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https://www.readbyqxmd.com/read/28544613/qtl-and-systems-genetics-analysis-of-mouse-grooming-and-behavioral-responses-to-novelty-in-an-open-field
#1
Anna Delprato, Marie-Paule Algéo, Brice Bonheur, Jason A Bubier, Lu Lu, Robert W Williams, Elissa J Chesler, Wim E Crusio
The open field is a classic test used to assess exploratory behavior, anxiety, and locomotor activity in rodents. Here we mapped quantitative trait loci (QTLs) underlying behaviors displayed in an open field, using a panel of 53 BXD recombinant inbred mouse strains with deep replication (10 per strain and sex). The use of these strains permits the integration and comparison of data obtained in different laboratories, and also offers the possibility to study trait covariance by exploiting powerful bioinformatics tools and resources...
May 24, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28544218/genome-wide-mediation-analysis-of-psychiatric-and-cognitive-traits-through-imaging-phenotypes
#2
Xuan Bi, Liuqing Yang, Tengfei Li, Baisong Wang, Hongtu Zhu, Heping Zhang
Heritability is well documented for psychiatric disorders and cognitive abilities which are, however, complex, involving both genetic and environmental factors. Hence, it remains challenging to discover which and how genetic variations contribute to such complex traits. In this article, they propose to use mediation analysis to bridge this gap, where neuroimaging phenotypes were utilized as intermediate variables. The Philadelphia Neurodevelopmental Cohort was investigated using genome-wide association studies (GWAS) and mediation analyses...
May 22, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28543538/clinical-and-histopathological-features-of-myofibrillar-myopathy-in-warmblood-horses
#3
S J Valberg, A M Nicholson, S S Lewis, R A Reardon, C J Finno
BACKGROUND: To report a novel exertional myopathy, myofibrillar myopathy (MFM), in Warmblood horses. OBJECTIVES: To 1) describe the distinctive clinical and myopathic features of MFM in Warmblood horses, 2) investigate the potential inheritance of MFM in a Warmblood family. STUDY DESIGN: Retrospective selection of MFM cases and prospective evaluation of a Warmblood family. METHODS: Retrospectively, muscle biopsies were selected from Warmblood horses diagnosed with MFM and clinical histories obtained (n = 10)...
May 22, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28542786/digest-strengthening-the-link-between-sexual-selection-and-color-polymorphism
#4
Thomas E White
Heritable variation is the fuel for adaptive evolution, and the processes that generate and maintain it have been the focus of intense interest since the inception of modern evolutionary biology. The level at which variation is expressed determines, in large part, the processes that maintain it. Neutral and nearly-neutral molecular variation (e.g. silent nucleotide substitutions), for example, are seldom exposed to selection, and largely evolve via genetic drift (Kimura 1984). An enduring puzzle, however, is presented by extreme variation that is exposed to and persists in the face of selection...
May 23, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28542701/two-separate-effects-contribute-to-regulatory-t-cell-defect-in-sle-patients-and-their-unaffected-relatives
#5
Nuno Costa, Oriana Marques, Sandra I Godinho, Cláudia Carvalho, Barbara Leal, Ana M Figueiredo, Carlos Vasconcelos, António Marinho, Maria F Moraes-Fontes, António Gomes da Costa, Cristina Ponte, Raquel Campanilho-Marques, Telma Cóias, Ana R Martins, João F Viana, Margarida Lima, Berta Martins, Constantin Fesel
FOXP3(+) regulatory T-cells (Tregs) are functionally deficient in Systemic Lupus Erythematosus (SLE), characterized by reduced surface CD25 (the IL-2 receptor alpha chain). Low-dose IL-2 therapy is a promising current approach to correct this defect. To elucidate the origins of the SLE Treg phenotype, we studied its role through developmentally defined Treg subsets in 45 SLE patients, 103 SLE-unaffected first-degree relatives and 61 unrelated healthy control subjects, and genetic association with the CD25-encoding IL2RA locus...
