Fetal mutations and preterm birth

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Preterm birth is a prevalent pregnancy condition and leads to substantial morbidity and mortality. Its genetic association has been well observed, but the underlying etiology remains unclear. Current research has been focused on identifying risk factors in maternal genomes. In this study, we tested an unexplored hypothesis that preterm birth could be independently influenced by fetal genomes. We analyzed fetal de novo mutations, those not inherited from parents, from 816 trio families, and found preterm infants tended to have increased de novo mutation rates compared to infants born at term. Importantly, we also observed that these preterm-associated de novo mutations preferentially affect dosage sensitive genes that are essential in embryonic development, and these affected genes are involved in early fetal brain development. Overall, our study for the first time showed the fetal genetic contribution to preterm birth, and suggested abnormal fetal development as a potential cause for preterm birth.

Vyšlo v časopise: Fetal mutations and preterm birth. PLoS Genet 13(4): e32767. doi:10.1371/journal.pgen.1006689
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1006689

Souhrn

Zdroje

1. Muglia LJ, Katz M. The enigma of spontaneous preterm birth. N Engl J Med. 2010;362(6):529–35. doi: 10.1056/NEJMra0904308 20147718

2. Goldenberg RL, Culhane JF, Iams JD, Romero R. Epidemiology and causes of preterm birth. Lancet. 2008;371(9606):75–84. doi: 10.1016/S0140-6736(08)60074-4 18177778

3. Romero R, Dey SK, Fisher SJ. Preterm labor: one syndrome, many causes. Science. 2014;345(6198):760–5. PubMed Central PMCID: PMCPMC4191866. doi: 10.1126/science.1251816 25124429

4. Wallenstein MB, Shaw GM, Stevenson DK. Preterm Birth as a Calendar Event or Immunologic Anomaly. JAMA Pediatr. 2016;170(6):525–6. doi: 10.1001/jamapediatrics.2016.0213 27089062

5. Kyrklund-Blomberg NB, Granath F, Cnattingius S. Maternal smoking and causes of very preterm birth. Acta Obstet Gynecol Scand. 2005;84(6):572–7. doi: 10.1111/j.0001-6349.2005.00848.x 15901269

6. Morken NH, Kallen K, Hagberg H, Jacobsson B. Preterm birth in Sweden 1973–2001: rate, subgroups, and effect of changing patterns in multiple births, maternal age, and smoking. Acta Obstet Gynecol Scand. 2005;84(6):558–65. doi: 10.1111/j.0001-6349.2005.00765.x 15901267

7. Clausson B, Lichtenstein P, Cnattingius S. Genetic influence on birthweight and gestational length determined by studies in offspring of twins. BJOG. 2000;107(3):375–81.

8. Treloar SA, Macones GA, Mitchell LE, Martin NG. Genetic influences on premature parturition in an Australian twin sample. Twin Res. 2000;3(2):80–2. 10918619

9. Wu W, Witherspoon DJ, Fraser A, Clark EA, Rogers A, Stoddard GJ, et al. The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth. Hum Genet. 2015;134(7):803–8. PubMed Central PMCID: PMCPMC4678031. doi: 10.1007/s00439-015-1558-1 25920518

10. Winkvist A, Mogren I, Hogberg U. Familial patterns in birth characteristics: impact on individual and population risks. Int J Epidemiol. 1998;27(2):248–54. 9602406

11. Adams MM, Elam-Evans LD, Wilson HG, Gilbertz DA. Rates of and factors associated with recurrence of preterm delivery. JAMA. 2000;283(12):1591–6. 10735396

12. Bhattacharya S, Raja EA, Mirazo ER, Campbell DM, Lee AJ, Norman JE, et al. Inherited predisposition to spontaneous preterm delivery. Obstet Gynecol. 2010;115(6):1125–33. doi: 10.1097/AOG.0b013e3181dffcdb 20502281

13. Wilcox AJ, Skjaerven R, Lie RT. Familial patterns of preterm delivery: maternal and fetal contributions. Am J Epidemiol. 2008;167(4):474–9. doi: 10.1093/aje/kwm319 18048376

14. Plunkett J, Feitosa MF, Trusgnich M, Wangler MF, Palomar L, Kistka ZA, et al. Mother's genome or maternally-inherited genes acting in the fetus influence gestational age in familial preterm birth. Hum Hered. 2009;68(3):209–19. PubMed Central PMCID: PMCPMC2869074. doi: 10.1159/000224641 19521103

