Explanipedia

Smoking-by-genotype interaction in type 2 diabetes risk and fasting glucose Open

Peitao Wu, Denis Rybin, Lawrence F. Bielak, M.F. Feitosa, Nora Franceschini , et al. · 2024

Smoking is a potentially causal behavioral risk factor for type 2 diabetes (T2D), but not all smokers develop T2D. It is unknown whether genetic factors partially explain this variation. We performed genome-environment-wide interaction stu…

GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes Open

Nora Franceschini, Claudia Giambartolomei, P.S. de Vries, Chris Finan, Josh Bis , et al. · 2024

Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studi…

Prediction, Prognosis and Monitoring of Neurodegeneration at Biobank-Scale via Machine Learning and Imaging Open

Anant Dadu, Michael Ta, Nicholas J. Tustison, Ali Daneshmand, Kenneth Marek , et al. · 2024

Increased CSF DOPA decarboxylase correlates with lower DaTSCAN binding: analyses in Biopark and PPMI cohorts Open

Shervin Khosousi, Andrea Sturchio, Ellen Appleton, Wojciech Pasławski, Michael Ta , et al. · 2024

Genome-wide determinants of mortality and motor progression in Parkinson’s disease Open

Manuela Tan, Michael Lawton, Miriam I. Pollard, Emmeline Brown, Raquel Real , et al. · 2022

Background There are 90 genetic risk variants for Parkinson’s disease (PD) but currently only five nominated loci for PD progression. The biology of PD progression is likely to be of central importance in defining mechanisms that can be us…

Application of Aligned-UMAP to Longitudinal Biomedical Studies Open

Anant Dadu, Vipul Satone, Rachneet Kaur, Mathew J. Koretsky, Hirotaka Iwaki , et al. · 2022

Correction: Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry Open

Amidou N’Diaye, Gary K. Chen, Cameron D. Palmer, Bing Ge, Bamidele O. Tayo , et al. · 2021

Adult height is a classic polygenic trait of high heritability (h 2 ∼0.8). More than 180 single nucleotide polymorphisms (SNPs), identified mostly in populations of European descent, are associated with height. These variants convey modest…

Trans-ethnic meta-analysis identifies new loci associated with longitudinal blood pressure traits Open

Mateus H. Gouveia, Amy R. Bentley, Hampton L. Leonard, Karlijn Meeks, Kenneth Ekoru , et al. · 2021

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types Open

Sara Sáez-Atiénzar, Sara Bandrés‐Ciga, Rebekah G. Langston, Jonggeol J. Kim, Shing Wan Choi , et al. · 2021

Massive genetic analysis identifies critical pathways and cell types involved in pathogenesis of amyotrophic lateral sclerosis.

Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project Open

Paul L. Auer, Jill M. Johnsen, Andrew D. Johnson, Benjamin A. Logsdon, Leslie A. Lange , et al. · 2020

Researchers have successfully applied exome sequencing to discover causal variants in selected individuals with familial, highly penetrant disorders. We demonstrate the utility of exome sequencing followed by imputation for discovering low…

rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis Open

K. Teo, Kushala Abeysekera, Leon A. Adams, Elmar Aigner, Quentin M. Anstee , et al. · 2020

Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis Open

Yixin Gao, Ting Wang, Xinghao Yu, Raffaele Ferrari, Dena Hernandez , et al. · 2020

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types Open

Sara Sáez-Atiénzar, Sara Bandrés‐Ciga, Rebekah G. Langston, Jonggeol J. Kim, Shing Wan Choi , et al. · 2020

Despite the considerable progress in unraveling the genetic causes of amyotrophic lateral sclerosis (ALS), we do not fully understand the molecular mechanisms underlying the disease. We analyzed genome-wide data involving 78,500 individual…

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes Open

Rainer Malik, Ganesh Chauhan, Matthew Traylor, Muralidharan Sargurupremraj, Yukinori Okada , et al. · 2019

Serum magnesium and calcium levels in relation to ischemic stroke Open

Susanna C. Larsson, Matthew Traylor, Stephen Burgess, Giorgio B. Boncoraglio, Christina Jern , et al. · 2019

This study found that genetically higher serum magnesium concentrations are associated with a reduced risk of cardioembolic stroke but found no significant association of genetically higher serum calcium concentrations with any ischemic st…

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers Open

Ming Zhang, Raffaele Ferrari, Maria Carmela Tartaglia, Julia Keith, Ezequiel Surace , et al. · 2018

