IDEAS home Printed from https://ideas.repec.org/a/gam/jijerp/v18y2021i4p1551-d494592.html
   My bibliography  Save this article

The GGLEAM Study: Understanding Glaucoma in the Ohio Amish

Author

Listed:
  • Andrea R. Waksmunski

    (Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
    Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, USA)

  • Yeunjoo E. Song

    (Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA)

  • Tyler G. Kinzy

    (Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA)

  • Reneé A. Laux

    (Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA)

  • Jane Sewell

    (Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA)

  • Denise Fuzzell

    (Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA)

  • Sarada Fuzzell

    (Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA)

  • Sherri Miller

    (Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA)

  • Janey L. Wiggs

    (Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA)

  • Louis R. Pasquale

    (Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA)

  • Jonathan M. Skarie

    (Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
    Ohio Eye Associates, Mansfield, OH 44906, USA)

  • Jonathan L. Haines

    (Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
    Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, USA)

  • Jessica N. Cooke Bailey

    (Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA
    Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, USA)

Abstract

Glaucoma leads to millions of cases of visual impairment and blindness around the world. Its susceptibility is shaped by both environmental and genetic risk factors. Although over 120 risk loci have been identified for glaucoma, a large portion of its heritability is still unexplained. Here we describe the foundation of the Genetics of GLaucoma Evaluation in the AMish (GGLEAM) study to investigate the genetic architecture of glaucoma in the Ohio Amish, which exhibits lower genetic and environmental heterogeneity compared to the general population. To date, we have enrolled 81 Amish individuals in our study from Holmes County, Ohio. As a part of our enrollment process, 62 GGLEAM study participants (42 glaucoma-affected and 20 unaffected individuals) received comprehensive eye examinations and glaucoma evaluations. Using the data from the Anabaptist Genealogy Database, we found that 80 of the GGLEAM study participants were related to one another through a large, multigenerational pedigree containing 1586 people. We plan to integrate the health and kinship data obtained for the GGLEAM study to interrogate glaucoma genetics and pathophysiology in this unique population.

Suggested Citation

  • Andrea R. Waksmunski & Yeunjoo E. Song & Tyler G. Kinzy & Reneé A. Laux & Jane Sewell & Denise Fuzzell & Sarada Fuzzell & Sherri Miller & Janey L. Wiggs & Louis R. Pasquale & Jonathan M. Skarie & Jona, 2021. "The GGLEAM Study: Understanding Glaucoma in the Ohio Amish," IJERPH, MDPI, vol. 18(4), pages 1-13, February.
    • Handle: RePEc:gam:jijerp:v:18:y:2021:i:4:p:1551-:d:494592
    as

    Download full text from publisher

    File URL: https://www.mdpi.com/1660-4601/18/4/1551/pdf
    Download Restriction: no
    File URL: https://www.mdpi.com/1660-4601/18/4/1551/
    Download Restriction: no
    ---><---