15. Bezold KY, Karjalainen MK, Hallman M, Teramo K, Muglia LJ. The genomics of preterm birth: from animal models to human studies. Genome Med. 2013;5(4):34. PubMed Central PMCID: PMCPMC3707062. doi: 10.1186/gm438 23673148

16. Capece A, Vasieva O, Meher S, Alfirevic Z, Alfirevic A. Pathway analysis of genetic factors associated with spontaneous preterm birth and pre-labor preterm rupture of membranes. PLoS One. 2014;9(9):e108578. PubMed Central PMCID: PMCPMC4181300. doi: 10.1371/journal.pone.0108578 25264875

17. Falah N, McElroy J, Snegovskikh V, Lockwood CJ, Norwitz E, Murray JC, et al. Investigation of genetic risk factors for chronic adult diseases for association with preterm birth. Hum Genet. 2013;132(1):57–67. PubMed Central PMCID: PMCPMC3864772. doi: 10.1007/s00439-012-1223-x 22972380

18. Anum EA, Hill LD, Pandya A, Strauss JF 3rd. Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity. Placenta. 2009;30(3):207–15. PubMed Central PMCID: PMCPMC2673455. doi: 10.1016/j.placenta.2008.12.007 19152976

19. Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, Renkens I, et al. Genome-wide patterns and properties of de novo mutations in humans. Nat Genet. 2015;47(7):822–6. PubMed Central PMCID: PMCPMC4485564. doi: 10.1038/ng.3292 25985141

20. Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, et al. Parent-of-origin-specific signatures of de novo mutations. Nat Genet. 2016;48(8):935–9. doi: 10.1038/ng.3597 27322544

21. Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature. 2012;488(7412):471–5. PubMed Central PMCID: PMCPMC3548427. doi: 10.1038/nature11396 22914163

22. Zhu JL, Madsen KM, Vestergaard M, Basso O, Olsen J. Paternal age and preterm birth. Epidemiology. 2005;16(2):259–62. 15703543

23. Wong WS, Solomon BD, Bodian DL, Kothiyal P, Eley G, Huddleston KC, et al. New observations on maternal age effect on germline de novo mutations. Nat Commun. 2016;7:10486. PubMed Central PMCID: PMCPMC4735694. doi: 10.1038/ncomms10486 26781218

24. Weddington N, Stuy A, Hiratani I, Ryba T, Yokochi T, Gilbert DM. ReplicationDomain: a visualization tool and comparative database for genome-wide replication timing data. BMC Bioinformatics. 2008;9:530. PubMed Central PMCID: PMCPMC2636809. doi: 10.1186/1471-2105-9-530 19077204

25. Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310–5. PubMed Central PMCID: PMCPMC3992975. doi: 10.1038/ng.2892 24487276

26. Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanagh D, Samocha KE, et al. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nature Genetics. 2016;48(10):1107–11. doi: 10.1038/ng.3638 27533299

27. Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, et al. High-throughput discovery of novel developmental phenotypes. Nature. 2016;537(7621):508–14. doi: 10.1038/nature19356 27626380

28. Bult CJ, Eppig JT, Blake JA, Kadin JA, Richardson JE, Mouse Genome Database G. Mouse genome database 2016. Nucleic Acids Res. 2016;44(D1):D840–7. PubMed Central PMCID: PMCPMC4702860. doi: 10.1093/nar/gkv1211 26578600

29. Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, et al. Spatio-temporal transcriptome of the human brain. Nature. 2011;478(7370):483–9. PubMed Central PMCID: PMCPMC3566780. doi: 10.1038/nature10523 22031440

30. Parikshak NN, Luo R, Zhang A, Won H, Lowe JK, Chandran V, et al. Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell. 2013;155(5):1008–21. PubMed Central PMCID: PMCPMC3934107. doi: 10.1016/j.cell.2013.10.031 24267887

31. Hoffmann TJ, Shaw GM, Stevenson DK, Wang H, Quaintance CC, Oehlert J, et al. Copy number variation in bronchopulmonary dysplasia. Am J Med Genet A. 2014;164A(10):2672–5. PubMed Central PMCID: PMCPMC4167221. doi: 10.1002/ajmg.a.36659 24975634

32. MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW. The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res. 2014;42(Database issue):D986–92. PubMed Central PMCID: PMCPMC3965079. doi: 10.1093/nar/gkt958 24174537

33. Varner MW, Esplin MS. Current understanding of genetic factors in preterm birth. BJOG. 2005;112 Suppl 1:28–31.

34. Visscher PM, Brown MA, McCarthy MI, Yang J. Five years of GWAS discovery. Am J Hum Genet. 2012;90(1):7–24. PubMed Central PMCID: PMCPMC3257326. doi: 10.1016/j.ajhg.2011.11.029 22243964

35. Li J, Yu KH, Oehlert J, Jeliffe-Pawlowski LL, Gould JB, Stevenson DK, et al. Exome Sequencing of Neonatal Blood Spots and the Identification of Genes Implicated in Bronchopulmonary Dysplasia. Am J Respir Crit Care Med. 2015;192(5):589–96. PubMed Central PMCID: PMCPMC4595691. doi: 10.1164/rccm.201501-0168OC 26030808

36. Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet. 2012;13(8):565–75. doi: 10.1038/nrg3241 22805709

37. Goeden N, Velasquez J, Arnold KA, Chan Y, Lund BT, Anderson GM, et al. Maternal Inflammation Disrupts Fetal Neurodevelopment via Increased Placental Output of Serotonin to the Fetal Brain. J Neurosci. 2016;36(22):6041–9. PubMed Central PMCID: PMCPMC4887568. doi: 10.1523/JNEUROSCI.2534-15.2016 27251625

38. Stolp HB, Turnquist C, Dziegielewska KM, Saunders NR, Anthony DC, Molnar Z. Reduced ventricular proliferation in the foetal cortex following maternal inflammation in the mouse. Brain. 2011;134(Pt 11):3236–48. PubMed Central PMCID: PMCPMC3212715.

39. Patterson PH. Maternal infection: window on neuroimmune interactions in fetal brain development and mental illness. Curr Opin Neurobiol. 2002;12(1):115–8. 11861174

40. Choi GB, Yim YS, Wong H, Kim S, Kim H, Kim SV, et al. The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring. Science. 2016;351(6276):933–9. PubMed Central PMCID: PMCPMC4782964. doi: 10.1126/science.aad0314 26822608

41. Shaw GM, Savitz DA, Nelson V, Thorp JM Jr. Role of structural birth defects in preterm delivery. Paediatr Perinat Epidemiol. 2001;15(2):106–9. 11383574

42. Johnson S, Marlow N. Preterm birth and childhood psychiatric disorders. Pediatr Res. 2011;69(5 Pt 2):11R–8R.

43. Nosarti C, Reichenberg A, Murray RM, Cnattingius S, Lambe MP, Yin L, et al. Preterm birth and psychiatric disorders in young adult life. Arch Gen Psychiatry. 2012;69(6):E1–8. doi: 10.1001/archgenpsychiatry.2011.1374 22660967

44. Porter TF, Fraser AM, Hunter CY, Ward RH, Varner MW. The risk of preterm birth across generations. Obstet Gynecol. 1997;90(1):63–7. doi: 10.1016/S0029-7844(97)00215-9 9207815

45. Alio AP, Salihu HM, McIntosh C, August EM, Weldeselasse H, Sanchez E, et al. The effect of paternal age on fetal birth outcomes. Am J Mens Health. 2012;6(5):427–35. doi: 10.1177/1557988312440718 22564913

46. Tough SC, Faber AJ, Svenson LW, Johnston DW. Is paternal age associated with an increased risk of low birthweight, preterm delivery, and multiple birth? Can J Public Health. 2003;94(2):88–92. 12675162

47. Huguet G, Ey E, Bourgeron T. The genetic landscapes of autism spectrum disorders. Annu Rev Genomics Hum Genet. 2013;14:191–213. doi: 10.1146/annurev-genom-091212-153431 23875794

48. Zhang F, Lupski JR. Non-coding genetic variants in human disease. Hum Mol Genet. 2015;24(R1):R102–10. PubMed Central PMCID: PMCPMC4572001. doi: 10.1093/hmg/ddv259 26152199

49. Chang X, Wang K. wANNOVAR: annotating genetic variants for personal genomes via the web. J Med Genet. 2012;49(7):433–6. PubMed Central PMCID: PMCPMC3556337. doi: 10.1136/jmedgenet-2012-100918 22717648

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