Genetics of substance use disorders in the era of big data

J Gelernter, R Polimanti - Nature Reviews Genetics, 2021 - nature.com
Substance use disorders (SUDs) are conditions in which the use of legal or illegal
substances, such as nicotine, alcohol or opioids, results in clinical and functional …

[HTML][HTML] Genetics of type 2 diabetes

RJ Kreienkamp, BF Voight, AL Gloyn… - Diabetes in America …, 2023 - ncbi.nlm.nih.gov
Since early 2007, the establishment of international consortia and biobanks has catalyzed
the performance of large-scale genomic studies. These efforts have driven an explosion in …

Rare variant contribution to the heritability of coronary artery disease

G Rocheleau, SL Clarke, G Auguste… - Nature …, 2024 - nature.com
Whole genome sequences (WGS) enable discovery of rare variants which may contribute to
missing heritability of coronary artery disease (CAD). To measure their contribution, we …

Association of SLC11A1 polymorphisms with anthropometric and biochemical parameters describing Type 2 Diabetes Mellitus

Z Kavian, S Sargazi, M Majidpour, M Sarhadi… - Scientific reports, 2023 - nature.com
Diabetes, a leading cause of death globally, has different types, with Type 2 Diabetes
Mellitus (T2DM) being the most prevalent one. It has been established that variations in the …

Unravelling the genetic architecture of human complex traits through whole genome sequencing

O Bocher, CJ Willer, E Zeggini - nature communications, 2023 - nature.com
Whole genome sequencing has enabled new insights into the genetic architecture of
complex traits, especially through access to low-frequency and rare variation. This Comment …

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease

M Khani, E Gibbons, J Bras, R Guerreiro - Molecular neurodegeneration, 2022 - Springer
The search for rare variants in Alzheimer's disease (AD) is usually deemed a high-risk-high-
reward situation. The challenges associated with this endeavor are real. Still, the application …

Integration of evidence across human and model organism studies: A meeting report

RHC Palmer, EC Johnson, H Won… - Genes, Brain and …, 2021 - Wiley Online Library
Abstract The National Institute on Drug Abuse and Joint Institute for Biological Sciences at
the Oak Ridge National Laboratory hosted a meeting attended by a diverse group of …

Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification

PS de Vries, MP Conomos, K Singh… - Nature cardiovascular …, 2023 - nature.com
Coronary artery calcification (CAC) is a measure of atherosclerosis and a well-established
predictor of coronary artery disease (CAD) events. Here we describe a genome-wide …

Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program

D DiCorpo, SM Gaynor, EM Russell… - Communications …, 2022 - nature.com
The genetic determinants of fasting glucose (FG) and fasting insulin (FI) have been studied
mostly through genome arrays, resulting in over 100 associated variants. We extended this …

Шкалы для оценки генетического риска развития сахарного диабета 2-го типа

ОВ Курилова, АВ Киселева, АН Мешков… - Профилактическая …, 2021 - elibrary.ru
Сахарный диабет 2-го типа (СД2) является независимым фактором риска сердечно-
сосудистых заболеваний, наличие которых значимо повышает сердечно-сосудистый …