The G4C2-repeat expansion in C9orf72 is the most common known cause of amyotrophic lateral sclerosis and frontotemporal dementia. The high phenotypic heterogeneity of C9orf72 patients includes a wide range in age of onset, modifiers of whi…

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes Open

Rainer Malik, Ganesh Chauhan, Matthew Traylor, Muralidharan Sargurupremraj, Yukinori Okada , et al. · 2018

Genetic variants associated with physical performance and anthropometry in old age: a genome-wide association study in the ilSIRENTE cohort Open

David Heckerman, Bryan J. Traynor, Anna Picca, Riccardo Calvani, Emanuele Marzetti , et al. · 2017

Unraveling the complexity of aging is crucial for understanding its mechanisms and its role as a risk factor for most chronic conditions. Advancements marked by genome-wide association studies (GWASs) have sparked interest in gene catalogu…

Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos Open

Tamar Sofer, Quenna Wong, Fernando Pires Hartwig, Kent D. Taylor, Helen R. Warren , et al. · 2017

Hypertension prevalence varies between ethnic groups, possibly due to differences in genetic, environmental, and cultural determinants. Hispanic/Latino Americans are a diverse and understudied population. We performed a genome-wide associa…

Immune-related genetic enrichment in frontotemporal dementia Open

Iris Broce, Celeste M. Karch, Natalie Wen, Chun Chieh Fan, Yunpeng Wang , et al. · 2017

Background Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD). Although genetic studies have shown that immune-associated loci are associated with incr…

Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms Open

Victor Rusu, Eitan Hoch, Josep M. Mercader, Danielle Tenen, Melissa Gymrek , et al. · 2017

Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations Open

Jingjing Liang, Thu H. Le, Digna R. Velez Edwards, Bamidele O. Tayo, Kyle J. Gaulton , et al. · 2017

Hypertension is a leading cause of global disease, mortality, and disability. While individuals of African descent suffer a disproportionate burden of hypertension and its complications, they have been underrepresented in genetic studies. …

Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium Open

Maggie C. Y. Ng, Mariaelisa Graff, Yingchang Lu, Anne E. Justice, Poorva Mudgal , et al. · 2017

Genome-wide association studies (GWAS) have identified >300 loci associated with measures of adiposity including body mass index (BMI) and waist-to-hip ratio (adjusted for BMI, WHRadjBMI), but few have been identified through screening of …

Detection of genetic loci associated with plasma fetuin-A: a meta-analysis of genome-wide association studies from the CHARGE Consortium Open

Majken K. Jensen, Richard A. Jensen, Kenneth J. Mukamal, Xiuqing Guo, Jie Yao , et al. · 2017

Plasma fetuin-A is associated with type 2 diabetes, and AHSG, the gene encoding fetuin-A, has been identified as a susceptibility locus for diabetes and metabolic syndrome. Thus far, unbiased investigations of the genetic determinants of p…

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis Open

Frank J.A. van Rooij, Rehan Qayyum, Albert V. Smith, Yi Zhou, Stella Trompet , et al. · 2016

Genome-Wide Association Analysis of the Sense of Smell in U.S. Older Adults: Identification of Novel Risk Loci in African-Americans and European-Americans Open

Jing Dong, Annah B. Wyss, Jingyun Yang, T. Ryan Price, Aude Nicolas , et al. · 2016

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population Open

Anamika Giri, Kin Y. Mok, Iris E. Jansen, Manu Sharma, Christelle Tesson , et al. · 2016

A genome-wide association study in multiple system atrophy Open

Anna Sailer, Sonja W. Scholz, Michael A. Nalls, Claudia Schulte, Monica Federoff , et al. · 2016

We present a GWAS in MSA. We have identified several potentially interesting gene loci, including the MAPT locus, whose significance will have to be evaluated in a larger sample set. Common genetic variation in SNCA and COQ2 does not seem …

Genome-wide assessment of Parkinson's disease in a Southern Spanish population Open

Sara Bandrés‐Ciga, Timothy R. Price, Francisco Javier Barrero, Francisco Escamilla‐Sevilla, Javier Pelegrina , et al. · 2016

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease Open

Celeste Sassi, Perry G. Ridge, Michael A. Nalls, J. Raphael Gibbs, Joshua Shulman , et al. · 2016

The cerebral deposition of Aβ42, a neurotoxic proteolytic derivate of amyloid precursor protein (APP), is a central event in Alzheimer's disease (AD)(Amyloid hypothesis). Given the key role of APP-Aβ metabolism in AD pathogenesis, we selec…

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