May 24, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28541271/protein-altering-and-regulatory-genetic-variants-near-gata4-implicated-in-bicuspid-aortic-valve
#6
Bo Yang, Wei Zhou, Jiao Jiao, Jonas B Nielsen, Michael R Mathis, Mahyar Heydarpour, Guillaume Lettre, Lasse Folkersen, Siddharth Prakash, Claudia Schurmann, Lars Fritsche, Gregory A Farnum, Maoxuan Lin, Mohammad Othman, Whitney Hornsby, Anisa Driscoll, Alexandra Levasseur, Marc Thomas, Linda Farhat, Marie-Pierre Dubé, Eric M Isselbacher, Anders Franco-Cereceda, Dong-Chuan Guo, Erwin P Bottinger, G Michael Deeb, Anna Booher, Sachin Kheterpal, Y Eugene Chen, Hyun Min Kang, Jacob Kitzman, Heather J Cordell, Bernard D Keavney, Judith A Goodship, Santhi K Ganesh, Gonçalo Abecasis, Kim A Eagle, Alan P Boyle, Ruth J F Loos, Per Eriksson, Jean-Claude Tardif, Chad M Brummett, Dianna M Milewicz, Simon C Body, Cristen J Willer
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors...
May 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28541066/the-genetic-architecture-of-oral-language-reading-fluency-and-reading-comprehension-a-twin-study-from-7-to-16-years
#7
Maria G Tosto, Marianna E Hayiou-Thomas, Nicole Harlaar, Elizabeth Prom-Wormley, Philip S Dale, Robert Plomin
This study examines the genetic and environmental etiology underlying the development of oral language and reading skills, and the relationship between them, over a long period of developmental time spanning middle childhood and adolescence. It focuses particularly on the differential relationship between language and two different aspects of reading: reading fluency and reading comprehension. Structural equation models were applied to language and reading data at 7, 12, and 16 years from the large-scale TEDS twin study...
June 2017: Developmental Psychology
https://www.readbyqxmd.com/read/28541064/stability-and-change-in-etiological-factors-for-alcohol-use-disorder-and-major-depression
#8
Fartein Ask Torvik, Tom Henrik Rosenström, Eivind Ystrom, Kristian Tambs, Espen Røysamb, Nikolai Czajkowski, Nathan Gillespie, Gun Peggy Knudsen, Kenneth S Kendler, Ted Reichborn-Kjennerud
Alcohol use disorder (AUD) and major depressive disorder (MDD) are often comorbid. It is not understood how genetic risk factors for these disorders relate to each other over time and to what degree they are stable. Age-dependent characteristics of the disorders indicate that different genetic factors could be relevant at different stages of life, and MDD may become increasingly correlated with AUD over time. DSM-IV diagnoses of AUD and MDD were assessed by interviews of 2,801 young adult twins between 1999 and 2004 (T1) and 2,284 of the same twins between 2010 and 2011 (T2)...
May 25, 2017: Journal of Abnormal Psychology
https://www.readbyqxmd.com/read/28540892/aldosterone-synthase-gene-is-not-a-major-susceptibility-gene-for-progression-of-chronic-kidney-disease-in-patients-with-autosomal-dominant-polycystic-kidney-disease
#9
Gnanasambandan Ramanathan, Ramprasad Elumalai, Soundararajan Periyasamy, Bhaskar V K S Lakkakula
Autosomal dominant polycystic kidney disease (ADPKD) is the most common heritable kidney disease and is characterized by bilateral renal cysts. Hypertension is a frequent cause of chronic kidney disease (CKD) and mortality in patients with ADPKD. The aldosterone synthase gene polymorphisms of the renin-angiotensin-aldosterone system have been extensively studied as hypertension candidate genes. The present study is aimed to investigate the potential modifier effect of CYP11B2 gene on the progression of CKD in ADPKD...
May 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28537275/a-rare-variant-test-for-high-dimensional-data
#10
Marika Kaakinen, Reedik Mägi, Krista Fischer, Jani Heikkinen, Marjo-Riitta Järvelin, Andrew P Morris, Inga Prokopenko
Genome-wide association studies have facilitated the discovery of thousands of loci for hundreds of phenotypes. However, the issue of missing heritability remains unsolved for most complex traits. Locus discovery could be enhanced with both improved power through multi-phenotype analysis (MPA) and use of a wider allele frequency range, including rare variants (RVs). MPA methods for single-variant association have been proposed, but given their low power for RVs, more efficient approaches are required. We propose multi-phenotype analysis of rare variants (MARV), a burden test-based method for RVs extended to the joint analysis of multiple phenotypes through a powerful reverse regression technique...
