleotide polymorphisms (SNPs) and their associations with anthropomorphic features, longevity and disease risk...
November 14, 2017: Ageing Research Reviews
https://www.readbyqxmd.com/read/29131352/grik1-and-gabra2-variants-have-distinct-effects-on-the-dose-related-subjective-response-to-intravenous-alcohol-in-healthy-social-drinkers
#6
Bao-Zhu Yang, Albert J Arias, Richard Feinn, John H Krystal, Joel Gelernter, Ismene L Petrakis
BACKGROUND: The heritable risk for alcohol use disorder (AUD) is expressed partly through alterations in subjective alcohol response. In this study, we investigated the effects of 2 AUD-risk-associated single nucleotide polymorphisms, GABRA2 rs279858 and GRIK1 rs2832407, on the subjective response to alcohol administered intravenously to healthy social drinkers in a laboratory setting. METHODS: In total, 93 self-identified European American social drinkers underwent 3 blinded laboratory sessions in which they received intravenous infusions of ethanol at 3 target blood alcohol levels (0...
November 13, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29127340/hair-cortisol-in-twins-heritability-and-genetic-overlap-with-psychological-variables-and-stress-system-genes
#7
Liz Rietschel, Fabian Streit, Gu Zhu, Kerrie McAloney, Josef Frank, Baptiste Couvy-Duchesne, Stephanie H Witt, Tina M Binz, John McGrath, Ian B Hickie, Narelle K Hansell, Margaret J Wright, Nathan A Gillespie, Andreas J Forstner, Thomas G Schulze, Stefan Wüst, Markus M Nöthen, Markus R Baumgartner, Brian R Walker, Andrew A Crawford, Lucía Colodro-Conde, Sarah E Medland, Nicholas G Martin, Marcella Rietschel
Hair cortisol concentration (HCC) is a promising measure of long-term hypothalamus-pituitary-adrenal (HPA) axis activity. Previous research has suggested an association between HCC and psychological variables, and initial studies of inter-individual variance in HCC have implicated genetic factors. However, whether HCC and psychological variables share genetic risk factors remains unclear. The aims of the present twin study were to: (i) assess the heritability of HCC; (ii) estimate the phenotypic and genetic correlation between HPA axis activity and the psychological variables perceived stress, depressive symptoms, and neuroticism; using formal genetic twin models and molecular genetic methods, i...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29125625/low-inherent-sensitivity-to-the-intoxicating-effects-of-ethanol-in-rhesus-monkeys-with-low-csf-concentrations-of-the-serotonin-metabolite-5-hydroxyindoleacetic-acid
#8
Elizabeth K Wood, Ryno Kruger, Angus Bennion, Bradley M Cooke, Stephen Lindell, Melanie Schwandt, David Goldman, Christina S Barr, Stephen J Suomi, J Dee Higley
INTRODUCTION: Type 2 Alcoholism is characterized by low serotonin system functioning and has a high degree of heritability, with offspring of alcoholics often showing a reduced response to the intoxicating effects of ethanol, which is thought to be marker for future alcohol use disorders (AUDs). As such, an important aim of studies investigating the origins of AUDs is understanding the relationship between serotonin system functioning and level of intoxication. A nonhuman primate model was used to evaluate observational ratings of sensitivity to ethanol and to further investigate the relationship between central serotonin activity and behavioral response to ethanol...
November 10, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29121166/characteristics-diagnosis-and-management-of-ehlers-danlos-syndromes-a-review
#9
Andrew W Joseph, Shannon S Joseph, Clair A Francomano, Theda C Kontis
Importance: Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders. Patients with EDSs can develop excessive facial rhytids, nasal deformities, and facial scarring, for which they may seek consultation with a facial plastic surgeon. Ehlers-Danlos syndromes can be associated with serious surgical complications and should be identified preoperatively to facilitate optimal treatment. To our knowledge, no management guidelines for patients with EDSs exist in the facial plastic surgery literature...
November 9, 2017: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/29120849/genetic-analysis-of-impulsive-personality-traits-examination-of-a-priori-candidates-and-genome-wide-variation
#10
Joshua C Gray, James MacKillop, Jessica Weafer, Kyle M Hernandez, Jianjun Gao, Abraham A Palmer, Harriet de Wit
Impulsive personality traits are heritable risk factors and putative endophenotypes for addiction and other psychiatric disorders involving disinhibition. This study examined the genetic basis of impulsive personality traits, defined as scores on the Barratt Impulsiveness Scale (BIS-11) and the UPPS-P Impulsive Behavior Scale (UPPS-P). In 983 healthy young adults of European ancestry, the study examined genetic variation in relation to a combined phenotype of seven subscales based on high phenotypic intercorrelations...
