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Heritable disorders

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https://www.readbyqxmd.com/read/28422330/genetic-relationships-among-female-fertility-disorders-female-fertility-traits-and-productivity-of-holstein-dairy-cows-in-the-early-lactation-period
#1
E Gernand, S König
Fertility health disorders from the early lactation period including retained placenta (REPLA), metritis (MET), corpus luteum persistence (CLP), anoestria/acyclia (AOEAC) and ovarial cysts (OC), as well as overall disease categories (disorders during the postpartal period (DPP), ovary infertility (OINF), overall trait definition "fertility disorders" (FD)), were used to estimate genetic (co)variance components with female fertility and test-day traits. The disease data set comprised 25,142 Holstein cows from parities 1, 2 and 3 resulting in 43,584 lactations...
April 19, 2017: Journal of Animal Breeding and Genetics, Zeitschrift Für Tierzüchtung und Züchtungsbiologie
https://www.readbyqxmd.com/read/28422133/gene-set-analysis-shows-association-between-fmrp-targets-and-autism-spectrum-disorder
#2
Arija Jansen, Gwen C Dieleman, August B Smit, Matthijs Verhage, Frank C Verhulst, Tinca J C Polderman, Danielle Posthuma
Autism spectrum disorder (ASD) is a heterogeneous group of disorders characterized by problems with social interaction, communication, and repetitive and restricted behavior. Despite its high heritability and the substantial progress made in elucidating genetic associations, the corresponding biological mechanisms are largely unknown. Our objective is to investigate the contribution of common genetic variation to biological pathways functionally involved in ASD. We conducted gene-set analyses to identify ASD-associated functional biological pathways using the statistical tools MAGMA and INRICH...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28419606/stratified-polygenic-risk-prediction-model-with-application-to-cagi-bipolar-disorder-sequencing-data
#3
Maggie Haitian Wang, Billy Chang, Rui Sun, Inchi Hu, Xiaoxuan Xia, William Ka Kei Wu, Ka Chun Chong, Benny Chung-Ying Zee
Genetic data consists of a wide range of marker types, including common, low frequency, and rare variants. Multiple genetic markers and their interactions play central roles in the heritability of complex disease. In this study, we propose an algorithm that uses a stratified variable selection design by genetic architectures and interaction effects, achieved by a data-set adaptive W-test. The polygenic sets in all strata were integrated to form a classification rule. The algorithm was applied to the Critical Assessment of Genome Interpretation 4 bipolar challenge sequencing data...
April 17, 2017: Human Mutation
https://www.readbyqxmd.com/read/28416812/a-new-locus-regulating-micall2-expression-was-identified-for-association-with-executive-inhibition-in-children-with-attention-deficit-hyperactivity-disorder
#4
L Yang, S Chang, Q Lu, Y Zhang, Z Wu, X Sun, Q Cao, Y Qian, T Jia, B Xu, Q Duan, Y Li, K Zhang, G Schumann, D Liu, J Wang, Y Wang, L Lu
Impaired executive inhibition is a core deficit of attention deficit hyperactivity disorder (ADHD), which is a common childhood-onset psychiatric disorder with high heritability. In this study, we performed a two-stage genome-wide association study of executive inhibition in ADHD in Han Chinese. We used the Stroop color-word interference test to evaluate executive inhibition. After quality control, 780 samples with phenotype and covariate data were included in the discovery stage, whereas 922 samples were included in the replication stage...
April 18, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28416300/pyrophosphate-supplementation-prevents-chronic-and-acute-calcification-in-abcc6-deficient-mice
#5
Viola Pomozi, Christopher Brampton, Koen van de Wetering, Janna Zoll, Bianca Calio, Kevin Pham, Jesse B Owens, Joel Marh, Stefan Moisyadi, András Váradi, Ludovic Martin, Carolin Bauer, Jeanette Erdmann, Zouhair Aherrahrou, Olivier Le Saux
Soft tissue calcification occurs in several common acquired pathologies, such as diabetes and hypercholesterolemia, or can result from genetic disorders. ABCC6, a transmembrane transporter primarily expressed in liver and kidneys, initiates a molecular pathway inhibiting ectopic calcification. ABCC6 facilitates the cellular efflux of ATP, which is rapidly converted into pyrophosphate (PPi), a major calcification inhibitor. Heritable mutations in ABCC6 underlie the incurable calcification disorder pseudoxanthoma elasticum and some cases of generalized arterial calcification of infancy...
