Results 41 to 50 of about 2,929,620 (353)

A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.

Blood Advances, 2021
Individuals with monogenic disorders can experience variable phenotypes that are influenced by genetic variation. To investigate this in sickle cell disease (SCD), we performed whole-genome sequencing (WGS) of 722 individuals with hemoglobin HbSS or ...
E. Rampersaud, G. Kang, L. Palmer, S. Rashkin, Shuoguo Wang, W. Bi, N. Alberts, D. Anghelescu, Martha Barton, K. Birch, N. Boulos, A. Brandow, R. Brooke, Ti‐Cheng Chang, Wenan Chen, Yong Cheng, Juan Ding, J. Easton, Jason R. Hodges, C. Kanne, S. Levy, H. Mulder, Ajay P Patel, Latika Puri, Celeste D Rosencrance, Michael C. Rusch, Y. Sapkota, Edgar Sioson, Akshay Sharma, Xing Tang, A. Thrasher, Winfred C. Wang, Yu Yao, Y. Yasui, D. Yergeau, J. Hankins, V. Sheehan, J. Downing, J. Estepp, Jinghui Zhang, M. DeBaun, Gang Wu, M. Weiss   +42 more
semanticscholar   +1 more source

The roles of MMP8/MMP10 polymorphisms in ischemic stroke susceptibility

Brain and Behavior, Volume 12, Issue 12, December 2022., 2022
Abstract Background Ischemic stroke (IS), a multifactorial and polygenic disease, is the most common cause of death. This study aimed to determine the roles of MMP8/MMP10 polymorphisms in IS susceptibility in the Chinese Han population. Methods MMP8 rs1940475 and rs3765620, and MMP10 rs17860949 from 700 IS patients and 700 controls were genotyped by ...
Yong Zhao, Qi Zhang, Xiaobo Zhang, Yu Zhang, Ying Lu, Xiaojuan Ma, Weiping Li, Xiaochen Niu, Gejuan Zhang, Mingze Chang, Wenzhen Shi, Ye Tian   +11 more
wiley   +1 more source

Polygenic risk score: use in migraine research

The Journal of Headache and Pain, 2018
Background The latest Genome-Wide Association Study identified 38 genetic variants associated with migraine. In this type of studies the significance level is very difficult to achieve (5 × 10− 8) due to multiple testing.
Mona Ameri Chalmer, Ann-Louise Esserlind, Jes Olesen, Thomas Folkmann Hansen   +3 more
doaj   +1 more source

On cross-ancestry cancer polygenic risk scores [PDF]

PLOS Genetics, 2021
Polygenic risk scores (PRS) can provide useful information for personalized risk stratification and disease risk assessment, especially when combined with non-genetic risk factors. However, their construction depends on the availability of summary statistics from genome-wide association studies (GWAS) independent from the target sample.
Lars G. Fritsche, Seunggeun Lee, Seunggeun Lee, Ying Ma, Bhramar Mukherjee, Daiwei Zhang, Xiang Zhou, Maxwell Salvatore   +7 more
openaire   +5 more sources

HIVEP3 cooperates with ferroptosis gene signatures to confer adverse prognosis in acute myeloid leukemia

Cancer Medicine, Volume 11, Issue 24, Page 5050-5065, December 2022., 2022
The aberrant expression pattern and prognostic implications of HIVEP3 in AML were explored and validated based on versatile bioinformatics tools. A LASSO model which combined HIVEP3 with ferroptosis regulators was created to predict the prognosis for AML patients.
Xiaoning Zhang, Xiaoyu Zhang, Kuo Liu, Wenwen Li, Jiazheng Wang, Peng Liu, Wanshan Ma   +6 more
wiley   +1 more source

The Polygenic Score Catalog: an open database for reproducibility and systematic evaluation

medRxiv, 2020
Polygenic [risk] scores (PGS) can enhance prediction and understanding of common diseases and traits. However, the reproducibility of PGS and their subsequent applications in biological and clinical research have been hindered by several factors ...
Samuel A. Lambert, Laurent Gil, S. Jupp, S. Ritchie, Yu Xu, A. Buniello, Gad Abraham, Michael Chapman, H. Parkinson, J. Danesh, J. MacArthur, M. Inouye   +11 more
semanticscholar   +1 more source

Polygenic risk scores in epilepsy

Medizinische Genetik, 2022
Abstract An epilepsy diagnosis has large consequences for an individual but is often difficult to make in clinical practice. Novel biomarkers are thus greatly needed. Here, we give an overview of how thousands of common genetic factors that increase the risk for epilepsy can be summarized as epilepsy polygenic risk scores (PRS).
openaire   +3 more sources

Polygenic risk scores: a biased prediction? [PDF]

Genome Medicine, 2018
A new study highlights the biases and inaccuracies of polygenic risk scores (PRS) when predicting disease risk in individuals from populations other than those used in their derivation. The design bias of workhorse tools used for research, particularly genotyping arrays, contributes to these distortions.
Francisco M. De La Vega, Carlos D. Bustamante   +1 more
openaire   +3 more sources

Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease

Arteriosclerosis, Thrombosis and Vascular Biology, 2020
Supplemental Digital Content is available in the text. Objective: To determine the relationship of a genome-wide polygenic score for coronary artery disease (GPSCAD) with lifetime trajectories of CAD risk, directly compare its predictive capacity to ...
G. Hindy, Krishna G. Aragam, Kenney Ng, M. Chaffin, L. Lotta, A. Baras, Isabel Drake, M. Orho-Melander, O. Melander, S. Kathiresan, A. Khera   +10 more
semanticscholar   +1 more source

The matrix metalloproteinase 7 (MMP7) links Hsp90 chaperone with acquired drug resistance and tumor metastasis

Cancer Reports, Volume 5, Issue 12, December 2022., 2022
Abstract Background Cancer emergence is associated with a series of cellular transformations that include acquired drug resistance followed by tumor metastasis. Matrix metalloproteinases (MMPs) and Hsp90 chaperone are implicated in tumor progression, however, they are not studied in the context of drug resistance. Aims In the present study, we aimed at
Pankaj Kumar, Satish Siripini, Amere Subbarao Sreedhar   +2 more
wiley   +1 more source