    References listed on IDEAS

    as
    1. Teri A. Manolio & Francis S. Collins & Nancy J. Cox & David B. Goldstein & Lucia A. Hindorff & David J. Hunter & Mark I. McCarthy & Erin M. Ramos & Lon R. Cardon & Aravinda Chakravarti & Judy H. Cho &, 2009. "Finding the missing heritability of complex diseases," Nature, Nature, vol. 461(7265), pages 747-753, October.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Ilias Georgakopoulos-Soares & Chengyu Deng & Vikram Agarwal & Candace S. Y. Chan & Jingjing Zhao & Fumitaka Inoue & Nadav Ahituv, 2023. "Transcription factor binding site orientation and order are major drivers of gene regulatory activity," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
    2. Lin Yuan & Chang-An Yuan & De-Shuang Huang, 2017. "FAACOSE: A Fast Adaptive Ant Colony Optimization Algorithm for Detecting SNP Epistasis," Complexity, Hindawi, vol. 2017, pages 1-10, September.
    3. Chang Lu & Jan Zaucha & Rihab Gam & Hai Fang & Smithers & Matt E. Oates & Miguel Bernabe-Rubio & James Williams & Natalie Zelenka & Arun Prasad Pandurangan & Himani Tandon & Hashem Shihab & Raju Kalai, 2023. "Hypothesis-free phenotype prediction within a genetics-first framework," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    4. Ian Barnett & Rajarshi Mukherjee & Xihong Lin, 2017. "The Generalized Higher Criticism for Testing SNP-Set Effects in Genetic Association Studies," Journal of the American Statistical Association, Taylor & Francis Journals, vol. 112(517), pages 64-76, January.
    5. Bingxin Zhao & Fei Zou, 2022. "On polygenic risk scores for complex traits prediction," Biometrics, The International Biometric Society, vol. 78(2), pages 499-511, June.
    6. von Stumm, Sophie & Kandaswamy, Radhika & Maxwell, Jessye, 2023. "Gene-environment interplay in early life cognitive development," Intelligence, Elsevier, vol. 98(C).
    7. Margaret Sunitha Selvaraj & Xihao Li & Zilin Li & Akhil Pampana & David Y. Zhang & Joseph Park & Stella Aslibekyan & Joshua C. Bis & Jennifer A. Brody & Brian E. Cade & Lee-Ming Chuang & Ren-Hua Chung, 2022. "Whole genome sequence analysis of blood lipid levels in >66,000 individuals," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
    8. Bar Haim Y. & Booth James G. & Wells Martin T., 2012. "A Mixture-Model Approach for Parallel Testing for Unequal Variances," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 11(1), pages 1-21, January.
    9. Jennifer A. Smith & Wei Zhao & Kalyn Yasutake & Carmella August & Scott M. Ratliff & Jessica D. Faul & Eric Boerwinkle & Aravinda Chakravarti & Ana V. Diez Roux & Yan Gao & Michael E. Griswold & Gerar, 2017. "Gene-by-Psychosocial Factor Interactions Influence Diastolic Blood Pressure in European and African Ancestry Populations: Meta-Analysis of Four Cohort Studies," IJERPH, MDPI, vol. 14(12), pages 1-18, December.
    10. Remo Monti & Pia Rautenstrauch & Mahsa Ghanbari & Alva Rani James & Matthias Kirchler & Uwe Ohler & Stefan Konigorski & Christoph Lippert, 2022. "Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes," Nature Communications, Nature, vol. 13(1), pages 1-16, December.
    11. Zhuoran Xu & Quan Li & Luigi Marchionni & Kai Wang, 2023. "PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
    12. Guo, Fangqi & Harris, Kathleen Mullan & Boardman, Jason D. & Robinette, Jennifer W., 2022. "Does crime trigger genetic risk for type 2 diabetes in young adults? A G x E interaction study using national data," Social Science & Medicine, Elsevier, vol. 313(C).
    13. Surina Singh & Ananyo Choudhury & Scott Hazelhurst & Nigel J. Crowther & Palwendé R. Boua & Hermann Sorgho & Godfred Agongo & Engelbert A. Nonterah & Lisa K. Micklesfield & Shane A. Norris & Isaac Kis, 2023. "Genome-wide association study meta-analysis of blood pressure traits and hypertension in sub-Saharan African populations: an AWI-Gen study," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    14. Lucas Alvizi & Diogo Nani & Luciano Abreu Brito & Gerson Shigeru Kobayashi & Maria Rita Passos-Bueno & Roberto Mayor, 2023. "Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene–environment interaction," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    15. Jayshree Advani & Puja A. Mehta & Andrew R. Hamel & Sudeep Mehrotra & Christina Kiel & Tobias Strunz & Ximena Corso-Díaz & Madeline Kwicklis & Freekje Asten & Rinki Ratnapriya & Emily Y. Chew & Dena G, 2024. "QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration," Nature Communications, Nature, vol. 15(1), pages 1-20, December.
    16. Lorena Alonso & Ignasi Morán & Cecilia Salvoro & David Torrents, 2021. "In Search of Complex Disease Risk through Genome Wide Association Studies," Mathematics, MDPI, vol. 9(23), pages 1-26, November.
    17. Agnieszka Boroń & Małgorzata Śmiarowska & Anna Grzywacz & Krzysztof Chmielowiec & Jolanta Chmielowiec & Jolanta Masiak & Tomasz Pawłowski & Dariusz Larysz & Andrzej Ciechanowicz, 2022. "Association of Polymorphism within the Putative miRNA Target Site in the 3′UTR Region of the DRD2 Gene with Neuroticism in Patients with Substance Use Disorder," IJERPH, MDPI, vol. 19(16), pages 1-21, August.
    18. Young Lee & Suyeon Park & Sanghoon Moon & Juyoung Lee & Robert C. Elston & Woojoo Lee & Sungho Won, 2014. "On the Analysis of a Repeated Measure Design in Genome-Wide Association Analysis," IJERPH, MDPI, vol. 11(12), pages 1-21, November.
    19. Noha Sharafeldin & Martha L. Slattery & Qi Liu & Conrado Franco-Villalobos & Bette J. Caan & John D. Potter & Yutaka Yasui, 2017. "Multiple Gene-Environment Interactions on the Angiogenesis Gene-Pathway Impact Rectal Cancer Risk and Survival," IJERPH, MDPI, vol. 14(10), pages 1-15, September.
    20. Zheng Xu & Song Yan & Shuai Yuan & Cong Wu & Sixia Chen & Zifang Guo & Yun Li, 2023. "Efficient Two-Stage Analysis for Complex Trait Association with Arbitrary Depth Sequencing Data," Stats, MDPI, vol. 6(1), pages 1-14, March.

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:gam:jijerp:v:18:y:2021:i:4:p:1551-:d:494592. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: MDPI Indexing Manager (email available below). General contact details of provider: https://www.mdpi.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.