دورية أكاديمية
أعرض في EDS

Epigenome-wide association study of mitochondrial genome copy number.

التفاصيل البيبلوغرافية
العنوان: Epigenome-wide association study of mitochondrial genome copy number.
المؤلفون: Wang P; Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Castellani CA; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario N6A 5C1, Canada., Yao J; Department of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA., Huan T; Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Bielak LF; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA., Zhao W; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA., Haessler J; Division of Public Health Science, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA., Joehanes R; Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Sun X; Department of Biostatistics, Boston University, Boston, MA 02118, USA., Guo X; Department of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA., Longchamps RJ; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Manson JE; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA., Grove ML; Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Bressler J; Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Taylor KD; Department of Pathology and Laboratory Medicine, Western University, London, Ontario N6A 5C1, Canada., Lappalainen T; New York Genome Center, New York, NY 10013, USA.; Department of Systems Biology, Columbia University, New York, NY 10034, USA., Kasela S; New York Genome Center, New York, NY 10013, USA.; Department of Systems Biology, Columbia University, New York, NY 10034, USA., Van Den Berg DJ; Department of Population and Public Health Sciences, Center for Genetic Epidemiology, Keck School of Medicine of USC, University of Southern California, Los Angeles, CA 90033, USA., Hou L; Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Reiner A; Division of Public Health Science, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA., Liu Y; Department of Medicine, Divisions of Cardiology and Neurology, Duke University Medical Center, Durham, NC 27704, USA., Boerwinkle E; Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Smith JA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA., Peyser PA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA., Fornage M; Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.; Brown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22903, USA., Rotter JI; Department of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA., Kooperberg C; Division of Public Health Science, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA., Arking DE; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Levy D; Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Framingham Heart Study, National Heart, Lung, and Blood Institute (NHLBI), Framingham, MA 01702, USA., Liu C; Department of Biostatistics, Boston University, Boston, MA 02118, USA.; Framingham Heart Study, National Heart, Lung, and Blood Institute (NHLBI), Framingham, MA 01702, USA.
مؤلفون مشاركون: NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
المصدر: Human molecular genetics [Hum Mol Genet] 2021 Dec 27; Vol. 31 (2), pp. 309-319.
نوع المنشور: Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Oxford, England ; New York : IRL Press at Oxford University Press, c1992-
مواضيع طبية MeSH: Epigenome*/genetics , Genome, Mitochondrial*/genetics, Aged ; DNA Copy Number Variations/genetics ; DNA Methylation/genetics ; DNA, Mitochondrial/genetics ; DNA, Mitochondrial/metabolism ; Female ; Humans ; Male ; Middle Aged
مستخلص: We conducted cohort- and race-specific epigenome-wide association analyses of mitochondrial deoxyribonucleic acid (mtDNA) copy number (mtDNA CN) measured in whole blood from participants of African and European origins in five cohorts (n = 6182, mean age = 57-67 years, 65% women). In the meta-analysis of all the participants, we discovered 21 mtDNA CN-associated DNA methylation sites (CpG) (P < 1 × 10-7), with a 0.7-3.0 standard deviation increase (3 CpGs) or decrease (18 CpGs) in mtDNA CN corresponding to a 1% increase in DNA methylation. Several significant CpGs have been reported to be associated with at least two risk factors (e.g. chronological age or smoking) for cardiovascular disease (CVD). Five genes [PR/SET domain 16, nuclear receptor subfamily 1 group H member 3 (NR1H3), DNA repair protein, DNA polymerase kappa and decaprenyl-diphosphate synthase subunit 2], which harbor nine significant CpGs, are known to be involved in mitochondrial biosynthesis and functions. For example, NR1H3 encodes a transcription factor that is differentially expressed during an adipose tissue transition. The methylation level of cg09548275 in NR1H3 was negatively associated with mtDNA CN (effect size = -1.71, P = 4 × 10-8) and was positively associated with the NR1H3 expression level (effect size = 0.43, P = 0.0003), which indicates that the methylation level in NR1H3 may underlie the relationship between mtDNA CN, the NR1H3 transcription factor and energy expenditure. In summary, the study results suggest that mtDNA CN variation in whole blood is associated with DNA methylation levels in genes that are involved in a wide range of mitochondrial activities. These findings will help reveal molecular mechanisms between mtDNA CN and CVD.
