The power of genetic diversity in genome-wide association studies of lipids

…, W Zhou, BM Brumpton, H Rasheed, SE Ruotsalainen… - Nature, 2021 - nature.com
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied
prevalence worldwide owing to different dietary patterns and medication use 1 . Despite …

[HTML][HTML] Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

H Hautakangas, BS Winsvold, SE Ruotsalainen… - Nature …, 2022 - nature.com
Migraine affects over a billion individuals worldwide but its genetic underpinning remains
largely unknown. Here, we performed a genome-wide association study of 102,084 migraine …

[HTML][HTML] Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

…, J Ernst, JR O'Connell, SE Ruotsalainen… - Nature …, 2018 - nature.com
Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers
potential advantages for locus discovery. We perform WGS in 16,324 participants from four …

[PDF][PDF] Geographic variation and bias in the polygenic scores of complex diseases and traits in Finland

…, AR Martin, J Koskela, SE Ruotsalainen… - The American Journal of …, 2019 - cell.com
Polygenic scores (PSs) are becoming a useful tool to identify individuals with high genetic risk
for complex diseases, and several projects are currently testing their utility for translational …

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

…, TE Galesloot, JP Bradfield, SE Ruotsalainen… - 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] Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

…, TE Galesloot, JP Bradfield, SE Ruotsalainen… - Genome biology, 2022 - Springer
Background Genetic variants within nearly 1000 loci are known to contribute to modulation
of blood lipid levels. However, the biological pathways underlying these associations are …

[HTML][HTML] Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

…, A Pampana, SE Graham, SE Ruotsalainen… - Nature …, 2021 - nature.com
Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart
disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in …

[HTML][HTML] Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

SE Ruotsalainen, I Surakka, N Mars… - Communications …, 2022 - nature.com
Cardiovascular diseases are the leading cause of premature death and disability worldwide,
with both genetic and environmental determinants. While genome-wide association studies …

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

SE Ruotsalainen, JJ Partanen, A Cichonska… - European Journal of …, 2021 - nature.com
Multivariate methods are known to increase the statistical power to detect associations in the
case of shared genetic basis between phenotypes. They have, however, lacked essential …

Medin amyloid may drive arterial aging and disease in the periphery and brain

J Madine, HA Davies, RQ Migrino, SE Ruotsalainen… - Nature Aging, 2023 - nature.com
Aging is a major risk factor for vascular disease. Increased levels of milk fat globule-EGF factor
8 (MFG-E8) are associated with many age-related arterial changes, but the mechanisms …