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  1. Article: Multi-ancestry polygenic risk scores for venous thromboembolism.

    Jee, Yon Ho / Thibord, Florian / Dominguez, Alicia / Sept, Corriene / Boulier, Kristin / Venkateswaran, Vidhya / Ding, Yi / Cherlin, Tess / Verma, Shefali Setia / Faro, Valeria Lo / Bartz, Traci M / Boland, Anne / Brody, Jennifer A / Deleuze, Jean-Francois / Emmerich, Joseph / Germain, Marine / Johnson, Andrew D / Kooperberg, Charles / Morange, Pierre-Emmanuel /
    Pankratz, Nathan / Psaty, Bruce M / Reiner, Alexander P / Smadja, David M / Sitlani, Colleen M / Suchon, Pierre / Tang, Weihong / Trégouët, David-Alexandre / Zöllner, Sebastian / Pasaniuc, Bogdan / Damrauer, Scott M / Sanna, Serena / Snieder, Harold / Kabrhel, Christopher / Smith, Nicholas L / Kraft, Peter

    medRxiv : the preprint server for health sciences

    2024  

    Abstract: Venous thromboembolism (VTE) is a significant contributor to morbidity and mortality, with large disparities in incidence rates between Black and White Americans. Polygenic risk scores (PRSs) limited to variants discovered in genome-wide association ... ...

    Abstract Venous thromboembolism (VTE) is a significant contributor to morbidity and mortality, with large disparities in incidence rates between Black and White Americans. Polygenic risk scores (PRSs) limited to variants discovered in genome-wide association studies in European-ancestry samples can identify European-ancestry individuals at high risk of VTE. However, there is limited evidence on whether high-dimensional PRS constructed using more sophisticated methods and more diverse training data can enhance the predictive ability and their utility across diverse populations. We developed PRSs for VTE using summary statistics from the International Network against Venous Thrombosis (INVENT) consortium GWAS meta-analyses of European- (71,771 cases and 1,059,740 controls) and African-ancestry samples (7,482 cases and 129,975 controls). We used LDpred2 and PRSCSx to construct ancestry-specific and multi-ancestry PRSs and evaluated their performance in an independent European- (6,261 cases and 88,238 controls) and African-ancestry sample (1,385 cases and 12,569 controls). Multi-ancestry PRSs with weights tuned in European- and African-ancestry samples, respectively, outperformed ancestry-specific PRSs in European- (PRSCSX
    Language English
    Publishing date 2024-01-10
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.01.09.24300914
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

    Hardcastle, Alison J / Liskova, Petra / Bykhovskaya, Yelena / McComish, Bennet J / Davidson, Alice E / Inglehearn, Chris F / Li, Xiaohui / Choquet, Hélène / Habeeb, Mahmoud / Lucas, Sionne E M / Sahebjada, Srujana / Pontikos, Nikolas / Lopez, Karla E Rojas / Khawaja, Anthony P / Ali, Manir / Dudakova, Lubica / Skalicka, Pavlina / Van Dooren, Bart T H / Geerards, Annette J M /
    Haudum, Christoph W / Faro, Valeria Lo / Tenen, Abi / Simcoe, Mark J / Patasova, Karina / Yarrand, Darioush / Yin, Jie / Siddiqui, Salina / Rice, Aine / Farraj, Layal Abi / Chen, Yii-Der Ida / Rahi, Jugnoo S / Krauss, Ronald M / Theusch, Elisabeth / Charlesworth, Jac C / Szczotka-Flynn, Loretta / Toomes, Carmel / Meester-Smoor, Magda A / Richardson, Andrea J / Mitchell, Paul A / Taylor, Kent D / Melles, Ronald B / Aldave, Anthony J / Mills, Richard A / Cao, Ke / Chan, Elsie / Daniell, Mark D / Wang, Jie Jin / Rotter, Jerome I / Hewitt, Alex W / MacGregor, Stuart / Klaver, Caroline C W / Ramdas, Wishal D / Craig, Jamie E / Iyengar, Sudha K / O'Brart, David / Jorgenson, Eric / Baird, Paul N / Rabinowitz, Yaron S / Burdon, Kathryn P / Hammond, Chris J / Tuft, Stephen J / Hysi, Pirro G

    Communications biology

    2021  Volume 4, Issue 1, Page(s) 266

    Abstract: Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morbidity in children and young adults and is a ... ...

    Abstract Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morbidity in children and young adults and is a common indication for corneal transplantation worldwide. Here we report the first large scale genome-wide association study of keratoconus including 4,669 cases and 116,547 controls. We have identified significant association with 36 genomic loci that, for the first time, implicate both dysregulation of corneal collagen matrix integrity and cell differentiation pathways as primary disease-causing mechanisms. The results also suggest pleiotropy, with some disease mechanisms shared with other corneal diseases, such as Fuchs endothelial corneal dystrophy. The common variants associated with keratoconus explain 12.5% of the genetic variance, which shows potential for the future development of a diagnostic test to detect susceptibility to disease.
    MeSH term(s) Humans ; Australia/epidemiology ; Case-Control Studies ; Cell Differentiation/genetics ; Collagen/metabolism ; Europe/epidemiology ; Extracellular Matrix/metabolism ; Extracellular Matrix/pathology ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Keratoconus/diagnosis ; Keratoconus/ethnology ; Keratoconus/genetics ; Keratoconus/metabolism ; Phenotype ; Polymorphism, Single Nucleotide ; Risk Assessment ; Risk Factors
    Chemical Substances Collagen (9007-34-5)
    Language English
    Publishing date 2021-03-01
    Publishing country England
    Document type Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 2399-3642
    ISSN (online) 2399-3642
    DOI 10.1038/s42003-021-01784-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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