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Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association.
O'Sullivan JW, Raghavan S, Marquez-Luna C, Luzum JA, Damrauer SM, Ashley EA, O'Donnell CJ, Willer CJ, Natarajan P; American Heart Association Council on Genomic and Precision Medicine; Council on Clinical Cardiology; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular Radiology and Intervention; Council on Lifestyle and Cardiometabolic Health; and Council on Peripheral Vascular Disease. O'Sullivan JW, et al. Among authors: marquez luna c. Circulation. 2022 Aug 23;146(8):e93-e118. doi: 10.1161/CIR.0000000000001077. Epub 2022 Jul 18. Circulation. 2022. PMID: 35862132 Free PMC article. Review.
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB; GoT2D Consortium; NHGRI JHS/FHS Allelic Spectrum Project; SIGMA T2D Consortium; T2D-GENES Consortium; Rosen ED, Altshuler D. Majithia AR, et al. Proc Natl Acad Sci U S A. 2014 Sep 9;111(36):13127-32. doi: 10.1073/pnas.1410428111. Epub 2014 Aug 25. Proc Natl Acad Sci U S A. 2014. PMID: 25157153 Free PMC article.
Genome-wide polygenic risk score for retinopathy of type 2 diabetes.
Forrest IS, Chaudhary K, Paranjpe I, Vy HMT, Marquez-Luna C, Rocheleau G, Saha A, Chan L, Van Vleck T, Loos RJF, Cho J, Pasquale LR, Nadkarni GN, Do R. Forrest IS, et al. Hum Mol Genet. 2021 May 29;30(10):952-960. doi: 10.1093/hmg/ddab067. Hum Mol Genet. 2021. PMID: 33704450 Free PMC article.
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
SIGMA Type 2 Diabetes Consortium; Williams AL, Jacobs SB, Moreno-Macías H, Huerta-Chagoya A, Churchhouse C, Márquez-Luna C, García-Ortíz H, Gómez-Vázquez MJ, Burtt NP, Aguilar-Salinas CA, González-Villalpando C, Florez JC, Orozco L, Haiman CA, Tusié-Luna T, Altshuler D. SIGMA Type 2 Diabetes Consortium, et al. Nature. 2014 Feb 6;506(7486):97-101. doi: 10.1038/nature12828. Epub 2013 Dec 25. Nature. 2014. PMID: 24390345 Free PMC article.
Reconciling S-LDSC and LDAK functional enrichment estimates.
Gazal S, Marquez-Luna C, Finucane HK, Price AL. Gazal S, et al. Nat Genet. 2019 Aug;51(8):1202-1204. doi: 10.1038/s41588-019-0464-1. Nat Genet. 2019. PMID: 31285579 Free PMC article. No abstract available.
22 results