November 8, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/29120068/diagnosis-and-genetics-of-alacrima
#11
REVIEW
J Adams, C P Schaaf
Alacrima, the lack of tears, is a rare clinical finding that has been reported as a feature of multiple genetic disorders and can serve as a diagnostic clue to some rare conditions. Causes of alacrima range from absence/hyposecretion of tears to agenesis or improper development of lacrimal gland ducts and associated structures. There are 13 known heritable disorders featuring varying degrees and causes of alacrima. Some manifest only the congenital absence of tears, while others affect multiple organ systems and may involve severe developmental delay, intellectual disability, and potentially life-threatening autonomic dysregulation...
November 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29112194/genome-wide-association-study-identifies-a-novel-locus-for-cannabis-dependence
#12
A Agrawal, Y-L Chou, C E Carey, D A A Baranger, B Zhang, R Sherva, L Wetherill, M Kapoor, J-C Wang, S Bertelsen, A P Anokhin, V Hesselbrock, J Kramer, M T Lynskey, J L Meyers, J I Nurnberger, J P Rice, J Tischfield, L J Bierut, L Degenhardt, L A Farrer, J Gelernter, A R Hariri, A C Heath, H R Kranzler, P A F Madden, N G Martin, G W Montgomery, B Porjesz, T Wang, J B Whitfield, H J Edenberg, T Foroud, A M Goate, R Bogdan, E C Nelson
Despite moderate heritability, only one study has identified genome-wide significant loci for cannabis-related phenotypes. We conducted meta-analyses of genome-wide association study data on 2080 cannabis-dependent cases and 6435 cannabis-exposed controls of European descent. A cluster of correlated single-nucleotide polymorphisms (SNPs) in a novel region on chromosome 10 was genome-wide significant (lowest P=1.3E-8). Among the SNPs, rs1409568 showed enrichment for H3K4me1 and H3K427ac marks, suggesting its role as an enhancer in addiction-relevant brain regions, such as the dorsolateral prefrontal cortex and the angular and cingulate gyri...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29110116/do-genetic-factors-explain-the-links-between-callous-unemotional-attention-hyperactivity-and-oppositional-defiant-problems-in-toddlers
#13
Megan Flom, Kimberly J Saudino
Research demonstrates that callous-unemotional (CU) behaviors, Attention Deficit Hyperactivity Disorder (ADHD) and Oppositional Defiant Problems (ODD) are related, but little is known about the sources of covariation among the three externalizing behaviors. The present study looked at genetic and environmental links between all three behavioral domains in twins at ages 2 and 3 years (MZ = 145, DZ = 169), a time when CU behaviors are beginning to emerge. CU, ADHD, and ODD behaviors as assessed using the Child Behavior Checklist 1...
November 6, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/29103540/emerging-concepts-in-gastric-neoplasia-heritable-gastric-cancers-and-polyposis-disorders
#14
REVIEW
Rachel S van der Post, Fátima Carneiro
Hereditary gastric cancer is a relatively rare disease with specific clinical and histopathologic characteristics. Hereditary gastric cancer of the diffuse type is predominantly caused by germline mutations in CDH1. The inherited cause of familial intestinal gastric cancer is unknown. Gastric adenocarcinoma and proximal polyposis of the stomach is a hereditary cancer syndrome caused by germline mutations in promoter 1B of APC. Other well-defined cancer syndromes, such as Lynch, Li-Fraumeni, and hereditary breast or ovarian cancer syndromes, are associated with increased risk of gastric cancer...
December 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/29100626/heritable-variation-with-little-or-no-maternal-effect-accounts-for-recurrence-risk-to-autism-spectrum-disorder-in-sweden
#15
Benjamin Hon Kei Yip, Dan Bai, Behrang Mahjani, Lambertus Klei, Yudi Pawitan, Christina M Hultman, Dorothy E Grice, Kathryn Roeder, Joseph D Buxbaum, Bernie Devlin, Abraham Reichenberg, Sven Sandin
BACKGROUND: Autism spectrum disorder (ASD) has both genetic and environmental origins, including potentially maternal effects. Maternal effects describe association of one or more maternal phenotypes with liability to ASD in progeny that are independent of maternally transmitted risk alleles. While maternal effects could play an important role, consistent with association to maternal traits such as immune status, no study has estimated maternal, additive genetic, and environmental effects in ASD...
