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Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.
Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, Van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, Mak ACY, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE. Longchamps RJ, et al. Hum Genet. 2022 Jan;141(1):127-146. doi: 10.1007/s00439-021-02394-w. Epub 2021 Dec 2. Hum Genet. 2022. PMID: 34859289 Free PMC article.
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
Hong YS, Battle SL, Shi W, Puiu D, Pillalamarri V, Xie J, Pankratz N, Lake NJ, Lek M, Rotter JI, Rich SS, Kooperberg C, Reiner AP, Auer PL, Heard-Costa N, Liu C, Lai M, Murabito JM, Levy D, Grove ML, Alonso A, Gibbs R, Dugan-Perez S, Gondek LP, Guallar E, Arking DE. Hong YS, et al. Nat Commun. 2023 Sep 30;14(1):6113. doi: 10.1038/s41467-023-41785-7. Nat Commun. 2023. PMID: 37777527 Free PMC article.
Quantifying constraint in the human mitochondrial genome.
Lake NJ, Ma K, Liu W, Battle SL, Laricchia KM, Tiao G, Puiu D, Ng KK, Cohen J, Compton AG, Cowie S, Christodoulou J, Thorburn DR, Zhao H, Arking DE, Sunyaev SR, Lek M. Lake NJ, et al. Nature. 2024 Nov;635(8038):390-397. doi: 10.1038/s41586-024-08048-x. Epub 2024 Oct 16. Nature. 2024. PMID: 39415008
Epigenome-wide association study of mitochondrial genome copy number.
Wang P, Castellani CA, Yao J, Huan T, Bielak LF, Zhao W, Haessler J, Joehanes R, Sun X, Guo X, Longchamps RJ, Manson JE, Grove ML, Bressler J, Taylor KD, Lappalainen T, Kasela S, Van Den Berg DJ, Hou L, Reiner A, Liu Y, Boerwinkle E, Smith JA, Peyser PA, Fornage M, Rich SS, Rotter JI, Kooperberg C, Arking DE, Levy D, Liu C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Wang P, et al. Hum Mol Genet. 2021 Dec 27;31(2):309-319. doi: 10.1093/hmg/ddab240. Hum Mol Genet. 2021. PMID: 34415308 Free PMC article.
Mitochondrial DNA Copy Number Variation in Asthma Risk, Severity, and Exacerbations.
Xu W, Hong YS, Hu B, Comhair SAA, Janocha AJ, Zein JG, Chen R, Meyers DA, Mauger DT, Ortega VE, Bleecker ER, Castro M, Denlinger LC, Fahy JV, Israel E, Levy BD, Jarjour NN, Moore WC, Wenzel SE, Gaston B, Liu C, Arking DE, Erzurum SC; National Heart, Lung, and Blood Institute (NHLBI) Severe Asthma Research Program (SARP) and TOPMed mtDNA Working Group in NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Xu W, et al. medRxiv [Preprint]. 2023 Dec 5:2023.12.05.23299392. doi: 10.1101/2023.12.05.23299392. medRxiv. 2023. Update in: J Allergy Clin Immunol. 2024 Sep 3:S0091-6749(24)00906-0. doi: 10.1016/j.jaci.2024.08.022 PMID: 38106101 Free PMC article. Updated. Preprint.
15 results