315
Views
1
CrossRef citations to date
0
Altmetric
Research Article

Development and Evaluation of a Rules-based Algorithm for Primary Open-Angle Glaucoma in the VA Million Veteran Program

, , , , , , , , , , , , ORCID Icon, , , , & show all
Pages 640-648 | Received 14 May 2021, Accepted 09 Oct 2021, Published online: 25 Nov 2021

References

  • Tham Y-C, Li X, Wong TY, Quigley HA, Aung T, Cheng C-Y. Global prevalence of glaucoma and projections of glaucoma burden through 2040. Ophthalmology. 2014;121(11):2081–2090. doi:10.1016/j.ophtha.2014.05.013.
  • Kwon YH, Fingert JH, Kuehn MH, Alward WLM. Mechanism of disease: primary open-angle glaucoma. N Engl J Med. 2009;360(11):1113–1124. doi:10.1056/NEJMra0804630.
  • Sanfilippo PG, Hewitt AW, Hammond CJ, Mackey DA. The heritability of ocular traits. Surv Ophthalmol. 2010;55(6):561–583. doi:10.1016/j.survophthal.2010.07.003.
  • Springelkamp H, Höhn R, Mishra A, et al. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014. 5(1). doi:10.1038/ncomms5883.
  • Wang K, Gaitsch H, Poon H, Cox NJ, Rzhetsky A. Classification of common human diseases derived from shared genetic and environmental determinants. Nat Genet. 2017;49(9):1319–1325. doi:10.1038/ng.3931.
  • Choquet H, Paylakhi S, Kneeland SC, et al. A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci. Nat Commun. 2018;9(1):2278.doi:10.1038/s41467-018-04555-4.
  • Ge T, Chen CY, Neale BM, Sabuncu MR, Smoller JW. Phenome-wide heritability analysis of the UK Biobank. PLoS Genet. 2017;13(4):4. doi:10.1371/journal.pgen.1006711.
  • Polubriaginof FCG, Vanguri R, Quinnies K, et al. Disease heritability inferred from familial relationships reported in medical records. Cell. 2018;173(7):1692–1704.e11.doi:10.1016/j.cell.2018.04.032.
  • Gharahkhani P, Jorgenson E, Hysi P, et al. A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer’s disease. bioRxiv. February 2020: 2020.01.30.927822. doi:10.1101/2020.01.30.927822
  • National Eye Institute. Glaucoma, open-angle | national eye institute; 2019. https://nei.nih.gov/eyedata/glaucoma. Accessed January 31, 2019.
  • Quigley H, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90(3):262–267. doi:10.1136/bjo.2005.081224.
  • Khachatryan N, Medeiros FA, Sharpsten L, et al. The African descent and glaucoma evaluation study (ADAGES): predictors of visual field damage in glaucoma suspects. Am J Ophthalmol. 2015;159(4):777–787.e1.doi:10.1016/j.ajo.2015.01.011.
  • Kyari F, Abdull MM, Bastawrous A, Gilbert CE, Faal H. Epidemiology of glaucoma in Sub-Saharan Africa: prevalence, incidence and risk factors. Middle East Afr J Ophthalmol. 2013;20(2):111–125. doi:10.4103/0974-9233.110605.
  • Julia Salinas RS, NHF AM, Warren JZ. Primary open-angle glaucoma in individuals of African descent: a review of risk factors. J Clin Exp Ophthalmol. 2015;06(04). doi:10.4172/2155-9570.1000450.
  • Taylor KD, Guo X, Zangwill LM, et al. Genetic architecture of primary open-angle glaucoma in individuals of African descent: the African descent and glaucoma evaluation study III. Ophthalmology. 2019;126(1):38–48.doi:10.1016/j.ophtha.2018.10.031.
  • Genetics of Glaucoma in People of African Descent (GGLAD) Consortium, Hauser MA, Allingham RR, Aung T, et al. Association of genetic variants with primary open-angle glaucoma among individuals with African ancestry. JAMA. 2019;322(17):1682–1691. doi:10.1001/jama.2019.16161.
  • Choquet H, Thai KK, Yin J, et al. A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. Nat Commun. 2017;8(1):2108.doi:10.1038/s41467-017-01913-6.
