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Mendelian disease

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https://www.readbyqxmd.com/read/28095459/association-of-body-mass-index-with-dna-methylation-and-gene-expression-in-blood-cells-and-relations-to-cardiometabolic-disease-a-mendelian-randomization-approach
#1
Michael M Mendelson, Riccardo E Marioni, Roby Joehanes, Chunyu Liu, Åsa K Hedman, Stella Aslibekyan, Ellen W Demerath, Weihua Guan, Degui Zhi, Chen Yao, Tianxiao Huan, Christine Willinger, Brian Chen, Paul Courchesne, Michael Multhaup, Marguerite R Irvin, Ariella Cohain, Eric E Schadt, Megan L Grove, Jan Bressler, Kari North, Johan Sundström, Stefan Gustafsson, Sonia Shah, Allan F McRae, Sarah E Harris, Jude Gibson, Paul Redmond, Janie Corley, Lee Murphy, John M Starr, Erica Kleinbrink, Leonard Lipovich, Peter M Visscher, Naomi R Wray, Ronald M Krauss, Daniele Fallin, Andrew Feinberg, Devin M Absher, Myriam Fornage, James S Pankow, Lars Lind, Caroline Fox, Erik Ingelsson, Donna K Arnett, Eric Boerwinkle, Liming Liang, Daniel Levy, Ian J Deary
BACKGROUND: The link between DNA methylation, obesity, and adiposity-related diseases in the general population remains uncertain. METHODS AND FINDINGS: We conducted an association study of body mass index (BMI) and differential methylation for over 400,000 CpGs assayed by microarray in whole-blood-derived DNA from 3,743 participants in the Framingham Heart Study and the Lothian Birth Cohorts, with independent replication in three external cohorts of 4,055 participants...
January 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28095098/reduced-penetrance-in-a-large-caucasian-pedigree-with-stickler-syndrome
#2
Stuart W Tompson, Charles Johnson, Diana Abbott, Benjamin Bakall, Vincent Soler, Tammy L Yanovitch, Kristina N Whisenhunt, Thomas Klemm, Steve Rozen, Edwin M Stone, Max Johnson, Terri L Young
BACKGROUND: In a four-generation Caucasian family variably diagnosed with autosomal dominant (AD) Stickler or Wagner disease, commercial gene screening failed to identify a mutation in COL2A1 or VCAN. We utilized linkage mapping and exome sequencing to identify the causal variant. MATERIALS AND METHODS: Genomic DNA samples collected from 40 family members were analyzed. A whole-genome linkage scan was performed using Illumina HumanLinkage-24 BeadChip followed by two-point and multipoint linkage analyses using FASTLINK and MERLIN...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28087950/amyloid-prions-in-fungi
#3
Sven J Saupe, Daniel F Jarosz, Heather L True
Prions are infectious protein polymers that have been found to cause fatal diseases in mammals. Prions have also been identified in fungi (yeast and filamentous fungi), where they behave as cytoplasmic non-Mendelian genetic elements. Fungal prions correspond in most cases to fibrillary β-sheet-rich protein aggregates termed amyloids. Fungal prion models and, in particular, yeast prions were instrumental in the description of fundamental aspects of prion structure and propagation. These models established the "protein-only" nature of prions, the physical basis of strain variation, and the role of a variety of chaperones in prion propagation and amyloid aggregate handling...
December 2016: Microbiology Spectrum
https://www.readbyqxmd.com/read/28078998/lipoprotein-a-management-pharmacological-and-apheretic-treatment
#4
Ruth Hanssen, Ioanna Gouni-Berthold
Lipoprotein (a) [Lp(a)] is an low-density lipoprotein (LDL)-like particle with an additional apolipoprotein, apolipoprotein (a), [apo(a)] attached to apolipoprotein B. Recent epidemiologic and Mendelian randomization studies have provided evidence that Lp(a) is causally related to the pathogenesis of atherosclerosis and cardiovascular disease (CVD). The risk association between Lp(a) concentrations and CVD is still controversial but seems to be continuous and without an obvious threshold Lp(a) level. Circulating concentrations of Lp(a) are genetically determined; desirable levels are amplt; 50 mg/dl...
