[PDF][PDF] A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

S Ramdas, J Judd, SE Graham, S Kanoni… - The American Journal of …, 2022 - cell.com
A major challenge of genome-wide association studies (GWASs) is to translate phenotypic
associations into biological insights. Here, we integrate a large GWAS on blood lipids …

[HTML][HTML] Genome-wide characterization of circulating metabolic biomarkers

MK Karjalainen, S Karthikeyan, C Oliver-Williams… - Nature, 2024 - nature.com
Genome-wide association analyses using high-throughput metabolomics platforms have led
to novel insights into the biology of human metabolism,,,,,–. This detailed knowledge of the …

[HTML][HTML] Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits

G Thareja, Y Al-Sarraj, A Belkadi, M Almotawa… - Nature …, 2021 - nature.com
Clinical laboratory tests play a pivotal role in medical decision making, but little is known
about their genetic variability between populations. We report a genome-wide association …

[HTML][HTML] GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation

C Terao, Y Momozawa, K Ishigaki, E Kawakami… - Nature …, 2019 - nature.com
Mosaic loss of chromosome Y (mLOY) is frequently observed in the leukocytes of ageing
men. However, the genetic architecture and biological mechanisms underlying mLOY are …

[HTML][HTML] Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer

Y Lin, M Nakatochi, Y Hosono, H Ito, Y Kamatani… - Nature …, 2020 - nature.com
Pancreatic cancer is the fourth leading cause of cancer-related deaths in Japan. To identify
risk loci, we perform a meta-analysis of three genome-wide association studies comprising …

[HTML][HTML] Interethnic analyses of blood pressure loci in populations of East Asian and European descent

F Takeuchi, M Akiyama, N Matoba, T Katsuya… - Nature …, 2018 - nature.com
Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200
genetic loci associated with BP are known. Here, we perform a multi-stage genome-wide …

The ABCG2/BCRP transporter and its variants–from structure to pathology

B Sarkadi, L Homolya, T Hegedűs - FEBS letters, 2020 - Wiley Online Library
The ABCG2 protein has a key role in the transport of a wide range of structurally dissimilar
endo‐and xenobiotics in the human body, especially in the tissue barriers and the …

[HTML][HTML] Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases

Y Li, Y Cheng, F Consolato, G Schiano, MR Chong… - JCI insight, 2022 - ncbi.nlm.nih.gov
Uromodulin (UMOD) is a major risk gene for monogenic and complex forms of kidney
disease. The encoded kidney-specific protein uromodulin is highly abundant in urine and …

Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25. 1 and 22q11. 23

S Garnier, M Harakalova, S Weiss, M Mokry… - European heart …, 2021 - academic.oup.com
Aims Our objective was to better understand the genetic bases of dilated cardiomyopathy
(DCM), a leading cause of systolic heart failure. Methods and results We conducted the …

[HTML][HTML] Genome-wide association study of metabolic syndrome in Korean populations

SW Oh, JE Lee, E Shin, H Kwon, EK Choe, SY Choi… - PloS one, 2020 - journals.plos.org
Metabolic syndrome (MetS) which is caused by obesity and insulin resistance, is well known
for its predictive capability for the risk of type 2 diabetes mellitus and cardiovascular disease …