April 14, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28414876/are-extremely-preterm-born-children-with-autism-the-victims-of-too-much-isolation-in-the-incubator
#6
Hugo Lagercrantz
When autism was first identified by Leo Kanner in 1943, he thought it was partially due to "genuine lack of maternal warmth". This "refrigerator mother theory" has been completely discarded and there is now a consensus that there is a connection between genetic heritability and autism spectrum disorder (ASD). Although Kanner was the first to publish a work on autism, the disease had already been observed by Hans Asperger in Vienna. The history of the discovery and recognition of autism is described in the interesting book: Neurotribes by Steve Silberman (1), This article is protected by copyright...
April 17, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28407215/updated-review-of-genetic%C3%A2-reticulate%C3%A2-pigmentary%C3%A2-disorders
#7
REVIEW
J Zhang, M Li, Z Yao
Reticulate pigmentary disorders are a group of disorders characterized by hyperpigmented and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura. Although, each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, these disorders are highly overlapped and difficult to differentiate in the clinical setting...
April 13, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28398343/large-scale-interaction-effects-reveal-missing-heritability-in-schizophrenia-bipolar-disorder-and-posttraumatic-stress-disorder
#8
H J Woo, C Yu, K Kumar, J Reifman
Genetic susceptibility factors behind psychiatric disorders typically contribute small effects individually. A possible explanation for the missing heritability is that the effects of common variants are not only polygenic but also non-additive, appearing only when interactions within large groups are taken into account. Here, we tested this hypothesis for schizophrenia (SZ) and bipolar disorder (BP) disease risks, and identified genetic factors shared with posttraumatic stress disorder (PTSD). When considered independently, few single-nucleotide polymorphisms (SNPs) reached genome-wide significance...
April 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28392151/effects-of-risk-for-bipolar-disorder-on-brain-function-a-twin-and-family-study
#9
Genichi Sugihara, Fergus Kane, Marco M Picchioni, Christopher A Chaddock, Eugenia Kravariti, Sridevi Kalidindi, Fruhling Rijsdijk, Timothea Toulopoulou, Vivienne A Curtis, Colm McDonald, Robin M Murray, Philip McGuire
Bipolar disorder (BPD) is associated with altered regional brain function during the performance of cognitive tasks. The relative contribution of genetic and environmental risk factors for BPD to these changes has not yet been quantified. We sought to address this issue in a functional neuroimaging study of people who varied in their risk for BPD. Functional magnetic resonance imaging was used to study 124 subjects (29 twin and 9 sibling pairs with at least one member with BPD, and 24 healthy twin pairs) performing a working memory task...
April 6, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28381493/recreational-concentrations-of-alcohol-enhance-synaptic-inhibition-of-cerebellar-unipolar-brush-cells-via-pre-and-postsynaptic-mechanisms
#10
Ben David Richardson, David James Rossi
Variation in cerebellar sensitivity to alcohol/ethanol (EtOH) is a heritable trait associated with alcohol use disorder (AUD) in humans and high EtOH consumption in rodents, but the underlying mechanisms are poorly understood. A recently identified cellular substrate of cerebellar sensitivity to EtOH: the GABAergic system of cerebellar granule cells (GCs), shows divergent responses to EtOH paralleling EtOH consumption and motor impairment phenotype. Although GCs are the dominant afferent integrator in the cerebellum, such integration is shared by unipolar brush cells (UBCs) in vestibulocerebellar lobes...
