31 Result(s)

Article

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes^1,2 and molecular mechanisms that are often specific to cell type^3,4. Here, to characterize the genetic c...

Ken Suzuki, Konstantinos Hatzikotoulas, Lorraine Southam, Henry J. Taylor… in Nature (2024)

Article

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

Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, Stavroula Kanoni… in Nature (2023)

Article

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understandi...

Stavroula Kanoni, Sarah E. Graham, Yuxuan Wang, Ida Surakka… in Genome Biology (2022)

Article

A saturated map of common genetic variants associated with human height

Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sa...

Loïc Yengo, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell… in Nature (2022)

Article

Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

Nadine Spielmann, Gregor Miller, Tudor I. Oprea… in Nature Cardiovascular Research (2022)

Article

Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

Clinical presentation of congenital heart disease is heterogeneous, making identification of the disease-causing genes and their genetic pathways and mechanisms of action challenging. By using in vivo electroc...

Nadine Spielmann, Gregor Miller, Tudor I. Oprea… in Nature Cardiovascular Research (2022)

Article

Author Correction: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

The original version of this Article contained an error in Fig. 2. In panel a, the two legend items “rare” and “common” were inadvertently swapped. This has been corrected in both the PDF and HTML versions of ...

Arthur Gilly, Daniel Suveges, Karoline Kuchenbaecker… in Nature Communications (2018)

Article

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1457 individuals from an isolated population, and test for rare variant burdens across six cardio...

Arthur Gilly, Daniel Suveges, Karoline Kuchenbaecker… in Nature Communications (2018)

Article

Combination therapy as a potential risk factor for the development of type 2 diabetes in patients with schizophrenia: the GOMAP study

Schizophrenia (SCZ) is associated with increased risk of type 2 diabetes (T2D). The potential diabetogenic effect of concomitant application of psychotropic treatment classes in patients with SCZ has not yet b...

Vasiliki Mamakou, Sophie Hackinger, Eleni Zengini, Evgenia Tsompanaki… in BMC Psychiatry (2018)

Article

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

Next-generation association studies can be empowered by sequence-based imputation and by studying founder populations. Here we report ∼9.5 million variants from whole-genome sequencing (WGS) of a Cretan-isolat...

Lorraine Southam, Arthur Gilly, Dániel Süveges… in Nature Communications (2017)

Article

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is repres...

Janina S. Ried, Janina Jeff M., Audrey Y. Chu… in Nature Communications (2016)

Article

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic i...

Jennifer Wessel, Audrey Y Chu, Sara M Willems, Shuai Wang… in Nature Communications (2015)

Article

Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants

Isolated populations are emerging as a powerful study design in the search for low-frequency and rare variant associations with complex phenotypes. Here we genotype 2,296 samples from two isolated Greek popula...

Kalliope Panoutsopoulou, Konstantinos Hatzikotoulas… in Nature Communications (2014)

Article

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies, but the generalizability of such findings remains unknown. Here...

Ioanna Tachmazidou, George Dedoussis, Lorraine Southam… in Nature Communications (2013)