September 21, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29099038/massively-parallel-sequencing-of-genes-implicated-in-heritable-cardiac-disorders-a-strategy-for-a-small-diagnostic-laboratory
#16
Ivone U S Leong, Alexander Stuckey, Daniele Belluoccio, Vicky Fan, Jonathan R Skinner, Debra O Prosser, Donald R Love
Sudden cardiac death (SCD) in people before the age of 35 years is a devastating event for any family. The causes of SCD in the young can be broadly divided into two groups: heritable cardiac disorders that affect the heart structure (cardiomyopathies) and primary electrical disorders (cardiac ion channelopathies). Genetic testing is vital as those suffering from cardiac ion channelopathies have structurally normal hearts, and those with cardiomyopathies may only show subtle abnormalities in the heart and these signs may not be detected during an autopsy...
October 10, 2017: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/29097255/association-of-pik3cg-gene-polymorphisms-with-attention-deficit-hyperactivity-disorder-a-case-control-study
#17
Xue Gu, Fang-Fen Yuan, Xin Huang, Yuwei Hou, Min Wang, Jun Lin, Jing Wu
Attention-deficit/hyperactivity disorder (ADHD) is a complicated neurodevelopmental disorder with high heritability. This study explores the association of PIK3CG gene single nucleotide polymorphisms (rs1129293, rs12536620, rs12667819, rs17847825, rs2230460) with ADHD in children and the relation of interaction between SNPs and environmental factors, including blood lead levels (BLLs) and feeding style. A case-control study was conducted with children aged 6-18years old, consisting of 389 children newly diagnosed with ADHD via the DSM-IV at the Wuhan Women and Children Medical Care Center, and 393 control participants were healthy children for physical examination during the same period...
October 31, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29093733/exome-wide-meta-analysis-identifies-rare-3-utr-variant-in-ercc1-cd3eap-associated-with-symptoms-of-sleep-apnea
#18
Ashley van der Spek, Annemarie I Luik, Desana Kocevska, Chunyu Liu, Rutger W W Brouwer, Jeroen G J van Rooij, Mirjam C G N van den Hout, Robert Kraaij, Albert Hofman, André G Uitterlinden, Wilfred F J van IJcken, Daniel J Gottlieb, Henning Tiemeier, Cornelia M van Duijn, Najaf Amin
Obstructive sleep apnea (OSA) is a common sleep breathing disorder associated with an increased risk of cardiovascular and cerebrovascular diseases and mortality. Although OSA is fairly heritable (~40%), there have been only few studies looking into the genetics of OSA. In the present study, we aimed to identify genetic variants associated with symptoms of sleep apnea by performing a whole-exome sequence meta-analysis of symptoms of sleep apnea in 1,475 individuals of European descent. We identified 17 rare genetic variants with at least suggestive evidence of significance...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29083029/dimensional-assessment-of-schizotypal-psychotic-and-other-psychiatric-traits-in-children-and-their-parents-development-and-validation-of-the-childhood-oxford-liverpool-inventory-of-feelings-and-experiences-on-a-representative-us-sample
#19
David W Evans, Laina G Lusk, Mylissa M Slane, Andrew M Michael, Scott M Myers, Mirko Uljarević, Oliver Mason, Gordon Claridge, Thomas Frazier
BACKGROUND: Healthy functioning relies on a variety of perceptual, cognitive, emotional, and behavioral abilities that are distributed throughout the normal population. Variation in these traits define the wide range of neurodevelopmental (NDD) and neuropsychiatric (NPD) disorders. Here, we introduce a new measure for assessing these traits in typically developing children and children at risk for NDD and NPD from age 2 to 18 years. METHOD: The Childhood Oxford-Liverpool Inventory of Feelings and Experiences (CO-LIFE) was created as a dimensional, parent-report measure of schizotypal and psychotic traits in the general population...
October 30, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/29079012/a-historical-and-current-review-of-newborn-screening-for-neuromuscular-disorders-from-around-the-world-lessons-for-the-united-states
#20
REVIEW
Lainie Friedman Ross, Angus John Clarke
BACKGROUND: We aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices. METHODS: The history of newborn screening for Duchenne muscular dystrophy began in 1975 with the measurement of creatinine kinase on newborn male blood spots from two Midwestern hospitals in the United States. Over the next 40 years, ten programs were implemented around the globe although none currently remain...
August 25, 2017: Pediatric Neurology
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