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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.
Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts.
Zhang Y, Liu X, Wiggins KL, Kurniansyah N, Guo X, Rodrigue AL, Zhao W, Yanek LR, Ratliff SM, Pitsillides A, Aguirre Patiño JS, Sofer T, Arking DE, Austin TR, Beiser AS, Blangero J, Boerwinkle E, Bressler J, Curran JE, Hou L, Hughes TM, Kardia SLR, Launer LJ, Levy D, Mosley TH, Nasrallah IM, Rich SS, Rotter JI, Seshadri S, Tarraf W, González KA, Ramachandran V, Yaffe K, Nyquist PA, Psaty BM, DeCarli CS, Smith JA, Glahn DC, González HM, Bis JC, Fornage M, Heckbert SR, Fitzpatrick AL, Liu C, Satizabal CL; NHLBI Trans-Omics for Precision Medicine (TOPMed) program, Mitochondrial and Neurocognitive Working Groups. Zhang Y, et al. Neurology. 2023 May 2;100(18):e1930-e1943. doi: 10.1212/WNL.0000000000207157. Epub 2023 Mar 16. Neurology. 2023. PMID: 36927883 Free PMC article.
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.
Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry.
Liu C, Fetterman JL, Qian Y, Sun X, Blackwell TW, Pitsillides A, Cade BE, Wang H, Raffield LM, Lange LA, Anugu P, Abecasis G, Adrienne Cupples L, Redline S, Correa A, Vasan RS, Wilson JG, Ding J, Levy D; NHLBI Trans-Omics for Precision Medicine TOPMed Consortium. Liu C, et al. Mitochondrion. 2021 Sep;60:33-42. doi: 10.1016/j.mito.2021.07.004. Epub 2021 Jul 21. Mitochondrion. 2021. PMID: 34303007 Free PMC article.
Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA.
Chen R, Aldred MA, Xu W, Zein J, Bazeley P, Comhair SAA, Meyers DA, Bleecker ER, Liu C, Erzurum SC, Hu B; NHLBI Severe Asthma Research Program (SARP). Chen R, et al. Mitochondrion. 2021 May;58:303-310. doi: 10.1016/j.mito.2021.01.006. Epub 2021 Jan 26. Mitochondrion. 2021. PMID: 33513442 Free PMC article.
Association of mitochondrial DNA copy number with cardiometabolic diseases.
Liu X, Longchamps RJ, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, Blackwell TW, Yao J, Guo X, Kurniansyah N, Thyagarajan B, Pankratz N, Rich SS, Taylor KD, Peyser PA, Heckbert SR, Seshadri S, Cupples LA, Boerwinkle E, Grove ML, Larson NB, Smith JA, Vasan RS, Sofer T, Fitzpatrick AL, Fornage M, Ding J, Correa A, Abecasis G, Psaty BM, Wilson JG, Levy D, Rotter JI, Bis JC; TOPMed mtDNA Working Group in NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Satizabal CL, Arking DE, Liu C. Liu X, et al. Cell Genom. 2021 Oct 13;1(1):100006. doi: 10.1016/j.xgen.2021.100006. Cell Genom. 2021. PMID: 35036986 Free PMC article.
Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs.
Castellani CA, Longchamps RJ, Sumpter JA, Newcomb CE, Lane JA, Grove ML, Bressler J, Brody JA, Floyd JS, Bartz TM, Taylor KD, Wang P, Tin A, Coresh J, Pankow JS, Fornage M, Guallar E, O'Rourke B, Pankratz N, Liu C, Levy D, Sotoodehnia N, Boerwinkle E, Arking DE. Castellani CA, et al. Genome Med. 2020 Sep 28;12(1):84. doi: 10.1186/s13073-020-00778-7. Genome Med. 2020. PMID: 32988399 Free PMC article.