  • Gudiseva H, Verma SS, Chavali V, et al. Genome wide-association study identifies novel loci in the primary open-angle African American glaucoma genetics (POAAGG) study. bioRxiv. March 2020: 2020.02.27.968156. doi:10.1101/2020.02.27.968156
  • Gaziano JM, Concato J, Brophy M. et al. Million veteran program: a mega-biobank to study genetic influences on health and disease. J Clin Epidemiol. 2016;70:214–223. doi:10.1016/j.jclinepi.2015.09.016.
  • Nguyen X-MT, Quaden RM, Song RJ, et al. Baseline characterization and annual trends of body mass index for a mega-biobank cohort of US veterans 2011-2017. J Heal Res Rev Dev Ctries. 2018;5(2):98–107. doi:10.4103/jhrr.jhrr_10_18.
  • Pendergrass SA, Crawford DC. Using electronic health records to generate phenotypes for research. Curr Protoc Hum Genet. 2019;100(1):e80. doi:10.1002/cphg.80.
  • Serper M, Vujkovic M, Kaplan DE, et al. Validating a non-invasive, ALT-based nonalcoholic fatty liver phenotype in the million veteran program. PLoS One. 2020;15(8):e0237430.doi:10.1371/journal.pone.0237430.
  • Harrington KM, Quaden R, Stein MB, et al. Validation of an electronic medical record–based algorithm for identifying posttraumatic stress disorder in U.S. veterans. J Trauma Stress. 2019;32(2):226–237.doi:10.1002/jts.22399.
  • Halladay CW, Hadi T, Anger MD, et al. Genetically-guided algorithm development and sample size optimization for age-related macular degeneration cases and controls in electronic health records from the VA Million Veteran Program. AMIA Jt Summits Transl Sci proceedings AMIA Jt Summits Transl Sci. 2019;2019:153–162. http://www.ncbi.nlm.nih.gov/pubmed/31258967. Accessed January 15, 2020.
  • Knight KE, Honerlaw J, Danciu I, et al. Standardized architecture for a mega-biobank phenomic library: the million veteran program (MVP). AMIA Jt Summits Transl Sci Proc. 2020;2020:326–334. http://www.ncbi.nlm.nih.gov/pubmed/32477652. Accessed January 13, 2021.
  • Rasmussen LV, Peissig PL, McCarty CA, Starren J. Development of an optical character recognition pipeline for handwritten form fields from an electronic health record. J Am Med Inf Assoc. 2012;19(E1):e90–e95. doi:10.1136/amiajnl-2011-000182.
  • Peissig PL, Rasmussen LV, Berg RL, et al. Importance of multi-modal approaches to effectively identify cataract cases from electronic health records. J Am Med Inf Assoc. 2012;19(2):225–234.doi:10.1136/amiajnl-2011-000456.
  • Peissig P, Schwei KM, Kadolph C, et al. prototype development: context-driven dynamic XML ophthalmologic data capture application. JMIR Med Inform. 2017;5(3):e27.doi:10.2196/medinform.7465.
  • Restrepo NA, Farber-Eger E, Crawford DC. Searching in the dark: phenotyping diabetic retinopathy in a de-identified electronic medical record sample of African Americans. AMIA Jt Summits Transl Sci Proc. 2016;2016:221–230. http://www.ncbi.nlm.nih.gov/pubmed/27570675. Accessed January 5, 2021.
  • Fihn SD, Francis J, Clancy C, et al. Insights from advanced analytics at the veterans health administration. Health Aff. 2014;33(7):1203–1211.doi:10.1377/hlthaff.2014.0054.
  • Wong EYH, Keeffe JE, Rait JL, et al. Detection of undiagnosed glaucoma by eye health professionals. Ophthalmology. 2004;111(8):1508–1514.doi:10.1016/j.ophtha.2004.01.029.
  • Wolfs RCW, Borger PH, Ramrattan RS, et al. Changing views on open-angle glaucoma: definitions and prevalences—the rotterdam study. Invest Ophthalmol Vis Sci. 2000;41(11):3309–3321. https://iovs.arvojournals.org/article.aspx?articleid=2123084. Accessed September 29, 2020.
  • Hunter-Zinck H, Shi Y, Li M, et al. Genotyping array design and data quality control in the million veteran program. Am J Hum Genet. 2020;106(4):535–548.doi:10.1016/j.ajhg.2020.03.004.