April 5, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28377728/tissue-nonspecific-alkaline-phosphatase-tnap-regulates-cranial-base-growth-and-synchondrosis-maturation
#11
Hwa K Nam, Monika Sharma, Jin Liu, Nan E Hatch
Hypophosphatasia is a rare heritable disorder caused by inactivating mutations in the gene (Alpl) that encodes tissue nonspecific alkaline phosphatase (TNAP). Hypophosphatasia with onset in infants and children can manifest as rickets. How TNAP deficiency leads to bone hypomineralization is well explained by TNAP's primary function of pyrophosphate hydrolysis when expressed in differentiated bone forming cells. How TNAP deficiency leads to abnormalities within endochondral growth plates is not yet known. Previous studies in hypophosphatemic mice showed that phosphate promotes chondrocyte maturation and apoptosis via MAPK signaling...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28376513/the-role-of-environmental-stress-on-lower-urinary-tract-symptoms
#12
Melissa T Sanford, Larissa V Rodriguez
PURPOSE OF REVIEW: Lower urinary tract symptoms (LUTS) have been associated with comorbid conditions such as anxiety and depression. In addition, stress appears to influence the development or exacerbation of LUTS. This article seeks to review literature regarding the role of environmental stress on LUTS, focusing on findings presented in the last year. RECENT FINDINGS: Numerous authors have published on the impact early childhood experiences, acute and chronic stress, and psychiatric illness play in the development of LUTS...
May 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/28374850/genome-wide-association-analysis-for-chronic-venous-disease-identifies-efemp1-and-kcnh8-as-susceptibility-loci
#13
Eva Ellinghaus, David Ellinghaus, Petra Krusche, Aljoscha Greiner, Claudia Schreiber, Susanna Nikolaus, Christian Gieger, Konstantin Strauch, Wolfgang Lieb, Philip Rosenstiel, Norbert Frings, Andreas Fiebig, Stefan Schreiber, Andre Franke
Chronic venous disease (CVD) is a multifactorial condition representing one of the most common disorders among populations of Western countries. The heritability of about 17% suggests genetic risk factors in CVD etiology. However, so far the genetic causes are unknown. We undertook the hitherto first genome-wide association study (GWAS) for CVD, analyzing more than 1.93 M SNPs in 4,942 German individuals, followed by replication in two independent German data sets. The combined analysis of discovery and replication stages (2,269 cases and 7,765 controls) yielded robust associations within the two genes EFEMP1 and KCNH8 (rs17278665, rs727139 with P < 5 × 10(-8)), and suggestive association within gene SKAP2 (rs2030136 with P < 5 × 10(-7))...
April 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28373808/family-history-in-patients-with-bipolar-disorder
#14
Osman Özdemir, Salih Coşkun, Elif Aktan Mutlu, Pınar Güzel Özdemir, Abdullah Atli, Ekrem Yilmaz, Sıddık Keskin
INTRODUCTION: In this study, we aimed to better understand the genetic transmission of bipolar disorder by examining the family history of patients. METHODS: Sixty-three patients with bipolar disorder and their families were included. The final sample comprised 156 bipolar patients and their family members. An inclusion criterion was the presence of bipolar disorder history in the family. The diagnosis of other family members was confirmed by analyzing their files, hospital records, and by calling them to the hospital...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28368970/exploration-of-large-rare-copy-number-variants-associated-with-psychiatric-and-neurodevelopmental-disorders-in-individuals-with-anorexia-nervosa
#15
Zeynep Yilmaz, Jin P Szatkiewicz, James J Crowley, NaEshia Ancalade, Marek K Brandys, Annemarie van Elburg, Carolien G F de Kovel, Roger A H Adan, Anke Hinney, Johannes Hebebrand, Monica Gratacos, Fernando Fernandez-Aranda, Georgia Escaramis, Juan R Gonzalez, Xavier Estivill, Eleftheria Zeggini, Patrick F Sullivan, Cynthia M Bulik
Anorexia nervosa (AN) is a serious and heritable psychiatric disorder. To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes. We conducted a case-only genome-wide CNV survey in 1983 female AN cases included in the Genetic Consortium for Anorexia Nervosa. Following stringent quality control procedures, we investigated whether pathogenic CNVs in regions previously implicated in psychiatric and neurodevelopmental disorders were present in AN cases. We observed two instances of the well-established pathogenic CNVs in AN cases...
