Genetic and epigenetic susceptibility to early life infection

Current Opinion in Infectious Diseases

Volumn 26, Issue 3, 2013, Pages 241-247

  Strunk, Tobias ^a,b,c   Jamieson, Sarra E ^d   Burgner, David ^c,e,f  

^a King Edward Memorial and Princess Margaret Hospitals   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

epigenetic; genetic; neonatal infection

Indexed keywords

EPIGENETICS; GENETIC RISK; GENETIC SUSCEPTIBILITY; HUMAN; INFECTION RISK; NEWBORN; NEWBORN INFECTION; REVIEW; RISK FACTOR;

EPIGENOMICS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNITY, INNATE; INFANT, NEWBORN; INFECTION;

EID: 84876873859     PISSN: 09517375     EISSN: 14736527     Source Type: Journal    
DOI: 10.1097/QCO.0b013e32835fb8d9     Document Type: Review

References (68)

1. Liu L, Johnson HL, Cousens S, et al. Global, regional, and national causes of child mortality: an updated systematic analysis for 2010 with time trends since. Lancet 2012; 379:2151-2161.
2. Bassani DG, Kumar R, Awasthi S, et al. Causes of neonatal and child mortality in India: a nationally representative mortality survey. Lancet 2010; 376:1853- 1860.
3. Stoll BJ, Hansen NI, Sanchez PJ, et al. Early onset neonatal sepsis: the burden of group B streptococcal and E. coli disease continues. Pediatrics 2011; 127:817-826.
4. Isaacs D. A ten year, multicentre study of coagulase negative staphylococcal infections in Australasian neonatal units. Arch Dis Child Fetal Neonatal Ed 2003; 88:F89-F93.
5. Stoll BJ, Hansen NI, Bell EF, et al. Neonatal outcomes of extremely preterm infants from the NICHD Neonatal Research Network. Pediatrics 2010; 126:443-456.
6. Kiechl-Kohlendorfer U, Ralser E, Pupp Peglow U, et al. Adverse neurodevelopmental outcome in preterm infants: risk factor profiles for different gestational ages. Acta Paediatr 2009; 98:792-796.
7. Martin CR, Dammann O, Allred EN, et al. Neurodevelopment of extremely preterm infants who had necrotizing enterocolitis with or without late bacteremia. J Pediatr 2010; 157:751-756.e1.
8. Shah DK, Doyle LW, Anderson PJ, et al. Adverse neurodevelopment in preterm infants with postnatal sepsis or necrotizing enterocolitis is mediated by white matter abnormalities on magnetic resonance imaging at term. J Pediatr 2008; 153:170-175; 175.e1.
9. Stoll BJ, Hansen NI, Adams-Chapman I, et al. Neurodevelopmental and growth impairment among extremely low-birth-weight infants with neonatal infection. J Am Med Assoc 2004; 292:2357-2365.
10. Strunk T, Currie A, Richmond P, et al. Innate immunity in human newborn infants: prematurity means more than immaturity. J Matern Fetal Neonatal Med 2011; 24:25-31.
11. Fugger L, McVean G, Bell JI. Genomewide association studies and common disease-realizing clinical utility. N Engl J Med 2012; 367:2370-2371.
12. Hill AV. Evolution, revolution and heresy in the genetics of infectious disease susceptibility. Philos Trans R Soc Lond B Biol Sci 2012; 367:840-849.
13. Alcais A, Abel L, Casanova JL. Human genetics of infectious diseases: between proof of principle and paradigm. J Clin Invest 2009; 119:2506- 2514.
14. Blackwell JM, Jamieson SE, Burgner D. HLA and infectious diseases. Clin Microbiol Rev 2009; 22:370-385.
15. Lavoie PM, Pham C, Jang KL. Heritability of bronchopulmonary dysplasia, defined according to the consensus statement of the National Institutes of Health. Pediatrics 2008; 122:479-485.
16. Bizzarro MJ, Jiang Y, Hussain N, et al. The impact of environmental and genetic factors on neonatal late-onset sepsis. J Pediatr 2011; 158:234-238.e1.
17. Burgner D, Jamieson SE, Blackwell JM. Genetic susceptibility to infectious diseases: big is beautiful, but will bigger be even better? Lancet Infect Dis 2006; 6:653-663.
18. Davila S, Wright VJ, Khor CC, et al. Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. Nat Genet 2010; 42:772-776.
19. Thye T, Owusu-Dabo E, Vannberg FO, et al. Common variants at 11p13 are associated with susceptibility to tuberculosis. Nat Genet 2012; 44:257-259.
20. Burgner D, Davila S, Breunis WB, et al. A genome-wide association study identifies novel and functionally related susceptibility loci for Kawasaki disease. PLoS Genet 2009; 5:e1000319.
21. Onouchi Y, Ozaki K, Burns JC, et al. A genome-wide association study identifies three new risk loci for Kawasaki disease. Nat Genet 2012; 44:517-521.
22. Khor CC, Davila S, Breunis WB, et al. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. Nat Genet 2011; 43:1241-1246.
23. Lee YC, Kuo HC, Chang JS, et al. Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. Nat Genet 2012; 44:522-525.
24. Jallow M, Teo YY, Small KS, et al. Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet 2009; 41:657-665.
25. Timmann C, Thye T, Vens M, et al. Genome-wide association study indicates two novel resistance loci for severe malaria. Nature 2012; 489:443-446.
26. Khor CC, Chau TN, Pang J, et al. Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1. Nat Genet 2011; 43:1139-1141.
27. Pereyra F, Jia X, McLaren PJ, et al. The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science 2010; 330:1551- 1557.
28. Kamatani Y, Wattanapokayakit S, Ochi H, et al. A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians. Nat Genet 2009; 41:591-595.
29. Tanaka Y, Nishida N, Sugiyama M, et al. Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C. Nat Genet 2009; 41:1105-1109.
30. Newport MJ, Finan C. Genome-wide association studies and susceptibility to infectious diseases. Brief Funct Genomics 2011; 10:98-107.
31. Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491:56-65.
32. Varner MW, Esplin MS. Current understanding of genetic factors in preterm birth. BJOG 2005; 112 (Suppl 1):28-31.
33. Levy O. Innate immunity of the newborn: basic mechanisms and clinical correlates. Nat Rev Immunol 2007; 7:379-390.
34. Bouwman LH, Roep BO, Roos A. Mannose-binding lectin: clinical implications for infection, transplantation, and autoimmunity. Hum Immunol 2006; 67:247-256.
35. Frakking FN, Brouwer N, van Eijkelenburg NK, et al. Low mannose-binding lectin (MBL) levels in neonates with pneumonia and sepsis. Clin Exp Immunol 2007; 150:255-262.
36. Dzwonek AB, Neth OW, Thiebaut R, et al. The role of mannose-binding lectin in susceptibility to infection in preterm neonates. Pediatr Res 2008; 63:680- 685.
37. