Epigenome-wide analysis identifies genes and pathways linked to acoustic cry variation in preterm infants

被引:5
作者
Aghagoli, Ghazal [1 ,2 ,3 ]
Sheinkopf, Stephen J. [1 ,2 ,3 ,4 ]
Everson, Todd M. [5 ]
Marsit, Carmen J. [5 ]
Lee, Hannah [1 ,3 ]
Burt, Amber A. [5 ]
Carter, Brian S. [6 ]
Helderman, Jennifer B. [7 ]
Hofheimer, Julie A. [8 ]
McGowan, Elisabeth C. [1 ,2 ,3 ]
Neal, Charles R. [9 ]
O'Shea, T. Michael [8 ]
Pastyrnak, Steven L. [10 ]
Smith, Lynne M. [11 ]
Soliman, Antoine [12 ]
Dansereau, Lynne M. [1 ,3 ]
DellaGrotta, Sheri A. [1 ,3 ]
Padbury, James F. [2 ,3 ]
Lester, Barry M. [1 ,2 ,3 ,4 ]
机构
[1] Brown Ctr Study Children Risk, Providence, RI 02908 USA
[2] Brown Univ, Dept Pediat, Warren Alpert Med Sch, Providence, RI 02912 USA
[3] Hosp Rhode Isl, Dept Pediat Women & Infants, Providence, RI 02903 USA
[4] Brown Univ, Dept Psychiat & Human Behav, Warren Alpert Med Sch, Providence, RI 02912 USA
[5] Emory Univ, Rollins Sch Publ Hlth, Gangarosa Dept Environm Hlth, Atlanta, GA 30322 USA
[6] Childrens Mercy Hosp, Dept Pediat Neonatol, Kansas City, MO 64108 USA
[7] Wake Forest Sch Med, Dept Pediat, Winston Salem, NC 27101 USA
[8] Univ N Carolina, Dept Pediat, Sch Med, Chapel Hill, NC 27515 USA
[9] Univ Hawaii, John A Burns Sch Med, Dept Pediat, Honolulu, HI 96822 USA
[10] Spectrum Hlth Helen DeVos Hosp, Dept Pediat, Grand Rapids, MI USA
[11] Harbor UCLA Med Ctr, Lundquist Inst, Dept Pediat, Torrance, CA 90509 USA
[12] Miller Childrens & Womens Hosp Long Beach, Dept Pediat, Long Beach, CA USA
基金
美国国家卫生研究院;
关键词
NEURODEVELOPMENTAL OUTCOMES; PHOSPHATASE; RISK; TERM;
D O I
10.1038/s41390-020-01172-0
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Background Preterm birth places infants at higher risk of adverse long-term behavioral and cognitive outcomes. Combining biobehavioral measures and molecular biomarkers may improve tools to predict the risk of long-term developmental delays. Methods The Neonatal Neurobehavior and Outcomes in Very Preterm Infants study was conducted at nine neonatal intensive care units between April 2014 and June 2016. Cries were recorded and buccal swabs collected during the neurobehavioral exam. Cry episodes were extracted and analyzed using a computer system and the data were summarized using factor analysis. Genomic DNA was extracted from buccal swabs, quantified using the Qubit Fluorometer, and aliquoted into standardized concentrations. DNA methylation was measured with the Illumina MethylationEPIC BeadArray, and an epigenome-wide association study was performed using cry factors (n = 335). Results Eighteen CpGs were associated with the cry factors at genome-wide significance (alpha = 7.08E - 09). Two CpG sites, one intergenic and one linked to geneTCF3(important for B and T lymphocyte development), were associated with acoustic measures of cry energy. Increased methylation of TCF3 was associated with a lower energy-related cry factor. We also found that pitch (F-0) and hyperpitch (F-0 > 1 kHz) were associated with DNA methylation variability at 16 CpG sites. Conclusions Acoustic cry characteristics are related to variation in DNA methylation in preterm infants. Impact Preterm birth is a major public health problem and its long-term impact on health is not well understood. Cry acoustics, related to prematurity, has been linked to a variety of medical conditions. Biobehavioral measures and molecular biomarkers can improve prediction tools for long-term developmental risks of preterm birth. Variation in epigenetic modulation in preterm infants provides a potential link between preterm birth and unfavorable developmental outcomes.
引用
收藏
页码:1848 / 1854
页数:7
相关论文
共 34 条
[1]   Neurodevelopmental Outcomes of Infants Born at <29 Weeks of Gestation Admitted to Canadian Neonatal Intensive Care Units Based on Location of Birth [J].
