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https://www.readbyqxmd.com/read/28729448/network-mendelian-randomization-study-design-to-assess-factors-mediating-the-causal-link-between-telomere-length-and-heart-disease
#1
EDITORIAL
R Garrett Morgan
No abstract text is available yet for this article.
July 21, 2017: Circulation Research
https://www.readbyqxmd.com/read/28726810/a-randomized-controlled-trial-of-disclosing-genetic-risk-information-for-alzheimer-disease-via-telephone
#2
Kurt D Christensen, Wendy R Uhlmann, J Scott Roberts, Erin Linnenbringer, Peter J Whitehouse, Charmaine D M Royal, Thomas O Obisesan, L Adrienne Cupples, Melissa B Butson, Grace-Ann Fasaye, Susan Hiraki, Clara A Chen, Uwe Siebert, Robert Cook-Deegan, Robert C Green
PurposeTelephone disclosure of genetic test results can improve access to services. To date, studies of its impact have focused on return of Mendelian risk information, principally hereditary cancer syndromes.MethodsIn a multisite trial of Alzheimer disease genetic risk disclosure, asymptomatic adults were randomized to receive test results in person or via telephone. Primary analyses examined patient outcomes 12 months after disclosure.ResultsData from 257 participants showed that telephone disclosure occurred 7...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28711986/single-nucleotide-polymorphisms-associated-with-reading-ability-show-connection-to-socio-economic-outcomes
#3
Michelle Luciano, Saskia P Hagenaars, Simon R Cox, William David Hill, Gail Davies, Sarah E Harris, Ian J Deary, David M Evans, Nicholas G Martin, Margaret J Wright, Timothy C Bates
Impairments in reading and in language have negative consequences on life outcomes, but it is not known to what extent genetic effects influence this association. We constructed polygenic scores for difficulties with language and learning to read from genome-wide data in ~6,600 children, adolescents and young adults, and tested their association with health, socioeconomic outcomes and brain structure measures collected in adults (maximal N = 111,749). Polygenic risk of reading difficulties was associated with reduced income, educational attainment, self-rated health and verbal-numerical reasoning (p < 0...
July 15, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/28709925/the-infinitesimal-model-definition-derivation-and-implications
#4
N H Barton, A M Etheridge, A Véber
Our focus here is on the infinitesimal model. In this model, one or several quantitative traits are described as the sum of a genetic and a non-genetic component, the first being distributed within families as a normal random variable centred at the average of the parental genetic components, and with a variance independent of the parental traits. Thus, the variance that segregates within families is not perturbed by selection, and can be predicted from the variance components. This does not necessarily imply that the trait distribution across the whole population should be Gaussian, and indeed selection or population structure may have a substantial effect on the overall trait distribution...
July 11, 2017: Theoretical Population Biology
https://www.readbyqxmd.com/read/28701353/known-and-unknowns-in-the-care-of-paediatric-familial-hypercholesterolaemia
#5
Andrew C Martin, Samuel S Gidding, Albert Wiegman, Gerald F Watts
Familial hypercholesterolaemia (FH) is a common genetic disorder that causes elevated low-density lipoprotein (LDL)-cholesterol levels from birth. Untreated FH accelerates atherosclerosis and predisposes individuals to premature coronary artery disease (CAD) in adulthood. Mendelian randomization studies have demonstrated that LDL-cholesterol has both a causal and cumulative effect on the risk of CAD. This supports clinical recommendations that children with FH commence pharmacological treatment from age 8-10 years, to reduce the burden of hypercholesterolaemia...
July 12, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28684612/the-effect-of-iron-status-on-risk-of-coronary-artery-disease-a-mendelian-randomization-study
#6
Dipender Gill, Fabiola Del Greco M, Ann P Walker, Surjit K S Srai, Michael A Laffan, Cosetta Minelli
OBJECTIVE: Iron status is a modifiable trait that has been implicated in cardiovascular disease. This study uses the Mendelian randomization technique to investigate whether there is any causal effect of iron status on risk of coronary artery disease (CAD). APPROACH AND RESULTS: A 2-sample Mendelian randomization approach is used to estimate the effect of iron status on CAD risk. Three loci (rs1800562 and rs1799945 in the HFE gene and rs855791 in TMPRSS6) that are each associated with serum iron, transferrin saturation, ferritin, and transferrin in a pattern suggestive of an association with systemic iron status are used as instruments...
July 6, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28678979/association-of-body-mass-index-with-cardiometabolic-disease-in-the-uk-biobank-a-mendelian-randomization-study
#7
Donald M Lyall, Carlos Celis-Morales, Joey Ward, Stamatina Iliodromiti, Jana J Anderson, Jason M R Gill, Daniel J Smith, Uduakobong Efanga Ntuk, Daniel F Mackay, Michael V Holmes, Naveed Sattar, Jill P Pell
Importance: Higher body mass index (BMI) is a risk factor for cardiometabolic disease; however, the underlying causal associations remain unclear. Objectives: To use UK Biobank data to report causal estimates of the association between BMI and cardiometabolic disease outcomes and traits, such as pulse rate, using mendelian randomization. Design, Setting, and Participants: Cross-sectional baseline data from a population-based cohort study including 119 859 UK Biobank participants with complete phenotypic (medical and sociodemographic) and genetic data...