(© The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
References: Hum Genet. 2014 Sep;133(9):1149-59. (PMID: 24902542)
PLoS Genet. 2015 Jul 14;11(7):e1005306. (PMID: 26172475)
Genet Epidemiol. 2010 Dec;34(8):816-34. (PMID: 21058334)
Cancer Epidemiol Biomarkers Prev. 2011 Jun;20(6):1131-45. (PMID: 21447778)
Bioinformatics. 2012 Mar 15;28(6):882-3. (PMID: 22257669)
Bioinformatics. 2009 Jul 15;25(14):1754-60. (PMID: 19451168)
Hum Genet. 2022 Jan;141(1):127-146. (PMID: 34859289)
Cell. 2008 Jul 11;134(1):112-23. (PMID: 18614015)
Am J Epidemiol. 1989 Apr;129(4):687-702. (PMID: 2646917)
Cell Death Dis. 2015 Feb 26;6:e1664. (PMID: 25719248)
BMC Bioinformatics. 2012 May 08;13:86. (PMID: 22568884)
Mol Cell Biol. 2018 Jan 16;38(3):. (PMID: 29158291)
Cell Genom. 2021 Oct 13;1(1):. (PMID: 35036986)
Nat Biotechnol. 2010 Oct;28(10):1045-8. (PMID: 20944595)
Epigenomics. 2009 Oct;1(1):177-200. (PMID: 22122642)
Wellcome Open Res. 2022 Feb 4;7:41. (PMID: 35592546)
Genome Biol. 2017 Jan 25;18(1):16. (PMID: 28122634)
Rev Neurol (Paris). 1991;147(6-7):417-30. (PMID: 1962047)
Epigenomics. 2012 Feb;4(1):17-27. (PMID: 22332655)
Mitochondrion. 2015 Jan;20:13-21. (PMID: 25446395)
Genome Biol. 2015 Jan 22;16:8. (PMID: 25651499)
Control Clin Trials. 1998 Feb;19(1):61-109. (PMID: 9492970)
Haematologica. 2013 Oct;98(10):1487-9. (PMID: 24091925)
Prev Med. 1975 Dec;4(4):518-25. (PMID: 1208363)
Nat Biotechnol. 2010 Oct;28(10):1057-68. (PMID: 20944598)
Cell Metab. 2007 Jul;6(1):38-54. (PMID: 17618855)
J Mol Neurosci. 2008 Jul;35(3):283-7. (PMID: 18566918)
Cancer Res. 2017 Nov 15;77(22):6202-6214. (PMID: 28663334)
Mol Cell Biochem. 2012 Jun;365(1-2):343-50. (PMID: 22411737)
J Am Soc Nephrol. 2016 Aug;27(8):2467-73. (PMID: 26794963)
Am J Epidemiol. 2002 Nov 1;156(9):871-81. (PMID: 12397006)
Nat Genet. 2013 Aug;45(8):899-901. (PMID: 23770607)
Nature. 2012 Sep 6;489(7414):57-74. (PMID: 22955616)
J Biol Chem. 2010 Jun 18;285(25):18984-90. (PMID: 20413593)
Mol Microbiol. 2009 Jan;71(1):185-97. (PMID: 19007414)
Genomics. 2011 Oct;98(4):288-95. (PMID: 21839163)
Neuropsychopharmacology. 2013 Jan;38(1):23-38. (PMID: 22781841)
Biochim Biophys Acta. 2012 Sep-Oct;1819(9-10):970-8. (PMID: 22207204)
BMC Genomics. 2015 Mar 19;16:215. (PMID: 25887780)
Am J Med. 2004 May 15;116(10):676-81. (PMID: 15121494)
Nature. 2002 Aug 8;418(6898):650-4. (PMID: 12167864)
Proc Natl Acad Sci U S A. 2005 Apr 12;102(15):5618-23. (PMID: 15800038)
PLoS Genet. 2008 Apr 25;4(4):e1000061. (PMID: 18437205)
Bioinformatics. 2017 Jan 15;33(2):272-279. (PMID: 27663502)
