Results 11 to 20 of about 8,590,328 (320)

Association of Genetic Variation With Keratoconus [PDF]

JAMA Ophthalmology, 2020
Keratoconus is a condition in which the cornea progressively thins and protrudes in a conical shape, severely affecting refraction and vision. It is a major indication for corneal transplant. To discover new genetic loci associated with keratoconus and better understand the causative mechanism of this disease, we performed a genome-wide association ...
Jamie E Craig, Jamie E Craig, Paul N. Baird, Kent D. Taylor, Kent D. Taylor, Jerome I. Rotter, Jerome I. Rotter, Stuart MacGregor, David A. Mackey, Bennet J. McComish, Jie Jin Wang, Richard A. Mills, Kathryn P. Burdon, Kathryn P. Burdon, Srujana Sahebjada, Andrea J. Richardson, Yelena Bykhovskaya, Jac Charlesworth, Alex W. Hewitt, Colin E. Willoughby, Colin E. Willoughby, Sionne E. M. Lucas, Abi Tenen, Richard A. Jensen, Yaron S. Rabinowitz, Xiaohui Li, Xiaohui Li, Paul Mitchell   +27 more
openaire   +4 more sources

Genetic association of FMRP targets with psychiatric disorders

bioRxiv, 2020
Genes encoding the mRNA targets of Fragile X mental retardation protein (FMRP) are enriched for genetic association with psychiatric disorders. However, many FMRP targets possess functions that are themselves genetically associated with psychiatric ...
N. Clifton, E. Rees, P. Holmans, A. Pardiñas, J. Harwood, A. Di Florio, G. Kirov, J. Walters, M. O’Donovan, M. Owen, J. Hall, A. Pocklington   +11 more
semanticscholar   +1 more source

Genetic Alterations Associated With Cryptorchidism [PDF]

JAMA, 2008
Cryptorchidism is the most frequent congenital birth defect in male children and represents an important risk factor for infertility and testicular cancer. Major regulators of testicular descent are the hormones insulin-like factor 3 (INSL3) and testosterone, and disruption of these pathways might cause cryptorchidism.To determine the frequency of ...
FERLIN, ALBERTO, ZUCCARELLO D, ZUCCARELLO B, CHIRICO MR, ZANON, GIOVANNI FRANCO, FORESTA, CARLO   +5 more
openaire   +6 more sources

Genetic variants associated with sepsis

PLOS ONE, 2022
Background The variable presentations and different phenotypes of sepsis suggest that risk of sepsis comes from many genes each having a small effect. The cumulative effect can be used to create individual risk profile. The purpose of this study was to create a polygenic risk score and determine the genetic variants associated with sepsis.
Milo Engoren, Elizabeth S. Jewell, Nicholas Douville, Stephanie Moser, Michael D. Maile, Melissa E. Bauer   +5 more
openaire   +4 more sources

The anatomical distribution of genetic associations [PDF]

Nucleic Acids Research, 2015
AbstractDeeper understanding of the anatomical intermediaries for disease and other complex genetic traits is essential to understanding mechanisms and developing new interventions. Existing ontology tools provide functional annotations for many genes in the genome and they are widely used to develop mechanistic hypotheses based on genetic and ...
Wells, Alan, Kopp, Nathan, Xu, Xiaoxiao, O'Brien, David R, Yang, Wei, Nehorai, Arye, Adair-Kirk, Tracy L, Kopan, Raphael, Dougherty, J D   +8 more
openaire   +5 more sources

Genetic model misspecification in genetic association studies [PDF]

BMC Research Notes, 2017
The underlying model of the genetic determinant of a trait is generally not known with certainty a priori. Hence, in genetic association studies, a dominant model might be erroneously modelled as additive, an error investigated previously. We explored this question, for candidate gene studies, by evaluating the sample size required to compensate for ...
Amadou Gaye, Sharon K. Davis
openaire   +4 more sources

Evolving temporal association rules with genetic algorithms [PDF]

, 2010
A novel framework for mining temporal association rules by discovering itemsets with a genetic algorithm is introduced. Metaheuristics have been applied to association rule mining, we show the efficacy of extending this to another variant - temporal ...
A. Ghandar, C.-Y. Chang, F. Herrera, J. Alcala-Fdez, J.H. Holland, K.A. Jong De, P.-N Tan, R. Agrawal, R. Agrawal, S. Laxman, X. Yan, Y. Li   +11 more
core   +2 more sources