May 24, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28537267/meta-analysis-identifies-five-novel-loci-associated-with-endometriosis-highlighting-key-genes-involved-in-hormone-metabolism
#11
Yadav Sapkota, Valgerdur Steinthorsdottir, Andrew P Morris, Amelie Fassbender, Nilufer Rahmioglu, Immaculata De Vivo, Julie E Buring, Futao Zhang, Todd L Edwards, Sarah Jones, Dorien O, Daniëlle Peterse, Kathryn M Rexrode, Paul M Ridker, Andrew J Schork, Stuart MacGregor, Nicholas G Martin, Christian M Becker, Sosuke Adachi, Kosuke Yoshihara, Takayuki Enomoto, Atsushi Takahashi, Yoichiro Kamatani, Koichi Matsuda, Michiaki Kubo, Gudmar Thorleifsson, Reynir T Geirsson, Unnur Thorsteinsdottir, Leanne M Wallace, Jian Yang, Digna R Velez Edwards, Mette Nyegaard, Siew-Kee Low, Krina T Zondervan, Stacey A Missmer, Thomas D'Hooghe, Grant W Montgomery, Daniel I Chasman, Kari Stefansson, Joyce Y Tung, Dale R Nyholt
Endometriosis is a heritable hormone-dependent gynecological disorder, associated with severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely unknown. Here we perform a meta-analysis of 11 genome-wide association case-control data sets, totalling 17,045 endometriosis cases and 191,596 controls. In addition to replicating previously reported loci, we identify five novel loci significantly associated with endometriosis risk (P<5 × 10(-8)), implicating genes involved in sex steroid hormone pathways (FN1, CCDC170, ESR1, SYNE1 and FSHB)...
May 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28537254/large-scale-meta-analysis-characterizes-genetic-architecture-for-common-psoriasis-associated-variants
#12
Lam C Tsoi, Philip E Stuart, Chao Tian, Johann E Gudjonsson, Sayantan Das, Matthew Zawistowski, Eva Ellinghaus, Jonathan N Barker, Vinod Chandran, Nick Dand, Kristina Callis Duffin, Charlotta Enerbäck, Tõnu Esko, Andre Franke, Dafna D Gladman, Per Hoffmann, Külli Kingo, Sulev Kõks, Gerald G Krueger, Henry W Lim, Andres Metspalu, Ulrich Mrowietz, Sören Mucha, Proton Rahman, Andre Reis, Trilokraj Tejasvi, Richard Trembath, John J Voorhees, Stephan Weidinger, Michael Weichenthal, Xiaoquan Wen, Nicholas Eriksson, Hyun M Kang, David A Hinds, Rajan P Nair, Gonçalo R Abecasis, James T Elder
Psoriasis is a complex disease of skin with a prevalence of about 2%. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for psoriasis to date, including data from eight different Caucasian cohorts, with a combined effective sample size >39,000 individuals. We identified 16 additional psoriasis susceptibility loci achieving genome-wide significance, increasing the number of identified loci to 63 for European-origin individuals. Functional analysis highlighted the roles of interferon signalling and the NFκB cascade, and we showed that the psoriasis signals are enriched in regulatory elements from different T cells (CD8(+) T-cells and CD4(+) T-cells including TH0, TH1 and TH17)...
May 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28536874/-genetic-findings-in-autism-spectrum-disorders
#13
REVIEW
C M Freitag
Autism spectrum disorders (ASD) are pervasive developmental disorders comprising problems in social interaction, communication, and stereotyped behavior and interests. They show a prevalence of around 0.8% in children, adolescents, and adults, and a skewed sex distribution (about 4:1 = male:female). ASD are predominantly genetically determined disorders. Heritability estimates from twin studies range between 64 and 91%. Recurrence risk in siblings is 20-fold elevated. De novo and inherited monogenetic disorders, mutations, sex chromosomal abnormalities, cytogenetic and imprinting disorders as well as common variants are associated with ASD...
May 23, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28536599/a-pragmatic-test-for-detecting-association-between-a-dichotomous-trait-and-the-genotypes-of-affected-families-controls-and-independent-cases
#14
Meng Wang, William C L Stewart
The efficient analysis of hybrid designs [e.g., affected families, controls, and (optionally) independent cases] is attractive because it should have increased power to detect associations between genetic variants and disease. However, the computational complexity of such an analysis is not trivial, especially when the data contain pedigrees of arbitrary size and structure. To address this concern, we developed a pragmatic test of association that summarizes all of the available evidence in certain hybrid designs, irrespective of pedigree size or structure...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28535768/parent-offspring-regression-to-estimate-the-heritability-of-an-hiv-1-trait-in-a-realistic-setup
#15
Nadine Bachmann, Teja Turk, Claus Kadelka, Alex Marzel, Mohaned Shilaih, Jürg Böni, Vincent Aubert, Thomas Klimkait, Gabriel E Leventhal, Huldrych F Günthard, Roger Kouyos
BACKGROUND: Parent-offspring (PO) regression is a central tool to determine the heritability of phenotypic traits; i.e., the relative extent to which those traits are controlled by genetic factors. The applicability of PO regression to viral traits is unclear because the direction of viral transmission-who is the donor (parent) and who is the recipient (offspring)-is typically unknown and viral phylogenies are sparsely sampled. METHODS: We assessed the applicability of PO regression in a realistic setting using Ornstein-Uhlenbeck simulated data on phylogenies built from 11,442 Swiss HIV Cohort Study (SHCS) partial pol sequences and set-point viral load (SPVL) data from 3293 patients...
