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10 Years of GWAS Discovery: Biology, Function, and Translation.

American journal of human genetics

Visscher PM, Wray NR, Zhang Q, Sklar P, McCarthy MI, Brown MA, Yang J.
PMID: 28686856
Am J Hum Genet. 2017 Jul 06;101(1):5-22. doi: 10.1016/j.ajhg.2017.06.005.

Application of the experimental design of genome-wide association studies (GWASs) is now 10 years old (young), and here we review the remarkable range of discoveries it has facilitated in population and complex-trait genetics, the biology of diseases, and translation...

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Visscher PM, Wray NR, Zhang Q, et al. 10 Years of GWAS Discovery: Biology, Function, and Translation. Am J Hum Genet. 2017;101(1):5-22doi: 10.1016/j.ajhg.2017.06.005.
Visscher, P. M., Wray, N. R., Zhang, Q., Sklar, P., McCarthy, M. I., Brown, M. A., & Yang, J. (2017). 10 Years of GWAS Discovery: Biology, Function, and Translation. American journal of human genetics, 101(1), 5-22. https://doi.org/10.1016/j.ajhg.2017.06.005
Visscher, Peter M, et al. "10 Years of GWAS Discovery: Biology, Function, and Translation." American journal of human genetics vol. 101,1 (2017): 5-22. doi: https://doi.org/10.1016/j.ajhg.2017.06.005
Visscher PM, Wray NR, Zhang Q, Sklar P, McCarthy MI, Brown MA, Yang J. 10 Years of GWAS Discovery: Biology, Function, and Translation. Am J Hum Genet. 2017 Jul 06;101(1):5-22. doi: 10.1016/j.ajhg.2017.06.005. PMID: 28686856; PMCID: PMC5501872.
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Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine.

Endocrine reviews

Udler MS, McCarthy MI, Florez JC, Mahajan A.
PMID: 31322649
Endocr Rev. 2019 Dec 01;40(6):1500-1520. doi: 10.1210/er.2019-00088.

During the last decade, there have been substantial advances in the identification and characterization of DNA sequence variants associated with individual predisposition to type 1 and type 2 diabetes. As well as providing insights into the molecular, cellular, and...

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Udler MS, McCarthy MI, Florez JC, et al. Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine. Endocr Rev. 2019;40(6):1500-1520doi: 10.1210/er.2019-00088.
Udler, M. S., McCarthy, M. I., Florez, J. C., & Mahajan, A. (2019). Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine. Endocrine reviews, 40(6), 1500-1520. https://doi.org/10.1210/er.2019-00088
Udler, Miriam S, et al. "Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine." Endocrine reviews vol. 40,6 (2019): 1500-1520. doi: https://doi.org/10.1210/er.2019-00088
Udler MS, McCarthy MI, Florez JC, Mahajan A. Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine. Endocr Rev. 2019 Dec 01;40(6):1500-1520. doi: 10.1210/er.2019-00088. PMID: 31322649; PMCID: PMC6760294.
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DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures.

Clinical epigenetics

Gomez-Alonso MDC, Kretschmer A, Wilson R, Pfeiffer L, Karhunen V, Seppälä I, Zhang W, Mittelstraß K, Wahl S, Matias-Garcia PR, Prokisch H, Horn S, Meitinger T, Serrano-Garcia LR, Sebert S, Raitakari O, Loh M, Rathmann W, Müller-Nurasyid M, Herder C, Roden M, Hurme M, Jarvelin MR, Ala-Korpela M, Kooner JS, Peters A, Lehtimäki T, Chambers JC, Gieger C, Kettunen J, Waldenberger M.
PMID: 33413638
Clin Epigenetics. 2021 Jan 07;13(1):7. doi: 10.1186/s13148-020-00957-8.

BACKGROUND: The discovery of robust and trans-ethnically replicated DNA methylation markers of metabolic phenotypes, has hinted at a potential role of epigenetic mechanisms in lipid metabolism. However, DNA methylation and the lipid compositions and lipid concentrations of lipoprotein sizes...