July 5, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28675761/estimating-the-causal-effect-of-body-mass-index-on-hay-fever-asthma-and-lung-function-using-mendelian-randomization
#8
Tea Skaaby, Amy E Taylor, Betina H Thuesen, Rikke K Jacobsen, Nele Friedrich, Line Tang Møllehave, Susanne Hansen, Sofus C Larsen, Uwe Völker, Matthias Nauck, Henry Völzke, Torben Hansen, Oluf Pedersen, Torben Jørgensen, Lavinia Paternoster, Marcus Munafò, Niels Grarup, Allan Linneberg
BACKGROUND: Observational studies have shown that body mass index (BMI) is positively associated with asthma. However, observational data are prone to confounding and reverse causation. In Mendelian randomization, genetic variants are used as un-confounded markers of exposures to examine causal effects. We examined the causal effect of BMI on asthma, hay fever, allergic sensitization, serum total immunoglobulin E (IgE), forced expiratory volume in one second (FEV1), and forced vital capacity (FVC)...
July 4, 2017: Allergy
https://www.readbyqxmd.com/read/28668249/vitamin-d-and-asthma-a-mendelian-randomization-study
#9
Yong Mao, Yiqiang Zhan, Yixiang Huang
No abstract text is available yet for this article.
July 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28667182/type-2-diabetes-glucose-insulin-bmi-and-ischemic-stroke-subtypes-mendelian-randomization-study
#10
Susanna C Larsson, Robert A Scott, Matthew Traylor, Claudia C Langenberg, George Hindy, Olle Melander, Marju Orho-Melander, Sudha Seshadri, Nicholas J Wareham, Hugh S Markus
OBJECTIVE: To implement a mendelian randomization (MR) approach to determine whether type 2 diabetes mellitus (T2D), fasting glucose, fasting insulin, and body mass index (BMI) are causally associated with specific ischemic stroke subtypes. METHODS: MR estimates of the association between each possible risk factor and ischemic stroke subtypes were calculated with inverse-variance weighted (conventional) and weighted median approaches, and MR-Egger regression was used to explore pleiotropy...
June 30, 2017: Neurology
https://www.readbyqxmd.com/read/28664250/erratum-to-interpreting-findings-from-mendelian-randomization-using-the-mr-egger-method
#11
Stephen Burgess, Simon G Thompson
No abstract text is available yet for this article.
June 29, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28656970/association-studies-of-genetic-scores-of-serum-vitamin-b12-and-folate-levels-with-symptoms-of-depression-and-anxiety-in-two-danish-population-studies
#12
L T Møllehave, T Skaaby, K S Simonsen, B H Thuesen, E L Mortensen, C H Sandholt, O Pedersen, N Grarup, T Hansen, A Linneberg
BACKGROUND/OBJECTIVES: Observational studies have suggested low serum levels of vitamin B12 or folate to be risk factors of depression and anxiety. However, these results may be biased by confounding and reverse causation. Mendelian randomization studies are not subject to these limitations. The aim was to examine the association of genetic scores of vitamin B12 and folate-associated alleles with depression and anxiety. SUBJECTS/METHODS: The study included 4126 participants from two Danish population-based studies...
June 28, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28654958/the-impact-of-whole-genome-sequencing-on-the-primary-care-and-outcomes-of-healthy-adult-patients-a-pilot-randomized-trial
#13
Jason L Vassy, Kurt D Christensen, Erica F Schonman, Carrie L Blout, Jill O Robinson, Joel B Krier, Pamela M Diamond, Matthew Lebo, Kalotina Machini, Danielle R Azzariti, Dmitry Dukhovny, David W Bates, Calum A MacRae, Michael F Murray, Heidi L Rehm, Amy L McGuire, Robert C Green
Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value. Objective: To describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care. Design: Pilot randomized trial. (ClinicalTrials.gov: NCT01736566). Setting: Academic primary care practices. Participants: 9 primary care physicians (PCPs) and 100 generally healthy patients recruited at ages 40 to 65 years...
June 27, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28645627/does-higher-education-protect-against-obesity-evidence-using-mendelian-randomization
#14
Petri Böckerman, Jutta Viinikainen, Laura Pulkki-Råback, Christian Hakulinen, Niina Pitkänen, Terho Lehtimäki, Jaakko Pehkonen, Olli T Raitakari
OBJECTIVES: The aim of this explorative study was to examine the effect of education on obesity using Mendelian randomization. METHODS: Participants (N=2011) were from the on-going nationally representative Young Finns Study (YFS) that began in 1980 when six cohorts (aged 30, 33, 36, 39, 42 and 45 in 2007) were recruited. The average value of BMI (kg/m(2)) measurements in 2007 and 2011 and genetic information were linked to comprehensive register-based information on the years of education in 2007...