Amer, Reem ;
Moddemann, Diane ;
Seshia, Mary ;
Alvaro, Ruben ;
Synnes, Anne ;
Lee, Kyong-Soon ;
Lee, Shoo K. ;
Shah, Prakesh S. .
JOURNAL OF PEDIATRICS, 2018, 196 :31-+
[2]   Neurodevelopmental Outcomes of Infants Born Prematurely [J].
Aylward, Glen P. .
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS, 2014, 35 (06) :394-407
[3]   Paralemmin interacts with D3 dopamine receptors: Implications for membrane localization and cAMP signaling [J].
Basile, M ;
Lin, RW ;
Kabbani, N ;
Karpa, K ;
Kilimann, M ;
Simpson, I ;
Kester, M .
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 2006, 446 (01) :60-68
[4]  
Behrman RE., 2007, Preterm Birth: Causes, Consequences, and Prevention, DOI [10.17226/11622, DOI 10.17226/11622]
[5]   The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 [J].
Buniello, Annalisa ;
MacArthur, Jacqueline A. L. ;
Cerezo, Maria ;
Harris, Laura W. ;
Hayhurst, James ;
Malangone, Cinzia ;
McMahon, Aoife ;
Morales, Joannella ;
Mountjoy, Edward ;
Sollis, Elliot ;
Suveges, Daniel ;
Vrousgou, Olga ;
Whetzel, Patricia L. ;
Amode, Ridwan ;
Guillen, Jose A. ;
Riat, Harpreet S. ;
Trevanion, Stephen J. ;
Hall, Peggy ;
Junkins, Heather ;
Flicek, Paul ;
Burdett, Tony ;
Hindorff, Lucia A. ;
Cunningham, Fiona ;
Parkinson, Helen .
NUCLEIC ACIDS RESEARCH, 2019, 47 (D1) :D1005-D1012
[6]  
Child Mind Institute, 2019, HOLL 4 FACT IND SOC
[7]   Epigenome-wide Analysis Identifies Genes and Pathways Linked to Neurobehavioral Variation in Preterm Infants [J].
Everson, Todd M. ;
Marsit, Carmen J. ;
O'Shea, T. Michael ;
Burt, Amber ;
Hermetz, Karen ;
Carter, Brian S. ;
Helderman, Jennifer ;
Hofheimer, Julie A. ;
McGowan, Elisabeth C. ;
Neal, Charles R. ;
Pastyrnak, Steven L. ;
Smith, Lynne M. ;
Soliman, Antoine ;
DellaGrotta, Sheri A. ;
Dansereau, Lynne M. ;
Padbury, James F. ;
Lester, Barry M. .
SCIENTIFIC REPORTS, 2019, 9 (1)
[8]   CDC14A phosphatase is essential for hearing and male fertility in mouse and human [J].
Imtiaz, Ayesha ;
Belyantseva, Inna A. ;
Beirl, Alisha J. ;
Fenollar-Ferrer, Cristina ;
Bashir, Rasheeda ;
Bukhari, Ihtisham ;
Bouzid, Amal ;
Shaukat, Uzma ;
Azaiez, Hela ;
Booth, Kevin T. ;
Kahrizi, Kimia ;
Najmabadi, Hossein ;
Maqsood, Azra ;
Wilson, Elizabeth A. ;
Fitzgerald, Tracy S. ;
Tlili, Abdelaziz ;
Olszewski, Rafal ;
Lund, Merete ;
Chaudhry, Taimur ;
Rehman, Atteeq U. ;
Starost, Matthew F. ;
Waryah, Ali M. ;
Hoa, Michael ;
Dong, Lijin ;
Morell, Robert J. ;
Smith, Richard J. H. ;
Riazuddin, Sheikh ;
Masmoudi, Saber ;
Kindt, Katie S. ;
Naz, Sadaf ;
Friedman, Thomas B. .
HUMAN MOLECULAR GENETICS, 2018, 27 (05) :780-798
[9]   Accounting for cellular heterogeneity is critical in epigenome-wide association studies [J].
Jaffe, Andrew E. ;
Irizarry, Rafael A. .
GENOME BIOLOGY, 2014, 15 (02)
[10]   Mammalian EAK-7 activates alternative mTOR signaling to regulate cell proliferation and migration [J].
Joe Truong Nguyen ;
Ray, Connor ;
Fox, Alexandra Lucienne ;
Mendonca, Daniela Baccelli ;
Kim, Jin Koo ;
Krebsbach, Paul H. .
SCIENCE ADVANCES, 2018, 4 (05)