January 12, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28073764/causal-effect-of-genetic-variants-associated-with-body-mass-index-on-multiple-sclerosis-susceptibility
#5
Milena A Gianfrancesco, M Maria Glymour, Stefan Walter, Brooke Rhead, Xiaorong Shao, Ling Shen, Hong Quach, Alan Hubbard, Ingileif Jónsdóttir, Kári Stefánsson, Pernilla Strid, Jan Hillert, Anna Hedström, Tomas Olsson, Ingrid Kockum, Catherine Schaefer, Lars Alfredsson, Lisa F Barcellos
Multiple sclerosis (MS) is an autoimmune disease with both genetic and environmental risk factors. Recent studies indicate that childhood and adolescent obesity double the risk of MS, but this association may reflect unmeasured confounders rather than causal effects of obesity. We used separate-sample Mendelian randomization to estimate the causal effect of body mass index (BMI) on susceptibility to MS. Using data from non-Hispanic white members of the Kaiser Permanente Medical Care Plan of Northern California (KPNC) (2006-2014; 1,104 cases of MS and 10,536 controls) and a replication data set from Sweden (the Epidemiological Investigation of MS (EIMS) and the Genes and Environment in MS (GEMS) studies, 2005-2013; 5,133 MS cases and 4,718 controls), we constructed a weighted genetic risk score using 97 variants previously established to predict BMI...
January 9, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28066631/serum-uric-acid-levels-and-cardiovascular-disease-the-gordian-knot
#6
COMMENT
Efrén Martínez-Quintana, Antonio Tugores, Fayna Rodríguez-González
Hyperuricemia is defined as serum uric acid level of more than 7 mg/dL and blood levels of uric acid are causally associated with gout, as implicated by evidence from randomized clinical trials using urate lowering therapies. Uric acid as a cardiovascular risk factor often accompanies metabolic syndrome, hypertension, diabetes, dyslipidemia, chronic renal disease, and obesity. Despite the association of hyperuricemia with cardiovascular risk factors, it has remained controversial as to whether uric acid is an independent predictor of cardiovascular disease...
November 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28063740/high-density-lipoproteins-biology-epidemiology-and-clinical-management
#7
REVIEW
Hong Y Choi, Anouar Hafiane, Adel Schwertani, Jacques Genest
High-density lipoproteins (HDLs) have multiple pleiotropic effects against arteriosclerosis. Most are independent of the cholesterol mass within HDL particles. Yet, HDL cholesterol (HDL-C) remains a biomarker to assess cardiovascular risk. Whereas the epidemiological association between HDL-C and cardiovascular risk is strong, graded and coherent across populations, Mendelian randomization studies cast doubt on whether HDL-C is causally related to atherosclerotic cardiovascular disease. The apparent failure of HDL-C-raising therapies (fibrates, niacin, and cholesteryl ester transfer protein inhibitors) raises questions about the HDL-C hypothesis...
October 20, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28063110/toward-the-next-step-in-g-protein-coupled-receptor-research-a-knowledge-driven-analysis-for-the-next-potential-targets-in-drug-discovery
#8
Koji Nagata, Yukie Katayama, Tomomi Sato, Yeondae Kwon, Takeshi Kawabata
More than 800 G protein-coupled receptor (GPCR) genes have been discovered in the human genome. Towards the next step in GPCR research, we performed a knowledge-driven analysis of orphan class-A GPCRs that may serve as novel targets in drug discovery. We examined the relationship between 61 orphan class-A GPCR genes and diseases using the Online Mendelian Inheritance in Man (OMIM) database and the DDSS tool. The OMIM database contains data on disease-related variants of the genes. Particularly, the variants of GPR101, GPR161, and GPR88 are related to the genetic diseases: growth hormone-secreting pituitary adenoma 2, pituitary stalk interruption syndrome (not confirmed), and childhood-onset chorea with psychomotor retardation, respectively...
January 6, 2017: Journal of Structural and Functional Genomics
https://www.readbyqxmd.com/read/28055004/comprehensive-genotyping-in-dyslipidemia-mendelian-dyslipidemias-caused-by-rare-variants-and-mendelian-randomization-studies-using-common-variants
#9
REVIEW
Hayato Tada, Masa-Aki Kawashiri, Masakazu Yamagishi
Dyslipidemias, especially hyper-low-density lipoprotein cholesterolemia and hypertriglyceridemia, are important causal risk factors for coronary artery disease. Comprehensive genotyping using the 'next-generation sequencing' technique has facilitated the investigation of Mendelian dyslipidemias, in addition to Mendelian randomization studies using common genetic variants associated with plasma lipids and coronary artery disease. The beneficial effects of low-density lipoprotein cholesterol-lowering therapies on coronary artery disease have been verified by many randomized controlled trials over the years, and subsequent genetic studies have supported these findings...