August 2017: Preventive Medicine
https://www.readbyqxmd.com/read/28645180/alcohol-metabolism-and-oesophageal-cancer-a-systematic-review-of-the-evidence
#15
Marco Matejcic, M J Gunter, Pietro Ferrari
Alcohol is a major risk factor for oesophageal squamous cell carcinoma (OSCC), the most prevalent histological subtype of oesophageal cancer (OC) worldwide. The metabolism of alcohol is regulated by specific enzymes whose activity and expression is influenced by genetic polymorphisms. We conducted a systematic review of current epidemiological evidence of the relationship between alcohol intake and OC risk, including the role of tobacco smoking and functional polymorphisms of dehydrogenases (ADHs) and aldehyde dehydrogenases (ALDHs)...
June 22, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28639078/a-genome-wide-expression-association-analysis-identifies-genes-and-pathways-associated-with-amyotrophic-lateral-sclerosis
#16
Yanan Du, Yan Wen, Xiong Guo, Jingcan Hao, Wenyu Wang, Awen He, Qianrui Fan, Ping Li, Li Liu, Xiao Liang, Feng Zhang
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with strong genetic components. To identity novel risk variants for ALS, utilizing the latest genome-wide association studies (GWAS) and eQTL study data, we conducted a genome-wide expression association analysis by summary data-based Mendelian randomization (SMR) method. Summary data were derived from a large-scale GWAS of ALS, involving 12577 cases and 23475 controls. The eQTL annotation dataset included 923,021 cis-eQTL for 14,329 genes and 4732 trans-eQTL for 2612 genes...
June 21, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28635950/genetically-predicted-high-body-mass-index-was-associated-with-increased-gastric-cancer-risk
#17
Yingying Mao, Caiwang Yan, Qun Lu, Meng Zhu, Fei Yu, Cheng Wang, Juncheng Dai, Hongxia Ma, Zhibin Hu, Hongbing Shen, Guangfu Jin
Epidemiological studies have linked body mass index (BMI) with risk of gastrointestinal cancers. However, for gastric cancer, the relationship is more controversial. In particular, it is unclear whether the observed association is due to confounding or bias inherent in conventional observational studies. To investigate whether BMI is causally associated with gastric cancer risk, we applied Mendelian randomization using individual-level data from 2631 gastric cancer cases and 4373 cancer-free controls. We derived a weighted genetic risk score (wGRS) using 37 BMI-associated genetic variants as an instrumental variable...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28632283/the-impact-of-whole-genome-sequencing-on-the-primary-care-and-outcomes-of-healthy-adult-patients-a-pilot-randomized-trial
#18
Jason L Vassy, Kurt D Christensen, Erica F Schonman, Carrie L Blout, Jill O Robinson, Joel B Krier, Pamela M Diamond, Matthew Lebo, Kalotina Machini, Danielle R Azzariti, Dmitry Dukhovny, David W Bates, Calum A MacRae, Michael F Murray, Heidi L Rehm, Amy L McGuire, Robert C Green
Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value. Objective: To describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care. Design: Pilot randomized trial. (ClinicalTrials.gov: NCT01736566). Setting: Academic primary care practices. Participants: 9 primary care physicians (PCPs) and 100 generally healthy patients recruited at ages 40 to 65 years...
June 27, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28627485/limitations-of-vitamin-d-supplementation-trials-why-observational-studies-will-continue-to-help-determine-the-role-of-vitamin-d-in-health
#19
REVIEW
Robert Scragg
Observational studies have shown that low vitamin D status is associated with an increased risk of a wide range of diseases. The body of observational evidence now is so large, that there have been many calls for randomized controlled trials (RCT) of vitamin D supplementation to confirm once and for all whether increasing body vitamin D levels prevents these diseases. These calls have arisen because of concern that confounding and reverse causation may explain many of the results from observational studies...
June 13, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28624884/age-at-menarche-and-lung-function-a-mendelian-randomization-study
#20
Dipender Gill, Nuala A Sheehan, Matthias Wielscher, Nick Shrine, Andre F S Amaral, John R Thompson, Raquel Granell, Bénédicte Leynaert, Francisco Gómez Real, Ian P Hall, Martin D Tobin, Juha Auvinen, Susan M Ring, Marjo-Riitta Jarvelin, Louise V Wain, John Henderson, Deborah Jarvis, Cosetta Minelli
A trend towards earlier menarche in women has been associated with childhood factors (e.g. obesity) and hypothesised environmental exposures (e.g. endocrine disruptors present in household products). Observational evidence has shown detrimental effects of early menarche on various health outcomes including adult lung function, but these might represent spurious associations due to confounding. To address this we used Mendelian randomization where genetic variants are used as proxies for age at menarche, since genetic associations are not affected by classical confounding...
June 17, 2017: European Journal of Epidemiology
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