March 31, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28368150/genetic-and-environmental-influences-on-diagnostic-and-statistical-manual-of-mental-disorders-fifth-edition-dsm-5-maladaptive-personality-traits-and-their-connections-with-normative-personality-traits
#16
Zara E Wright, Shandell Pahlen, Robert F Krueger
The Diagnostic and Statistical Manual for Mental Disorders-Fifth Edition (DSM-5) proposes an alternative model for personality disorders, which includes maladaptive-level personality traits. These traits can be operationalized by the Personality Inventory for the DSM-5 (PID-5). Although there has been extensive research on genetic and environmental influences on normative level personality, the heritability of the DSM-5 traits remains understudied. The present study addresses this gap in the literature by assessing traits indexed by the PID-5 and the International Personality Item Pool NEO (IPIP-NEO) in adult twins (N = 1,812 individuals)...
April 3, 2017: Journal of Abnormal Psychology
https://www.readbyqxmd.com/read/28361694/an-empirical-fuzzy-multifactor-dimensionality-reduction-method-for-detecting-gene-gene-interactions
#17
Sangseob Leem, Taesung Park
BACKGROUND: Detection of gene-gene interaction (GGI) is a key challenge towards solving the problem of missing heritability in genetics. The multifactor dimensionality reduction (MDR) method has been widely studied for detecting GGIs. MDR reduces the dimensionality of multi-factor by means of binary classification into high-risk (H) or low-risk (L) groups. Unfortunately, this simple binary classification does not reflect the uncertainty of H/L classification. Thus, we proposed Fuzzy MDR to overcome limitations of binary classification by introducing the degree of membership of two fuzzy sets H/L...
March 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28358316/theranostic-biomarkers-for-schizophrenia
#18
REVIEW
Matea Nikolac Perkovic, Gordana Nedic Erjavec, Dubravka Svob Strac, Suzana Uzun, Oliver Kozumplik, Nela Pivac
Schizophrenia is a highly heritable, chronic, severe, disabling neurodevelopmental brain disorder with a heterogeneous genetic and neurobiological background, which is still poorly understood. To allow better diagnostic procedures and therapeutic strategies in schizophrenia patients, use of easy accessible biomarkers is suggested. The most frequently used biomarkers in schizophrenia are those associated with the neuroimmune and neuroendocrine system, metabolism, different neurotransmitter systems and neurotrophic factors...
March 30, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28358029/genome-wide-association-study-identifies-three-novel-loci-in-fuchs-endothelial-corneal-dystrophy
#19
Natalie A Afshari, Robert P Igo, Nathan J Morris, Dwight Stambolian, Shiwani Sharma, V Lakshmi Pulagam, Steven Dunn, John F Stamler, Barbara J Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R Croasdale, Xuejun Qin, Kathryn P Burdon, S Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A Minear, Jiagang Zhao, Elmer Balajonda, George O Rosenwasser, Keith H Baratz, V Vinod Mootha, Sanjay V Patel, Simon G Gregory, Joan E Bailey-Wilson, Marianne O Price, Francis W Price, Jamie E Craig, John H Fingert, John D Gottsch, Anthony J Aldave, Gordon K Klintworth, Jonathan H Lass, Yi-Ju Li, Sudha K Iyengar
The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiring transplantation, we conducted a genome-wide association study (GWAS) on 1,404 FECD cases and 2,564 controls of European ancestry, followed by replication and meta-analysis, for a total of 2,075 cases and 3,342 controls. We identify three novel loci meeting genome-wide significance (P<5 × 10(-8)): KANK4 rs79742895, LAMC1 rs3768617 and LINC00970/ATP1B1 rs1200114...
March 30, 2017: Nature Communications
https://www.readbyqxmd.com/read/28353224/what-have-proteomic-studies-taught-us-about-novel-drug-targets-in-autism
#20
Paul C Guest, Daniel Martins-de-Souza
Autism spectrum disorders (ASDs) are a heterogeneous group of conditions with complex behavioural phenotypes. Although ASDs show a high rate of heritability, genetic research alone has not provided a complete understanding of the underlying causes. Recent developments using imaging techniques and proteomic-based molecular profiling approaches have now begun to generate new insights into the underlying pathways affected in both the brain and the periphery in individuals with these conditions. Of potential high importance is the constant finding of gender-specific biomarker profiles in ASD patients...
2017: Advances in Experimental Medicine and Biology
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