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Page 1
Risk factors affecting polygenic score performance across diverse cohorts.
Hui D, Dudek S, Kiryluk K, Walunas TL, Kullo IJ, Wei WQ, Tiwari H, Peterson JF, Chung WK, Davis BH, Khan A, Kottyan LC, Limdi NA, Feng Q, Puckelwartz MJ, Weng C, Smith JL, Karlson EW; Regeneron Genetics Center; Penn Medicine BioBank; Jarvik GP, Ritchie MD. Hui D, et al. Among authors: kottyan lc. Elife. 2025 Jan 24;12:RP88149. doi: 10.7554/eLife.88149. Elife. 2025. PMID: 39851248 Free PMC article.
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn NS, Arias J, Belbin G, Below JE, Berndt SI, Chung WK, Cimino JJ, Clayton EW, Connolly JJ, Crosslin DR, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth RR, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon AS, Patterson C, Hakonarson H, Harden M, Harr M, Hirschhorn JN, Hoggart C, Hsu L, Irvin MR, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos RJF, Luo Y, Malolepsza E, Manolio TA, Martin LJ, McCarthy L, McNally EM, Meigs JB, Mersha TB, Mosley JD, Musick A, Namjou B, Pai N, Pesce LL, Peters U, Peterson JF, Prows CA, Puckelwartz MJ, Rehm HL, Roden DM, Rosenthal EA, Rowley R, Sawicki KT, Schaid DJ, Smit RAJ, Smith JL, Smoller JW, Thomas M, Tiwari H, Toledo DM, Vaitinadin NS, Veenstra D, Walunas TL, Wang Z, Wei WQ, Weng C, Wiesner GL, Yin X, Kenny EE. Lennon NJ, et al. Among authors: kottyan lc. Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z. Epub 2024 Feb 19. Nat Med. 2024. PMID: 38374346 Free PMC article.
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations.
Lennon NJ, Kottyan LC, Kachulis C, Abul-Husn N, Arias J, Belbin G, Below JE, Berndt S, Chung W, Cimino JJ, Clayton EW, Connolly JJ, Crosslin D, Dikilitas O, Velez Edwards DR, Feng Q, Fisher M, Freimuth R, Ge T; GIANT Consortium; All of Us Research Program; Glessner JT, Gordon A, Guiducci C, Hakonarson H, Harden M, Harr M, Hirschhorn J, Hoggart C, Hsu L, Irvin R, Jarvik GP, Karlson EW, Khan A, Khera A, Kiryluk K, Kullo I, Larkin K, Limdi N, Linder JE, Loos R, Luo Y, Malolepsza E, Manolio T, Martin LJ, McCarthy L, Meigs JB, Mersha TB, Mosley J, Namjou B, Pai N, Pesce LL, Peters U, Peterson J, Prows CA, Puckelwartz MJ, Rehm H, Roden D, Rosenthal EA, Rowley R, Sawicki KT, Schaid D, Schmidlen T, Smit R, Smith J, Smoller JW, Thomas M, Tiwari H, Toledo D, Vaitinadin NS, Veenstra D, Walunas T, Wang Z, Wei WQ, Weng C, Wiesner G, Xianyong Y, Kenny E. Lennon NJ, et al. Among authors: kottyan lc. medRxiv [Preprint]. 2023 Jun 5:2023.05.25.23290535. doi: 10.1101/2023.05.25.23290535. medRxiv. 2023. Update in: Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z. PMID: 37333246 Free PMC article. Updated. Preprint.
Expanding the genetic landscape of endometriosis: Integrative -omics analyses uncover key pathways from a multi-ancestry study of over 900,000 women.
Guare LA, Das J, Caruth L, Rajagopalan A, Akerele AT, Brumpton BM, Chen TT, Kottyan L, Lin YF, Moreno E, Mulford AJ, Rovite V, Sanders AR, Dombrovska MS, Elhadad N, Hill A, Jarvik G, Jaworski J, Luo Y, Namba S, Okada Y, Shi Y, Shirai Y, Shortt J, Wei WQ, Weng C, Yamamoto Y, Chapman S, Zhou W, Velez Edwards DR, Setia-Verma S. Guare LA, et al. medRxiv [Preprint]. 2024 Nov 29:2024.11.26.24316723. doi: 10.1101/2024.11.26.24316723. medRxiv. 2024. PMID: 39649588 Free PMC article. Preprint.
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.
Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group; Childhood Arthritis Prospective Study (CAPS) Group; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group; Biologically Based Outcome Predictors in JIA (BBOP) Group; de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium. Ombrello MJ, et al. Among authors: kottyan lc. Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15970-5. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23. Proc Natl Acad Sci U S A. 2015. PMID: 26598658 Free PMC article.
A survey of pathogenic involvement in non-communicable human diseases.
Lape M, Schnell D, Parameswaran S, Ernst K, O'Connor S, Salomonis N, Martin LJ, Harnett BM, Kottyan LC, Weirauch MT. Lape M, et al. Among authors: kottyan lc. Commun Med (Lond). 2025 Jun 20;5(1):242. doi: 10.1038/s43856-025-00956-x. Commun Med (Lond). 2025. PMID: 40542146 Free PMC article.
Multi-trait Analysis of GWAS Expands Eosinophilic Esophagitis Genetic Susceptibility and Polygenic Risk Scores.
Trimarchi MP, Namjou-Khales B, Morgenstern NB, Rochman M, Chen X, Osswald G, Besse J, Shook M, Caldwell J, Lape M, Shota T, Weirauch MT, Ruffner M, Constantine G, Martin LJ, Kottyan LC, Rothenberg ME; Consortium of Eosinophilic Gastrointestinal Disease Researchers CEGIR. Trimarchi MP, et al. Among authors: kottyan lc. Res Sq [Preprint]. 2025 May 16:rs.3.rs-6630283. doi: 10.21203/rs.3.rs-6630283/v1. Res Sq. 2025. PMID: 40470207 Free PMC article. Preprint.
Sequencing and health data resource of children of African ancestry.
Kottyan LC, Richards S, Tracy ME, Lawson LP, Cobb B, Esslinger S, Gerwe M, Morgan J, Chandel A, Travitz L, Huang Y, Black C, Sobowale A, Akintobi T, Mitchell M, Beck AF, Unaka N, Seid M, Fairbanks S, Adams M, Mersha T, Namjou B, Pauciulo MW, Strawn JR, Ammerman RT, Santel D, Pestian J, Glauser T, Prows CA, Martin LJ, Muglia L, Harley JB, Chepelev I, Kaufman KM. Kottyan LC, et al. medRxiv [Preprint]. 2025 Mar 26:2025.03.22.25324419. doi: 10.1101/2025.03.22.25324419. medRxiv. 2025. PMID: 40196241 Free PMC article. Preprint.
Update on the genetics of allergic diseases.
Lawson LP, Parameswaran S, Panganiban RA, Constantine GM, Weirauch MT, Kottyan LC. Lawson LP, et al. Among authors: kottyan lc. J Allergy Clin Immunol. 2025 Jun;155(6):1738-1752. doi: 10.1016/j.jaci.2025.03.012. Epub 2025 Mar 24. J Allergy Clin Immunol. 2025. PMID: 40139464 Free article. Review.
90 results