Results 101 to 110 of about 67,612 (348)

The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin

Annals of Neurology, EarlyView.
Objectives The objective of this study was to elucidate differences in the cumulative incidence of Leucine‐rich repeat kinase 2 (LRRK2) p.Gly2019Ser‐related Parkinson's disease (PD; LRRK2‐PD) between ancestries and countries. Methods We included 922 unrelated p.Gly2019Ser variant carriers (affected = 762 and unaffected = 160) from the Global Parkinson ...
Theresa Lüth, Björn‐Hergen Laabs, Sebastian Sendel, Inke R. König, Amke Caliebe, Alastair J. Noyce, Laurel A. Screven, Soraya Bardien, Matthew Farrer, Faycel Hentati, Rim Amouri, Christine Klein, Samia Ben Sassi, Joanne Trinh, Global Parkinson's Genetics Program (GP2)   +14 more
wiley   +1 more source

Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank [PDF]

, 2021
Louise Wang, Heena Desai, Shefali S. Verma, Anh N. Le, Ryan Hausler, Anurag Verma, Renae Judy, Abigail Doucette, Peter Gabriel, Katherine L. Nathanson, Scott M. Damrauer, Danielle L. Mowery, Marylyn D. Ritchie, Rachel L. Kember, Kara N. Maxwell   +14 more
openalex   +1 more source

Genome editing, Goldilocks and polygenic risk scores [PDF]

Journal of Medical Ethics, 2019
Heritable genome editing (HGE) is officially here. ‘Lulu’ and ‘Nana’, born in China, are the first children whose genomes have been intentionally modified. A third gene edited baby may have already been born. Scientists in Russia are planning similar applications.1 We recently argued that HGE should be judged by the same ethical standards that we ...
Gyngell, C, Bowman-Smart, H, Savulescu, J   +2 more
openaire   +3 more sources

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

Arthritis &Rheumatology, EarlyView.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng, Yejun Tan, Zhaoling Wang, Yanjie Qian, Qian Ma, Danping Shen, Meiping Lu   +6 more
wiley   +1 more source

Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field

Breast Cancer Research, 2020
Polygenic factors are estimated to account for an additional 18% of the familial relative risk of breast cancer, with those at the highest level of polygenic risk distribution having a least a twofold increased risk of the disease.
Tatiane Yanes, Mary-Anne Young, Bettina Meiser, Paul A. James   +3 more
doaj   +1 more source

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. [PDF]

, 2019
Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery efforts6-11.
23andMe Research Team, Bjornsdottir, Gyda, Boardman, Jason D, Boehnke, Michael, Boomsma, Dorret I, Brazel, David M, Chen, Chu, Chen, Fang, Choquet, Hélène, Cucca, Francesco, Datta, Gargi, Davies, Gareth E, Davila-Velderrain, Jose, Docherty, Anna R, Eaton, Charles B, Ehringer, Marissa A, Esko, Tõnu, Faul, Jessica D, Fiorillo, Edoardo, Foerster, Johanna R, Fritsche, Lars G, Gabrielsen, Maiken Elvestad, Gillespie, Nathan A, Gordon, Scott D, Gudbjartsson, Daniel F, Haessler, Jeffrey, Haller, Toomas, Harris, Kathleen Mullan, Heath, Andrew C, Hewitt, John K, Hickie, Ian B, Hokanson, John E, Hopfer, Christian J, Hottenga, Jouke-Jan, Huang, Hongyan, HUNT All-In Psychiatry, Hunter, David J, Iacono, William G, Jang, Seon-Kyeong, Jansen, Philip R, Jiang, Yu, Johnson, Eric O, Kamatani, Yoichiro, Kardia, Sharon LR, Keller, Matthew C, Kellis, Manolis, Kooperberg, Charles, Kraft, Peter, Krauter, Kenneth S, Laakso, Markku, Li, Yue, Lind, Penelope A, Ling, Yueh, Liu, Mengzhen, Loukola, Anu, Lutz, Sharon M, Madden, Pamela AF, Martin, Nicholas G, Matoba, Nana, McGue, Matt, McGuire, Daniel, McMahon, George, McQueen, Matthew B, Medland, Sarah E, Metspalu, Andres, Mohlke, Karen L, Mulas, Antonella, Mägi, Reedik, Nielsen, Jonas B, Okada, Yukinori, Orrù, Valeria, Palviainen, Teemu, Pandit, Anita, Peters, Ulrike, Polderman, Tinca JC, Posthuma, Danielle, Reginsson, Gunnar W, Reiner, Alexander P, Rice, John P, Rimm, Eric, Rose, Richard J, Runarsdottir, Valgerdur, Skogholt, Anne Heidi, Smith, Jennifer A, Stallings, Michael C, Stančáková, Alena, Stefansson, Hreinn, Taylor, Amy E, Thai, Khanh K, Tian, Chao, Tindle, Hilary A, Turman, Constance, Wedow, Robbee, Willemsen, Gonneke, Young, Hannah, Young, Kendra A, Zajac, Gregory JM, Zhan, Xiaowei, Zhao, Wei, Zhou, Wei   +99 more
core  

Late‐Onset Rheumatoid Arthritis and Air Pollution in the Multiethnic Cohort

Arthritis &Rheumatology, EarlyView.
Objective To evaluate the effects of ambient air pollution on rheumatoid arthritis (RA) incidence in a racially and ethnically diverse population. Methods This analysis included 42,152 California Multiethnic Cohort participants, aged ≥65 years (>70% African American and Latino adults) who were enrolled in the Fee For Service component of Medicare (2001–
Anna H. Wu, Chiuchen Tseng, Song‐Yi Park, Daniel O. Stram, Kami White, Jun Wu, Cheryl Vigen, Veronica W. Setiawan, Xian Yu, Steven Gazal, Christopher Haiman, Lynne Wilkens, Loïc Le Marchand, Iona Cheng, William Stohl   +14 more
wiley   +1 more source

Polygenic risk score analysis of pathologically confirmed Alzheimer's disease [PDF]

, 2017
Previous estimates of the utility of polygenic risk score analysis for the prediction of Alzheimer’s disease have given Area Under the Curve estimates of
Corneveaux, Escott-Price, Escott-Price, Huang, Jones, Karran, Lambert, Lee, Majounie, Marchini, Matarin   +10 more
core   +2 more sources

Identifying systemic lupus erythematosus from serum proteomic profiles using machine learning and genetic risk stratification

Arthritis &Rheumatology, Accepted Article.
Objectives Proteome‐wide risk models for lupus remain underexplored. We developed classification models to identify lupus from serum proteomic profiles. Methods Lupus patients and individuals with other autoimmune diseases in the UK Biobank were included.
Mehmet Hocaoǧlu, Jishnu Das, Amr H Sawalha   +2 more
wiley   +1 more source

Polygenic risk scores: from research tools to clinical instruments

Genome Medicine, 2020
Genome-wide association studies have shown unequivocally that common complex disorders have a polygenic genetic architecture and have enabled researchers to identify genetic variants associated with diseases.
Cathryn M. Lewis, Evangelos Vassos
doaj   +1 more source