FinnGen provides genetic insights from a well-phenotyped isolated population

Nature, 2023
Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common
M. Kurki, J. Karjalainen, P. Palta, Timo P. Sipilä, K. Kristiansson, K. Donner, M. Reeve, H. Laivuori, M. Aavikko, M. Kaunisto, A. Loukola, E. Lahtela, Hannele Mattsson, P. Laiho, Pietro della Briotta Parolo, Arto A Lehisto, M. Kanai, N. Mars, Joel T. Rämö, T. Kiiskinen, H. Heyne, K. Veerapen, S. Rüeger, S. Lemmelä, Wei Zhou, S. Ruotsalainen, K. Pärn, T. Hiekkalinna, Sami Koskelainen, T. Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, H. Siirtola, Kadri Reis, A. Elnahas, B. Sun, Christopher N. Foley, K. Aalto-Setälä, Kaur Alasoo, Mikko Arvas, K. Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, O. Carpén, Chia-Yen Chen, O. A. Dada, Zhihao Ding, M. Ehm, K. Eklund, M. Färkkilä, H. Finucane, A. Ganna, A. Ghazal, R. Graham, Eric M. Green, A. Hakanen, M. Hautalahti, Å. Hedman, M. Hiltunen, R. Hinttala, I. Hovatta, Xinli Hu, A. Huertas-Vazquez, L. Huilaja, J. Hunkapiller, H. Jacob, J. Jensen, H. Joensuu, Sally John, Valtteri Julkunen, M. Jung, J. Junttila, K. Kaarniranta, M. Kähönen, Risto Kajanne, Lila Kallio, R. Kälviäinen, J. Kaprio, N. Kerimov, J. Kettunen, Elina Kilpeläinen, T. Kilpi, Katherine W. Klinger, V. Kosma, T. Kuopio, Venla Kurra, T. Laisk, J. Laukkanen, Nathan Lawless, Aoxing Liu, S. Longerich, R. Mägi, J. Mäkelä, Antti A. Mäkitie, A. Malarstig, A. Mannermaa, Joseph C Maranville, A. Matakidou, T. Meretoja, S. Mozaffari, Mari E. K. Niemi, Mari E. K. Niemi, T. Niiranen, Christopher J O 'donnell, M. Obeidat, G. Okafo, H. Ollila, A. Palomäki, T. Palotie, J. Partanen, D. Paul, Margit K. Pelkonen, Rion K. Pendergrass, S. Petrovski, A. Pitkäranta, A. Platt, D. Pulford, E. Punkka, P. Pussinen, Neha S. Raghavan, F. Rahimov, D. Rajpal, N. Renaud, B. Riley-Gillis, R. Rodosthenous, Elmo Saarentaus, A. Salminen, Eveliina Salminen, V. Salomaa, J. Schleutker, R. Serpi, Huei-yi Shen, R. Siegel, K. Silander, S. Siltanen, S. Soini, H. Soininen, J. Sul, I. Tachmazidou, K. Tasanen, P. Tienari, S. Toppila-Salmi, T. Tukiainen, T. Tuomi, J. Turunen, J. Ulirsch, Felix C. Vaura, P. Virolainen, J. Waring, D. Waterworth, Robert Yang, M. Nelis, A. Reigo, A. Metspalu, L. Milani, T. Esko, Caroline Fox, A. Havulinna, M. Perola, S. Ripatti, A. Jalanko, Tarja Laitinen, T. Mäkelä, R. Plenge, M. McCarthy, H. Runz, M. Daly, A. Palotie   +167 more
semanticscholar   +1 more source

Cytokine gene polymorphisms in preterm infants with necrotising enterocolitis: genetic association study [PDF]

, 2016
BACKGROUND The inflammatory cytokine cascade is implicated in the pathogenesis of necrotising enterocolitis (NEC). Genetic association studies of cytokine polymorphisms may help to detect molecular mechanisms that are causally related to the disease ...
Baier, R. J., Brocklehurst, P., Craig, S., Helps, N., Henderson, G., McGuire, W.   +5 more
core   +1 more source

Genome-wide association analysis of plasma lipidome identifies 495 genetic associations

medRxiv, 2023
Human plasma lipidome captures risk for cardio-metabolic diseases. To discover new lipid-associated variants and understand link between lipid species and cardiometabolic disorders, we performed univariate and multivariate genome-wide analyses of 179 ...
L. Ottensmann, R. Tabassum, S. Ruotsalainen, M. Gerl, C. Klose, E. Widén, K. Simons, S. Ripatti, M. Pirinen   +8 more
semanticscholar   +1 more source