  • Restrepo NA, Laper SM, Farber-Eger E, Crawford DC. Local genetic ancestry in CDKN2B-AS1 is associated with primary open-angle glaucoma in an African American cohort extracted from de-identified electronic health records. BMC Med Genomics. 2018. doi:10.1186/s12920-018-0392-4.
  • Restrepo NA, Farber-Eger E, Goodloe R, Haines JL, Crawford DC, Jablonski MM. Extracting primary open-angle glaucoma from electronic medical records for genetic association studies. PLoS One. 2015;10(6):e0127817. doi:10.1371/journal.pone.0127817.
  • Bonnemaijer PWM, Leeuwen EM, Iglesias AI, et al. Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. Commun Biol. 2019. 2(1). doi:10.1038/s42003-019-0634-9.
  • The 1000 Genomes Project Consortium 1000 GP. A global reference for human genetic variation. Nature. 2015;526(7571):68–74. doi:10.1038/nature15393.
  • Fang H, Hui Q, Lynch J, et al. Harmonizing genetic ancestry and self-identified race/ethnicity in genome-wide association studies. Am J Hum Genet. 2019;105(4):763–772.doi:10.1016/j.ajhg.2019.08.012.
  • Wiggs JL, Yaspan BL, Hauser MA, et al. Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. Barsh GS, ed. PLoS Genet. 2012;8(4):e1002654.doi:10.1371/journal.pgen.1002654.
  • ALFA: allele frequency aggregator. https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/. Accessed December 14, 2020.
  • Burdon KP, MacGregor S, Hewitt AW, et al. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet. 2011;43(6):574–578.doi:10.1038/ng.824.
  • Cooke Bailey JN, Loomis SJ, Kang JH, et al. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet. 2016;48(2):189–194.doi:10.1038/ng.3482.
  • Gharahkhani P, Burdon KP, Fogarty R, et al. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet. 2014;46(10):1120–1125.doi:10.1038/ng.3079.
  • Gharahkhani P, Burdon KP, Cooke Bailey JN, et al. Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Sci Rep. 2018;8(1):3124.doi:10.1038/s41598-018-20435-9.
  • Moyer VA. Screening for glaucoma: U.S. preventive services task force recommendation statement. Ann Int Med. 2013;159(7):484–489. doi:10.7326/0003-4819-159-6-201309170-00686.
  • Biggerstaff KS, Frankfort BJ, Orengo-Nania S, et al. Validity of code based algorithms to identify primary open angle glaucoma (POAG) in Veterans Affairs (VA) administrative databases. Ophthalmic Epidemiol. 2018;25(2):162–168.doi:10.1080/09286586.2017.1378688.
  • Verma SS, Cooke Bailey JN, Lucas A, et al. Epistatic gene-based interaction analyses for glaucoma in eMERGE and NEIGHBOR consortium. PLoS Genet. 2016;12(9):e1006186.doi:10.1371/journal.pgen.1006186.
  • Kirby JC, Speltz P, Rasmussen LV, et al. PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability. J Am Med Inf Assoc. 2016;23(6):1046–1052.doi:10.1093/jamia/ocv202.
  • Crawford DC, Goodloe R, Farber-Eger E, et al. Leveraging epidemiologic and clinical collections for genomic studies of complex traits. Hum Hered. 2015;79(3–4):137–146.doi:10.1159/000381805.
  • Observational health data sciences and informatics. The Book of OHDSI. 2019:1–470. https://ohdsi.github.io/TheBookOfOhdsi/TheBookOfOhdsi.pdf. Accessed August 19, 2021.
  • Baxter SL, Saseendrakumar BR, Paul P. et al. Predictive analytics for glaucoma using data from the all of us research program. Am J Ophthalmol. 2021;227:74–86. doi:10.1016/J.AJO.2021.01.008.
  • Heijl A, Bengtsson B, Hyman L, Leske MC. Natural history of open-angle glaucoma. Ophthalmology. 2009;116(12):2271–2276. doi:10.1016/j.ophtha.2009.06.042.
  • Jonas JB, Budde WM, Panda-Jonas S. Ophthalmoscopic evaluation of the optic nerve head. Surv Ophthalmol. 1999;43(4):293–320. doi:10.1016/S0039-6257(98)00049-6.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.