January 5, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28054646/an-analysis-of-disease-gene-relationship-from-medline-abstracts-by-digsee
#10
Jeongkyun Kim, Jung-Jae Kim, Hyunju Lee
Diseases are developed by abnormal behavior of genes in biological events such as gene regulation, mutation, phosphorylation, and epigenetics and post-translational modification. Many studies of text mining attempted to identify the relationship between gene and disease by mining the literature, but they did not consider the biological events in which genes show abnormal behaviour in response to diseases. In this study, we propose to identify disease-related genes that are involved in the development of disease through biological events from Medline abstracts...
January 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28053046/properties-of-human-disease-genes-and-the-role-of-genes-linked-to-mendelian-disorders-in-complex-disease-aetiology
#11
Nino Spataro, Juan Antonio Rodríguez, Arcadi Navarro, Elena Bosch
Do genes presenting variation that has been linked to human disease have different biological properties than genes that have never been related to disease? What is the relationship between disease and fitness? Are the evolutionary pressures that affect genes linked to Mendelian diseases the same to those acting on genes whose variation contributes to complex disorders? The answers to these questions could shed light on the architecture of human genetic disorders and may have relevant implications when designing mapping strategies in future genetic studies...
January 4, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28049019/the-causal-role-of-smoking-on-the-risk-of-hip-or-knee-replacement-due-to-primary-osteoarthritis-a-mendelian-randomisation-analysis-of-the-hunt-study
#12
M B Johnsen, G Å Vie, B S Winsvold, J H Bjørngaard, B O Åsvold, M E Gabrielsen, L M Pedersen, A I Hellevik, A Langhammer, O Furnes, G B Flugsrud, F Skorpen, P R Romundstad, K Storheim, L Nordsletten, J A Zwart
OBJECTIVE: Smoking has been associated with a reduced risk of hip and knee osteoarthritis (OA) and subsequent joint replacement. The aim of the present study was to assess whether the observed association is likely to be causal. METHOD: 55,745 participants of a population-based cohort were genotyped for the rs1051730 C > T single-nucleotide polymorphism (SNP), a proxy for smoking quantity among smokers. A Mendelian randomization analysis was performed using rs1051730 as an instrument to evaluate the causal role of smoking on the risk of hip or knee replacement (combined as total joint replacement (TJR))...
January 1, 2017: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/28045017/protective-effects-of-intercalated-disk-protein-afadin-on-chronic-pressure-overload-induced-myocardial-damage
#13
Dimitar P Zankov, Akio Shimizu, Miki Tanaka-Okamoto, Jun Miyoshi, Hisakazu Ogita
Adhesive intercellular connections at cardiomyocyte intercalated disks (IDs) support contractile force and maintain structural integrity of the heart muscle. Disturbances of the proteins at IDs deteriorate cardiac function and morphology. An adaptor protein afadin, one of the components of adherens junctions, is expressed ubiquitously including IDs. At present, the precise role of afadin in cardiac physiology or disease is unknown. To explore this, we generated conditional knockout (cKO) mice with cardiomyocyte-targeted deletion of afadin...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28039284/defining-categories-of-actionability-for-secondary-findings-in-next-generation-sequencing
#14
Celine Moret, Alex Mauron, Siv Fokstuen, Periklis Makrythanasis, Samia A Hurst
Next-generation sequencing is increasingly used in clinical practice for the diagnosis of Mendelian diseases. Because of the high likelihood of secondary findings associated with this technique, the process of informing patients is beset with new challenges. One of them is regarding the type of secondary findings that ought to be disclosed to patients. The aim of this research is to propose a practical implementation of the notion of actionability, a common criteria justifying the disclosure of secondary findings but whose interpretation varies greatly among professionals...
December 30, 2016: Journal of Medical Ethics
https://www.readbyqxmd.com/read/28035777/mendelian-disorders-of-cornification-caused-by-defects-in-intracellular-calcium-pumps-mutation-update-and-database-for-variants-in-atp2a2-and-atp2c1-associated-with-darier-disease-and-hailey-hailey-disease
#15
Ruud G L Nellen, Peter M Steijlen, Maurice A M van Steensel, Maaike Vreeburg, Jorge Frank, Michel van Geel
The two disorders of cornification associated with mutations in genes coding for intracellular calcium pumps are Darier Disease (DD) and Hailey-Hailey Disease (HHD). DD is caused by mutations in the ATP2A2 gene, while the ATP2C1 gene is associated with HHD. Both are inherited as autosomal dominant traits. DD is mainly defined by warty papules in seborrheic and flexural areas, whereas the major symptoms of HHD are vesicles and erosions in flexural skin. Both phenotypes are highly variable. In 12- 40% of DD patients and 12-55% of HHD patients, no mutations in ATP2A2 or ATP2C1 are found...