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Gomez-Alonso MDC, Kretschmer A, Wilson R, et al. DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures. Clin Epigenetics. 2021;13(1):7doi: 10.1186/s13148-020-00957-8.
Gomez-Alonso, M. D. C., Kretschmer, A., Wilson, R., Pfeiffer, L., Karhunen, V., Seppälä, I., Zhang, W., Mittelstraß, K., Wahl, S., Matias-Garcia, P. R., Prokisch, H., Horn, S., Meitinger, T., Serrano-Garcia, L. R., Sebert, S., Raitakari, O., Loh, M., Rathmann, W., Müller-Nurasyid, M., Herder, C., Roden, M., Hurme, M., Jarvelin, M. R., Ala-Korpela, M., Kooner, J. S., Peters, A., Lehtimäki, T., Chambers, J. C., Gieger, C., Kettunen, J., & Waldenberger, M. (2021). DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures. Clinical epigenetics, 13(1), 7. https://doi.org/10.1186/s13148-020-00957-8
Gomez-Alonso, Monica Del C, et al. "DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures." Clinical epigenetics vol. 13,1 (2021): 7. doi: https://doi.org/10.1186/s13148-020-00957-8
Gomez-Alonso MDC, Kretschmer A, Wilson R, Pfeiffer L, Karhunen V, Seppälä I, Zhang W, Mittelstraß K, Wahl S, Matias-Garcia PR, Prokisch H, Horn S, Meitinger T, Serrano-Garcia LR, Sebert S, Raitakari O, Loh M, Rathmann W, Müller-Nurasyid M, Herder C, Roden M, Hurme M, Jarvelin MR, Ala-Korpela M, Kooner JS, Peters A, Lehtimäki T, Chambers JC, Gieger C, Kettunen J, Waldenberger M. DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures. Clin Epigenetics. 2021 Jan 07;13(1):7. doi: 10.1186/s13148-020-00957-8. PMID: 33413638; PMCID: PMC7789600.
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Identification of rare loss of function genetic variation regulating body fat distribution.

The Journal of clinical endocrinology and metabolism

Koprulu M, Zhao Y, Wheeler E, Dong L, Rocha N, Li C, Griffin JD, Patel S, Van de Streek M, Glastonbury CA, Stewart ID, Felix RD, Luan J, Bowker N, Wittemans LBL, Kerrison ND, Cai L, Lucarelli DME, Barroso I, McCarthy MI, Scott RA, Saudek V, Kerrin SS, Wareham NJ, Semple RK, Perry JRB, O'Rahilly S, Lotta LA, Langenberg C, Savage DB.
PMID: 34875679
J Clin Endocrinol Metab. 2021 Dec 07; doi: 10.1210/clinem/dgab877. Epub 2021 Dec 07.

CONTEXT: Biological and translational insights from large-scale, array-based genetic studies of fat distribution, a key determinant of metabolic health, have been limited by the difficulty in linking predominantly non-coding variants to specific gene targets. Rare coding variant analyses provide...

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Koprulu M, Zhao Y, Wheeler E, et al. Identification of rare loss of function genetic variation regulating body fat distribution. J Clin Endocrinol Metab. 2021;doi: 10.1210/clinem/dgab877.
Koprulu, M., Zhao, Y., Wheeler, E., Dong, L., Rocha, N., Li, C., Griffin, J. D., Patel, S., Van de Streek, M., Glastonbury, C. A., Stewart, I. D., Felix, R. D., Luan, J., Bowker, N., Wittemans, L. B. L., Kerrison, N. D., Cai, L., Lucarelli, D. M. E., Barroso, I., McCarthy, M. I., Scott, R. A., Saudek, V., Kerrin, S. S., Wareham, N. J., Semple, R. K., Perry, J. R. B., O'Rahilly, S., Lotta, L. A., Langenberg, C., & Savage, D. B. (2021). Identification of rare loss of function genetic variation regulating body fat distribution. The Journal of clinical endocrinology and metabolism, . https://doi.org/10.1210/clinem/dgab877
Koprulu, Mine, et al. "Identification of rare loss of function genetic variation regulating body fat distribution." The Journal of clinical endocrinology and metabolism vol. (2021). doi: https://doi.org/10.1210/clinem/dgab877
Koprulu M, Zhao Y, Wheeler E, Dong L, Rocha N, Li C, Griffin JD, Patel S, Van de Streek M, Glastonbury CA, Stewart ID, Felix RD, Luan J, Bowker N, Wittemans LBL, Kerrison ND, Cai L, Lucarelli DME, Barroso I, McCarthy MI, Scott RA, Saudek V, Kerrin SS, Wareham NJ, Semple RK, Perry JRB, O'Rahilly S, Lotta LA, Langenberg C, Savage DB. Identification of rare loss of function genetic variation regulating body fat distribution. J Clin Endocrinol Metab. 2021 Dec 07; doi: 10.1210/clinem/dgab877. Epub 2021 Dec 07. PMID: 34875679.
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