36 Result(s)

Article

Principles and methods for transferring polygenic risk scores across global populations

Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait or disease and may become a valuable tool for advancing precision medicine. However, PRSs that are developed in popula...

Linda Kachuri, Nilanjan Chatterjee, Jibril Hirbo… in Nature Reviews Genetics (2024)

Article

A new method for multiancestry polygenic prediction improves performance across diverse populations

Polygenic risk scores (PRSs) increasingly predict complex traits; however, suboptimal performance in non-European populations raise concerns about clinical applications and health inequities. We developed CT-S...

Haoyu Zhang, Jianan Zhan, ** **, **gning Zhang, Wenxuan Lu… in Nature Genetics (2023)

Article

Polygenic scores in biomedical research

Public health strategies aimed at disease prevention or early detection and intervention have the potential to advance human health worldwide. However, their success depends on the identification of risk facto...

Iftikhar J. Kullo, Cathryn M. Lewis, Michael Inouye… in Nature Reviews Genetics (2022)

Article

Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies

Improved understanding of genetic regulation of the proteome can facilitate identification of the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from 7,213 European American (E...

**gning Zhang, Diptavo Dutta, Anna Köttgen, Adrienne Tin… in Nature Genetics (2022)

Article

Cancer therapy shapes the fitness landscape of clonal hematopoiesis

Acquired mutations are pervasive across normal tissues. However, understanding of the processes that drive transformation of certain clones to cancer is limited. Here we study this phenomenon in the context of...

Kelly L. Bolton, Ryan N. Ptashkin, Teng Gao, Lior Braunstein… in Nature Genetics (2020)

Article

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype^1–3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases ...

Haoyu Zhang, Thomas U. Ahearn, Julie Lecarpentier, Daniel Barnes… in Nature Genetics (2020)

Article

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

Genome-wide association studies (GWAS) have identified genetic variants at 34 loci contributing to age-related macular degeneration (AMD)^1–3. We generated transcriptional profiles of postmortem retinas from 453 c...

Rinki Ratnapriya, Olukayode A. Sosina, Margaret R. Starostik… in Nature Genetics (2019)

Article

Estimation of complex effect-size distributions using summary-level statistics from genome-wide association studies across 32 complex traits

We developed a likelihood-based approach for analyzing summary-level statistics and external linkage disequilibrium information to estimate effect-size distributions of common variants, characterized by the pr...

Yan Zhang, Guanghao Qi, Ju-Hyun Park, Nilanjan Chatterjee in Nature Genetics (2018)

Article

Develo** and evaluating polygenic risk prediction models for stratified disease prevention

Article

Interactions between household air pollution and GWAS-identified lung cancer susceptibility markers in the Female Lung Cancer Consortium in Asia (FLCCA)

We previously carried out a multi-stage genome-wide association study (GWAS) on lung cancer among never smokers in the Female Lung Cancer Consortium in Asia (FLCCA) (6,609 cases, 7,457 controls) that identifie...

H. Dean Hosgood III, Minsun Song, Chao Agnes Hsiung, Zhihua Yin… in Human Genetics (2015)

Article

Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

James Cerhan and colleagues report genome-wide association and meta-analysis studies to identify genetic susceptibility loci for diffuse large B cell lymphoma. They identify four loci that influence genetic su...

James R Cerhan, Sonja I Berndt, Joseph Vijai, Hervé Ghesquières… in Nature Genetics (2014)

Article

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

Richard Houlston, Maria Teresa Landi and colleagues report the identification of large-effect associations for squamous lung cancer with rare variants in BRCA2 and CHEK2.

Yufei Wang, James D McKay, Thorunn Rafnar, Zhaoming Wang… in Nature Genetics (2014)

Article

Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

Susan Slager and colleagues report a meta-analysis of genome-wide association studies for chronic lymphocytic leukemia (CLL). They identify nine loci newly associated with CLL.

Sonja I Berndt, Christine F Skibola, Vijai Joseph, Nicola J Camp… in Nature Genetics (2013)

Article

Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies

Nilanjan Chatterjee and colleagues report a theoretical framework to assess the predictive performance of polygenic models for risk prediction, based on analysis of genome-wide association study data sets. Acr...

Nilanjan Chatterjee, Bill Wheeler, Joshua Sampson, Patricia Hartge… in Nature Genetics (2013)

Article

Genome-wide association study of glioma and meta-analysis

Gliomas account for approximately 80 % of all primary malignant brain tumors and, despite improvements in clinical care over the last 20 years, remain among the most lethal tumors, underscoring the need for ga...

Preetha Rajaraman, Beatrice S. Melin, Zhaoming Wang… in Human Genetics (2012)

Article

Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia

Qing Lan and colleagues report the results of a genome-wide association study of lung cancer in never-smoking women from Asia. They identify three new susceptibility loci and confirm three other previously rep...

Qing Lan, Chao A Hsiung, Keitaro Matsuo, Yun-Chul Hong, Adeline Seow… in Nature Genetics (2012)

Article

Challenges and opportunities in genome-wide environmental interaction (GWEI) studies

The interest in performing gene–environment interaction studies has seen a significant increase with the increase of advanced molecular genetics techniques. Practically, it became possible to investigate the r...

Hugues Aschard, Sharon Lutz, Bärbel Maus, Eric J. Duell… in Human Genetics (2012)

Article

Genetic variant in TP63 on locus 3q28 is associated with risk of lung adenocarcinoma among never-smoking females in Asia

A recent genome-wide association study (GWAS) of subjects from Japan and South Korea reported a novel association between the TP63 locus on chromosome 3q28 and risk of lung adenocarcinoma (p = 7.3 × 10⁻¹²); howev...

H. Dean Hosgood III, Wen-Chang Wang, Yun-Chul Hong, Jiu-Cun Wang… in Human Genetics (2012)