December 30, 2016: Human Mutation
https://www.readbyqxmd.com/read/28031317/coffee-intake-cardiovascular-disease-and-all-cause-mortality-observational-and-mendelian-randomization-analyses-in-95%C3%A2-000-223%C3%A2-000-individuals
#16
Ask Tybjærg Nordestgaard, Børge Grønne Nordestgaard
BACKGROUND: Coffee has been associated with modestly lower risk of cardiovascular disease and all-cause mortality in meta-analyses; however, it is unclear whether these are causal associations. We tested first whether coffee intake is associated with cardiovascular disease and all-cause mortality observationally; second, whether genetic variations previously associated with caffeine intake are associated with coffee intake; and third, whether the genetic variations are associated with cardiovascular disease and all-cause mortality...
December 28, 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28031081/restrictive-cardiomyopathy-resulting-from-a-troponin-i-type-3-mutation-in-a-chinese-family
#17
Yan-Ping Ruan, Chao-Xia Lu, Xiao-Yi Zhao, Rui-Juan Liang, Hui Lian, Michael Routledge, Wei Wu, Xue Zhang, Zhong-Jie Fan
Objective To identify the pathogenic variant responsible for restrictive cardiomyopathy (RCM) in a Chinese family.Methods Next generation sequencing was used for detecting the mutation and Results verified by sequencing. We used restriction enzyme digestion to test the mutation in the family members and 200 unrelated normal subjects without any cardiac inherited diseases when the mutation was identified.Results Five individuals died from cardiac diseases, two of whom suffered from sudden cardiac death. Two individuals have suffered from chronic cardiac disorders...
March 20, 2016: Chinese Medical Sciences Journal, Chung-kuo i Hsüeh K'o Hsüeh Tsa Chih
https://www.readbyqxmd.com/read/28025256/commentary-mendelian-randomization-inspired-causal-inference-in-the-absence-of-genetic-data
#18
Luisa Zuccolo, Michael V Holmes
Studying the long-term causal effects of alcohol drinking is notoriously difficult. Epidemiological studies that use conventional analytical approaches are likely to be confounded and affected by reporting/recall bias and reverse causality, specifically in the form of the sick quitter effect (individuals quitting or never starting to consume alcohol due to underlying ill health).(1) Decades of observational data showing J-shaped relationships of alcohol with risk of disease and in particular cardiovascular disease,(2) fuelled by confirmation bias, have resulted in alcohol policies such that individuals are recommended to drink in moderation, due to putative cardioprotective effects...
December 26, 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28018446/familial-mediterranean-fever-presenting-as-fever-of-unknown-origin-in-korea
#19
Jun Hee Lee, Jong Hyun Kim, Jung Ok Shim, Kwang Chul Lee, Joo Won Lee, Jung Hwa Lee, Jae Jin Chae
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28011069/alanine-scanning-mutagenesis-of-human-signal-transducer-and-activator-of-transcription-1-to-estimate-loss-or-gain-of-function-variants
#20
Reiko Kagawa, Ryoji Fujiki, Miyuki Tsumura, Sonoko Sakata, Shiho Nishimura, Yuval Itan, Xiao-Fei Kong, Zenichiro Kato, Hidenori Ohnishi, Osamu Hirata, Satoshi Saito, Maiko Ikeda, Jamila El Baghdadi, Aziz Bousfiha, Kaori Fujiwara, Matias Oleastro, Judith Yancoski, Laura Perez, Silvia Danielian, Fatima Ailal, Hidetoshi Takada, Toshiro Hara, Anne Puel, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Osamu Ohara, Satoshi Okada, Masao Kobayashi
BACKGROUND: Germline heterozygous mutations in human signal transducer and activator of transcription 1 (STAT1) can cause loss of function (LOF), as in patients with Mendelian susceptibility to mycobacterial diseases, or gain of function (GOF), as in patients with chronic mucocutaneous candidiasis. LOF and GOF mutations are equally rare and can affect the same domains of STAT1, especially the coiled-coil domain (CCD) and DNA-binding domain (DBD). Moreover, 6% of patients with chronic mucocutaneous candidiasis with a GOF STAT1 mutation have mycobacterial disease, obscuring the functional significance of the identified STAT1 mutations...
December 14, 2016: Journal of Allergy and Clinical Immunology
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