Results 21 to 30 of about 245,577 (122)

Can we apply the Mendelian randomization methodology without considering epigenetic effects?

Emerging Themes in Epidemiology, 2009
Introduction Instrumental variable (IV) methods have been used in econometrics for several decades now, but have only recently been introduced into the epidemiologic research frameworks.
Karmaus Wilfried, Zhang Hongmei, Ogbuanu Ikechukwu U   +2 more
doaj   +1 more source

Variability in genes regulating vitamin D metabolism is associated with vitamin D levels in type 2 diabetes [PDF]

, 2018
Mortality rate is increased in type 2 diabetes (T2D). Low vitamin D levels are associated with increased mortality risk in T2D. In the general population, genetic variants affecting vitamin D metabolism (DHCR7 rs12785878, CYP2R1 rs10741657, GC rs4588 ...
Alessi, Elena, Bagella, FRANCESCO MARIA, Bailetti, Diego, Barchetta, Ilaria, Baroni Marco, Giorgio., Bertoccini, Laura, Buzzetti, Raffaella, Capoccia, Danila, Cavallo, Maria Gisella, Coccia, Federica, Conti, Francesco, Copetti, Massimiliano, Cossu, Efisio, D'Angelo, Paola, D'Onofrio, Luca, De Cosmo, Salvatore, Di Mauro, Lazzaro, Filardi, Tiziana, Gianluca, Margiotta, Giulia, Leanza, Incani, Michela, Leonetti, Frida, Maria Giovanna Scarale,, Morano, Susanna, Moretti, Chiara, Morviducci, Lelio, Napoli, Nicola, Pamela, Piscitelli, Pezzilli, Serena, Pibiri, Carlotta, Prudente, Sabrina, Pugliese, Giuseppe, Sentinelli, Federica, Silvia, Carletti, SUMMER Study in Diabetes Group (Summer,, Tavaglione, Federica, Trischitta, Vincenzo   +36 more
core   +1 more source

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. [PDF]

, 2018
Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA, and is a highly heritable, causal risk factor for cardiovascular diseases that varies in concentrations across ancestries. Here, we use
Alver, Maris, Bloom, Jonathan, Budoff, Matthew, Chaffin, Mark, Correa, Adolfo, Cupples, L Adrienne, Daly, Mark J, Engreitz, Jesse, Ernst, Jason, Esko, Tonu, Fu, Mao, Ganna, Andrea, Handsaker, Robert E, Johnson, W Craig, Kathiresan, Sekar, Kellis, Manolis, Manichaikul, Ani, McCarroll, Steven, Metspalu, Andres, Mitchell, Braxton D, Natarajan, Pradeep, Neale, Benjamin M, NHLBI TOPMed Lipids Working Group, Peloso, Gina M, Post, Wendy, Poterba, Timothy, Rich, Stephen S, Ripatti, Samuli, Rotter, Jerome I, Ruotsalainen, Sanni, Ryan, Kathleen A, Salomaa, Veikko, Seed, Cotton, Surakka, Ida, Tsai, Michael, Vasan, Ramachandran S, Wilson, James G, Yang, Chaojie, Zekavat, Seyedeh M   +38 more
core   +1 more source

Equus in Online Mendelian Inheritance in Animals (OMIA)

Animals
Online Mendelian Inheritance in Animals (OMIA is a freely available information resource, which includes information for Equus inherited traits/diseases (collectively called phenes).
Imke Tammen, Ernest Bailey, Marius Mather, Frank W. Nicholas   +3 more
doaj   +1 more source

Genome-wide association study identifies common and low-frequency variants at the AMHgene locus that strongly predict serum AMH levels in males [PDF]

, 2016
Anti-Müllerian hormone (AMH) is an essential messenger of sexual differentiation in the foetus and is an emerging biomarker of postnatal reproductive function in females.
Day, Felix R., Lawlor, Debbie A., McMahon, George, Nelson, Scott M., Perry, John R.B., Ring, Susan M.   +5 more
core   +1 more source

Causal relationship between obesity and iron deficiency anemia: a two-sample Mendelian randomization study

Frontiers in Public Health, 2023
BackgroundObservational studies have suggested an association between obesity and iron deficiency anemia, but such studies are susceptible to reverse causation and residual confounding.
Tingting Wang, Qi Gao, Yuanyuan Yao, Ge Luo, Tao Lv, Guangxin Xu, Mingxia Liu, Jingpin Xu, Xuejie Li, Dawei Sun, Zhenzhen Cheng, Ying Wang, Chaomin Wu, Ruiyu Wang, Jingcheng Zou, Min Yan   +15 more
doaj   +1 more source

Circulating Plasma Proteins as Biomarkers for Immunotherapy Toxicity: Insights from Proteome-Wide Mendelian Randomization and Bioinformatics Analysis

Biomedicines
Background: Immune checkpoint inhibitors (ICIs) have transformed cancer treatment, yet severe immune-related adverse events (irAEs) often necessitate immunotherapy discontinuation and cause life-threatening complications.
Liansha Tang, Wenbo He, Handan Hu, Jiyan Liu, Zhike Li   +4 more
doaj   +1 more source

The Hidden Complexity of Mendelian Traits across Natural Yeast Populations

Cell Reports, 2016
Mendelian traits are considered to be at the lower end of the complexity spectrum of heritable phenotypes. However, more than a century after the rediscovery of Mendel’s law, the global landscape of monogenic variants, as well as their effects and ...
Jing Hou, Anastasie Sigwalt, Téo Fournier, David Pflieger, Jackson Peter, Jacky de Montigny, Maitreya J. Dunham, Joseph Schacherer   +7 more
doaj   +1 more source

Metabolomic Profiling of Statin Use and Genetic Inhibition of HMG-CoA Reductase [PDF]

, 2015
Background Statins are first-line therapy for cardiovascular disease prevention, but their systemic effects across lipoprotein subclasses, fatty acids, and circulating metabolites remain incompletely characterized.
Ala-Korpela, M, Casas, J-P, Chaturvedi, N, Fatemifar, G, Hingorani, AD, Hughes, AD, Jarvelin, M-R, Kahonen, M, Kangas, AJ, Kettunen, J, Kivimaki, M, Lawlor, DA, Lehtimaki, T, Mantyselka, P, Perola, M, Raitakari, OT, Salomaa, V, Sattar, N, Smith, GD, Soininen, P, Tiainen, M, Tillin, T, Tynkkynen, T, Vanhala, M, Wang, Q, Wurtz, P   +25 more
core   +2 more sources

A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records

Orphanet Journal of Rare Diseases
Background Paroxysmal Nocturnal Haemoglobinuria (PNH) is an ultra-rare, acquired disorder that is challenging to diagnose due to varied symptoms, heterogeneous patient presentations, and lack of awareness among healthcare professionals.
Amanda Worker, Hadley Mahon, Jack Sams, Freya Boardman-Pretty, Elena Marchini, Rand Dubis, Alan Warren, Jez Stockdale, Jyothika Kumar, Elizabeth Varones, Daniel Ollerenshaw, Calum Grant, Peter Fish, Richard J. Kelly   +13 more
doaj   +1 more source