Bioinformatics. 2019 Nov 1;35(22):4767-4769. (PMID: 31161210)
Cell Signal. 2007 Aug;19(8):1633-42. (PMID: 17537614)
Biometrics. 1999 Dec;55(4):997-1004. (PMID: 11315092)
Genome Med. 2020 Sep 28;12(1):84. (PMID: 32988399)
Obes Surg. 2002 Jun;12(3):324-7. (PMID: 12082881)
Genome Res. 2021 Mar;31(3):349-358. (PMID: 33441415)
PLoS One. 2020 Jan 31;15(1):e0228166. (PMID: 32004343)
Nat Rev Genet. 2005 May;6(5):389-402. (PMID: 15861210)
Cell. 2012 Mar 16;148(6):1145-59. (PMID: 22424226)
Mitochondrion. 2014 Jul;17:14-21. (PMID: 24836434)
Neurobiol Aging. 2016 Feb;38:216.e7-216.e10. (PMID: 26639155)
Am J Epidemiol. 2007 Jun 1;165(11):1328-35. (PMID: 17372189)
J Genet Genomics. 2009 Mar;36(3):125-31. (PMID: 19302968)
Epigenetics Chromatin. 2013 Mar 03;6(1):4. (PMID: 23452981)
J Biol Chem. 2000 Feb 4;275(5):3343-7. (PMID: 10652323)
Bioinformatics. 2010 Nov 15;26(22):2849-55. (PMID: 20880956)
Cancer Res. 2018 Aug 15;78(16):4471-4481. (PMID: 29967258)
Nucleic Acids Res. 2019 Jan 8;47(D1):D419-D426. (PMID: 30407594)
PLoS Genet. 2007 Sep;3(9):1724-35. (PMID: 17907809)
Genes Dev. 2013 Dec 15;27(24):2615-27. (PMID: 24352419)
Blood. 1994 Dec 15;84(12):4186-94. (PMID: 7994032)
JAMA Cardiol. 2017 Nov 1;2(11):1247-1255. (PMID: 29049454)
Arterioscler Thromb Vasc Biol. 2013 Jun;33(6):1418-26. (PMID: 23539218)
Nat Struct Mol Biol. 2013 Mar;20(3):274-81. (PMID: 23463312)
Epigenetics Chromatin. 2018 Sep 12;11(1):53. (PMID: 30208958)
Bioinformatics. 2005 Mar;21(6):730-40. (PMID: 15509613)
Elife. 2016 Feb 22;5:. (PMID: 26901439)
Epigenetics. 2013 Feb;8(2):203-9. (PMID: 23314698)
Oncotarget. 2018 May 4;9(34):23334-23348. (PMID: 29805737)
Nature. 2021 Feb;590(7845):290-299. (PMID: 33568819)
Nat Commun. 2019 Sep 19;10(1):4267. (PMID: 31537805)
Autophagy. 2009 Jan;5(1):19-32. (PMID: 19115482)
معلومات مُعتمدة: R01 HL120393 United States HL NHLBI NIH HHS; U01 DK062413 United States DK NIDDK NIH HHS; U01 HL120393 United States HL NHLBI NIH HHS; R01 HL105756 United States HL NHLBI NIH HHS; HHSN268201800001C United States HL NHLBI NIH HHS; R01 AG059727 United States AG NIA NIH HHS; R01 HL133221 United States HL NHLBI NIH HHS; R01 HL144569 United States HL NHLBI NIH HHS; R01 HL131573 United States HL NHLBI NIH HHS; R01 HL117626 United States HL NHLBI NIH HHS; R01 HL155569 United States HL NHLBI NIH HHS
المشرفين على المادة: 0 (DNA, Mitochondrial)
تواريخ الأحداث: Date Created: 20210820 Date Completed: 20220407 Latest Revision: 20240405
رمز التحديث: 20240405
مُعرف محوري في PubMed: PMC8742999
DOI: 10.1093/hmg/ddab240
PMID: 34415308
قاعدة البيانات: MEDLINE
الوصف
تدمد:1460-2083
DOI:10.1093/hmg/ddab240