Candace Guiducci

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

Niall J. Lennon, Leah C. Kottyan, Christopher Kachulis, Noura S. Abul‐Husn et autres

Polygenic risk scores (PRS) have improved in predictive performance supporting their use in clinical practice. Reduced predictive performance of PRS in diverse populations can exacerbate existing health disparities. The NHGRI-funded eMERGE Network is returning a PRS-based genome-informed risk assessment to 25,000 diverse …

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Returning integrated genomic risk and clinical recommendations: The eMERGE study

Jodell E. Linder, Aimee Allworth, Harris T. Bland, Pedro J. Caraballo et autres

PURPOSE: Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use …

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Identification of ten loci associated with height highlights new biological pathways in human growth

Valeriya Lyssenko, Frank B. Hu, Peter Kraft, S. Eyheramendy et autres

Height is a classic polygenic trait, reflecting the combined influence of multiple as-yet-undiscovered genetic factors. We carried out a meta-analysis of genome-wide association study data of height from 15,821 individuals at 2.2 million SNPs, and followed up the strongest findings in >10,000 …

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Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Ayellet V. Segrè, Matti A. Rookus, Lesley McGuffog, Frans B. L. GEMO Study Collaborators et autres

The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage …

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

Timothy M. Frayling, Richard N. Bergman, Katherine S. Elliott, Harald Grallert et autres

Genome-wide association (GWA) studies have identified multiple new genomic loci at which common variants modestly but reproducibly influence risk of type 2 diabetes (T2D)1-11. Established associations to common and rare variants explain only a small proportion of the heritability of T2D. As …

Common variants at 30 loci contribute to polygenic dyslipidemia

Toshiko Tanaka, Pilar Galán, Serkalem Demissie, Eric E. Schadt et autres

Blood low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol and triglyceride levels are risk factors for cardiovascular disease. To dissect the polygenic basis of these traits, we conducted genome-wide association screens in 19,840 individuals and replication in up to 20,623 individuals. We …

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes

Natalie R. van Zuydam, Emma Ahlqvist, Niina Sandholm, Harshal Deshmukh et autres

Identification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association study (GWAS) of DKD in type 2 diabetes (T2D) using eight complementary dichotomous …

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Genetic evidence of assortative mating in humans

Matthew R. Robinson, Aaron Kleinman, Mariaelisa Graff, Anna A. E. Vinkhuyzen et autres

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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Cristian Pattaro, Alexander Teumer, Mathias Gorski, Audrey Y. Chu et autres

Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. …

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Genetic analysis for a shared biological basis between migraine and coronary artery disease

Bendik S. Winsvold, Christopher P. Nelson, Rainer Malik, Padhraig Gormley et autres

OBJECTIVE: To apply genetic analysis of genome-wide association data to study the extent and nature of a shared biological basis between migraine and coronary artery disease (CAD). METHODS: Four separate methods for cross-phenotype genetic analysis were applied on data from 2 large-scale …

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The evolution of drug resistance in clinical isolates of Candida albicans

Christopher B. Ford, Jason Funt, Darren Abbey, Luca Issi et autres

Candida albicans is both a member of the healthy human microbiome and a major pathogen in immunocompromised individuals. Infections are typically treated with azole inhibitors of ergosterol biosynthesis often leading to drug resistance. Studies in clinical isolates have implicated multiple mechanisms in …

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Figure 6—source data 1.

Christopher B. Ford, Jason Funt, Darren Abbey, Luca Issi et autres