Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
Genetic architecture: the shape of the genetic contribution to human traits and disease
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 …
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …
[HTML][HTML] 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 …
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
Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to
understand mechanisms underpinning gene regulation and disease. In the present study …
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 …
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
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 …
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
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 …
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 …
(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
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 …
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 …
adiposity traits. The vast majority of these loci were found through large-scale meta-analyses …