IDEAS home Printed from https://ideas.repec.org/a/plo/pone00/0079790.html
   My bibliography  Save this article

A Common Copy Number Variation (CNV) Polymorphism in the CNTNAP4 Gene: Association with Aging in Females

Author

Listed:
  • Leonid Iakoubov
  • Malgorzata Mossakowska
  • Malgorzata Szwed
  • Zhibing Duan
  • Federico Sesti
  • Monika Puzianowska-Kuznicka

Abstract

Background: Aging is a biological process strongly determined by genetics. However, only a few single nucleotide polymorphisms (SNPs) have been reported to be consistently associated with aging. While investigating whether copy number variations (CNVs) could fill this gap, we focused on CNVs that have not been studied in previous SNP-based searches via tagging SNPs. Methods: TaqMan qPCR assays were developed to quantify 20 common CNVs in 222 senior American Caucasians in order to reveal possible association with longevity. The replication study was comprised of 1283 community-dwelling senior European Caucasians. Replicated CNVs were further investigated for association with healthy aging and aging-related diseases, while association with longevity was additionally tested in Caenorhabditis elegans. Results: In the discovery study of ≥80 vs.

Suggested Citation

  • Leonid Iakoubov & Malgorzata Mossakowska & Malgorzata Szwed & Zhibing Duan & Federico Sesti & Monika Puzianowska-Kuznicka, 2013. "A Common Copy Number Variation (CNV) Polymorphism in the CNTNAP4 Gene: Association with Aging in Females," PLOS ONE, Public Library of Science, vol. 8(11), pages 1-1, November.
    • Handle: RePEc:plo:pone00:0079790
    DOI: 10.1371/journal.pone.0079790
    as

    Download full text from publisher

    File URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079790
    Download Restriction: no
    File URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0079790&type=printable
    Download Restriction: no
    File URL: https://libkey.io/10.1371/journal.pone.0079790?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    References listed on IDEAS

