Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Genetic architecture: the shape of the genetic contribution to human traits and disease

NJ Timpson, CMT Greenwood, N Soranzo… - Nature Reviews …, 2018 - nature.com
Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …

[PDF][PDF] Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

CG Boer, K Hatzikotoulas, L Southam, L Stefánsdóttir… - Cell, 2021 - cell.com
Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide
association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and …

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

JL Min, G Hemani, E Hannon, KF Dekkers… - Nature …, 2021 - nature.com
Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to
understand mechanisms underpinning gene regulation and disease. In the present study …

Genetics of obesity: what we have learned over decades of research

C Bouchard - Obesity, 2021 - Wiley Online Library
There is a genetic component to human obesity that accounts for 40% to 50% of the
variability in body weight status but that is lower among normal weight individuals (about …

GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer

S Christakoudi, E Evangelou, E Riboli, KK Tsilidis - Scientific reports, 2021 - nature.com
Genetic studies have examined body-shape measures adjusted for body mass index (BMI),
while allometric indices are additionally adjusted for height. We performed the first genome …

Characterizing rare and low-frequency height-associated variants in the Japanese population

M Akiyama, K Ishigaki, S Sakaue, Y Momozawa… - Nature …, 2019 - nature.com
Human height is a representative phenotype to elucidate genetic architecture. However, the
majority of large studies have been performed in European population. To investigate the …

A large multiethnic genome-wide association study of adult body mass index identifies novel loci

TJ Hoffmann, H Choquet, J Yin, Y Banda, MN Kvale… - Genetics, 2018 - academic.oup.com
Body mass index (BMI), a proxy measure for obesity, is determined by both environmental
(including ethnicity, age, and sex) and genetic factors, with> 400 BMI-associated loci …

Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes

N Grarup, I Moltke, MK Andersen, M Dalby… - Nature …, 2018 - nature.com
We have identified a variant in ADCY3 (encoding adenylate cyclase 3) associated with
markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The …

The genetics of adiposity

RJF Loos - Current opinion in genetics & development, 2018 - Elsevier
Genome-wide discovery efforts have identified more than 500 genetic loci associated with
adiposity traits. The vast majority of these loci were found through large-scale meta-analyses …