May 23, 2017: Retrovirology
https://www.readbyqxmd.com/read/28535729/quantitative-genetics-of-circulating-hyaluronic-acid-ha-and-its-correlation-with-hand-osteoarthritis-and-obesity-related-phenotypes-in-a-community-based-sample
#16
Jai Prakash, Gulzhan Gabdulina, Svetlana Trofimov, Gregory Livshits
BACKGROUND: One of the potential molecular biomarkers of osteoarthritis (OA) is hyaluronic acid (HA). HA levels may be related to the severity and progression of OA. However, little is known about the contribution of major risk factors for osteoarthritis, e.g., obesity-related phenotypes and genetics to HA variation. AIM: To clarify the quantitative effect of these factors on HA. METHODS: An ethnically homogeneous sample of 911 apparently healthy European-derived individuals, assessed for radiographic hand osteoarthritis (RHOA), HA, leptin, adiponectin, and several anthropometrical measures of obesity-related phenotypes...
May 24, 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/28534238/a-fast-algorithm-for-bayesian-multi-locus-model-in-genome-wide-association-studies
#17
Weiwei Duan, Yang Zhao, Yongyue Wei, Sheng Yang, Jianling Bai, Sipeng Shen, Mulong Du, Lihong Huang, Zhibin Hu, Feng Chen
Genome-wide association studies (GWAS) have identified a large amount of single-nucleotide polymorphisms (SNPs) associated with complex traits. A recently developed linear mixed model for estimating heritability by simultaneously fitting all SNPs suggests that common variants can explain a substantial fraction of heritability, which hints at the low power of single variant analysis typically used in GWAS. Consequently, many multi-locus shrinkage models have been proposed under a Bayesian framework. However, most use Markov Chain Monte Carlo (MCMC) algorithm, which are time-consuming and challenging to apply to GWAS data...
May 22, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28534048/the-first-report-of-cadasil-in-peru-olfactory-dysfunction-on-initial-presentation
#18
Anastasia Vishnevetsky, Miguel Inca-Martinez, Karina Milla-Neyra, Danny Moises Barrientos-Iman, Ivan Cornejo-Herrera, Carlos Cosentino, Mario Cornejo-Olivas
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits...
December 2016: ENeurologicalSci
https://www.readbyqxmd.com/read/28534046/genetic-analysis-of-age-at-onset-variation-in-spinocerebellar-ataxia-type-2
#19
K P Figueroa, Hilary Coon, Nieves Santos, Luis Velazquez, Luis Almaguer Mederos, Stefan-M Pulst
OBJECTIVE: To examine heritability of the residual variability of spinocerebellar ataxia type 2 (SCA2) age at onset (AO) after controlling for CAG repeat length. METHODS: From 1955 to 2001, dates of birth, CAG repeat lengths, AO, sex, familial inheritances, and clinical manifestations were collected for a large Cuban SCA2 cohort of 382 affected individuals, including 129 parent-child pairs and 69 sibships. Analyses were performed with log-transformed AO in the GENMOD procedure to predict AO using repeat length, taking into account family structure...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28533738/genetics-of-tinnitus-still-in-its-infancy
#20
REVIEW
Barbara Vona, Indrajit Nanda, Wafaa Shehata-Dieler, Thomas Haaf
Tinnitus is the perception of a phantom sound that affects between 10 and 15% of the general population. Despite this considerable prevalence, treatments for tinnitus are presently lacking. Tinnitus exhibits a diverse array of recognized risk factors and extreme clinical heterogeneity. Furthermore, it can involve an unknown number of auditory and non-auditory networks and molecular pathways. This complex combination has hampered advancements in the field. The identification of specific genetic factors has been at the forefront of several research investigations in the past decade...
2017: Frontiers in Neuroscience
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