    as
    1. Sharon J. Diskin & Cuiping Hou & Joseph T. Glessner & Edward F. Attiyeh & Marci Laudenslager & Kristopher Bosse & Kristina Cole & Yaël P. Mossé & Andrew Wood & Jill E. Lynch & Katlyn Pecor & Maura Dia, 2009. "Copy number variation at 1q21.1 associated with neuroblastoma," Nature, Nature, vol. 459(7249), pages 987-991, June.
    2. Donald F. Conrad & Dalila Pinto & Richard Redon & Lars Feuk & Omer Gokcumen & Yujun Zhang & Jan Aerts & T. Daniel Andrews & Chris Barnes & Peter Campbell & Tomas Fitzgerald & Min Hu & Chun Hwa Ihm & K, 2010. "Origins and functional impact of copy number variation in the human genome," Nature, Nature, vol. 464(7289), pages 704-712, April.
    3. Brian J. O’Roak & Laura Vives & Santhosh Girirajan & Emre Karakoc & Niklas Krumm & Bradley P. Coe & Roie Levy & Arthur Ko & Choli Lee & Joshua D. Smith & Emily H. Turner & Ian B. Stanaway & Benjamin V, 2012. "Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations," Nature, Nature, vol. 485(7397), pages 246-250, May.
    4. Richard Redon & Shumpei Ishikawa & Karen R. Fitch & Lars Feuk & George H. Perry & T. Daniel Andrews & Heike Fiegler & Michael H. Shapero & Andrew R. Carson & Wenwei Chen & Eun Kyung Cho & Stephanie Da, 2006. "Global variation in copy number in the human genome," Nature, Nature, vol. 444(7118), pages 444-454, November.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Gaëlle Marenne & Stephen J Chanock & Núria Malats & Emmanuelle Génin, 2013. "Advantage of Using Allele-Specific Copy Numbers When Testing for Association in Regions with Common Copy Number Variants," PLOS ONE, Public Library of Science, vol. 8(9), pages 1-1, September.
    2. Li Liu & Aniko Sabo & Benjamin M Neale & Uma Nagaswamy & Christine Stevens & Elaine Lim & Corneliu A Bodea & Donna Muzny & Jeffrey G Reid & Eric Banks & Hillary Coon & Mark DePristo & Huyen Dinh & Tim, 2013. "Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls," PLOS Genetics, Public Library of Science, vol. 9(4), pages 1-15, April.
    3. Yichen Henry Liu & Can Luo & Staunton G. Golding & Jacob B. Ioffe & Xin Maizie Zhou, 2024. "Tradeoffs in alignment and assembly-based methods for structural variant detection with long-read sequencing data," Nature Communications, Nature, vol. 15(1), pages 1-22, December.
    4. Albertas Dvirnas & Callum Stewart & Vilhelm Müller & Santosh Kumar Bikkarolla & Karolin Frykholm & Linus Sandegren & Erik Kristiansson & Fredrik Westerlund & Tobias Ambjörnsson, 2021. "Detection of structural variations in densely-labelled optical DNA barcodes: A hidden Markov model approach," PLOS ONE, Public Library of Science, vol. 16(11), pages 1-15, November.
    5. Patrick Breheny & Prabhakar Chalise & Anthony Batzler & Liewei Wang & Brooke L Fridley, 2012. "Genetic Association Studies of Copy-Number Variation: Should Assignment of Copy Number States Precede Testing?," PLOS ONE, Public Library of Science, vol. 7(4), pages 1-9, April.
    6. Deblina Banerjee & Sukriti Bagchi & Zhihui Liu & Hsien-Chao Chou & Man Xu & Ming Sun & Sara Aloisi & Zalman Vaksman & Sharon J. Diskin & Mark Zimmerman & Javed Khan & Berkley Gryder & Carol J. Thiele, 2024. "Lineage specific transcription factor waves reprogram neuroblastoma from self-renewal to differentiation," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    7. Yu Chen & Amy Y. Wang & Courtney A. Barkley & Yixin Zhang & Xinyang Zhao & Min Gao & Mick D. Edmonds & Zechen Chong, 2023. "Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
    8. Lucia Ruojia Wu & Peng Dai & Michael Xiangjiang Wang & Sherry Xi Chen & Evan N. Cohen & Gitanjali Jayachandran & Jinny Xuemeng Zhang & Angela V. Serrano & Nina Guanyi Xie & Naoto T. Ueno & James M. Re, 2022. "Ensemble of nucleic acid absolute quantitation modules for copy number variation detection and RNA profiling," Nature Communications, Nature, vol. 13(1), pages 1-9, December.
    9. Frantisek Honti & Stephen Meader & Caleb Webber, 2014. "Unbiased Functional Clustering of Gene Variants with a Phenotypic-Linkage Network," PLOS Computational Biology, Public Library of Science, vol. 10(8), pages 1-7, August.
    10. Jae Eun Lee & Jung Hye Sung & Daniel Sarpong & Jimmy T. Efird & Paul B. Tchounwou & Elizabeth Ofili & Keith Norris, 2018. "Knowledge Management for Fostering Biostatistical Collaboration within a Research Network: The RTRN Case Study," IJERPH, MDPI, vol. 15(11), pages 1-13, November.
    11. Nur Zarina Ali Hassan & Norfilza Mohd Mokhtar & Teow Kok Sin & Isa Mohamed Rose & Ismail Sagap & Roslan Harun & Rahman Jamal, 2014. "Integrated Analysis of Copy Number Variation and Genome-Wide Expression Profiling in Colorectal Cancer Tissues," PLOS ONE, Public Library of Science, vol. 9(4), pages 1-11, April.
    12. Jakub Kopal & Kuldeep Kumar & Kimia Shafighi & Karin Saltoun & Claudia Modenato & Clara A. Moreau & Guillaume Huguet & Martineau Jean-Louis & Charles-Olivier Martin & Zohra Saci & Nadine Younis & Elis, 2024. "Using rare genetic mutations to revisit structural brain asymmetry," Nature Communications, Nature, vol. 15(1), pages 1-19, December.
    13. Yang Guo & Shuzhen Wang & A. K. Alvi Haque & Xiguo Yuan, 2022. "WAVECNV: A New Approach for Detecting Copy Number Variation by Wavelet Clustering," Mathematics, MDPI, vol. 10(12), pages 1-11, June.
    14. Majid Pahlevan Kakhki & Antonino Giordano & Chiara Starvaggi Cucuzza & Tejaswi Venkata S. Badam & Samudyata Samudyata & Marianne Victoria Lemée & Pernilla Stridh & Asimenia Gkogka & Klementy Shchetyns, 2024. "A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
    15. Yu Wang & Wei Li & Yingying Xia & Chongzhi Wang & Y Tom Tang & Wenying Guo & Jinliang Li & Xia Zhao & Yepeng Sun & Juan Hu & Hefu Zhen & Xiandong Zhang & Chao Chen & Yujian Shi & Lin Li & Hongzhi Cao , 2015. "Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions," PLOS ONE, Public Library of Science, vol. 10(4), pages 1-18, April.
    16. Jingfen Lan & Ziheng Liao & A. K. Alvi Haque & Qiang Yu & Kun Xie & Yang Guo, 2024. "CNVbd: A Method for Copy Number Variation Detection and Boundary Search," Mathematics, MDPI, vol. 12(3), pages 1-15, January.
    17. Matthew D Shirley & Laurence Frelin & José Soria López & Anne Jedlicka & Amanda Dziedzic & Michelle A Frank-Crawford & Wayne Silverman & Louis Hagopian & Jonathan Pevsner, 2016. "Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior," PLOS ONE, Public Library of Science, vol. 11(3), pages 1-16, March.
    18. Lin Chang-Yun & Lo Yungtai & Ye Kenny Q., 2012. "Genotype Copy Number Variations using Gaussian Mixture Models: Theory and Algorithms," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 11(5), pages 1-26, October.
    19. Xiaolin Zhu & Raghavendra Padmanabhan & Brett Copeland & Joshua Bridgers & Zhong Ren & Sitharthan Kamalakaran & Ailbhe O'Driscoll-Collins & Samuel F Berkovic & Ingrid E Scheffer & Annapurna Poduri & D, 2017. "A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations," PLOS Genetics, Public Library of Science, vol. 13(11), pages 1-12, November.
    20. Andrew K MacLeod & Gail Davies & Antony Payton & Albert Tenesa & Sarah E Harris & David Liewald & Xiayi Ke & Michelle Luciano & Lorna M Lopez & Alan J Gow & Janie Corley & Paul Redmond & Geraldine McN, 2012. "Genetic Copy Number Variation and General Cognitive Ability," PLOS ONE, Public Library of Science, vol. 7(12), pages 1-9, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:plo:pone00:0079790. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: plosone (email available below). General contact details of provider: https://journals.plos.org/plosone/ .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.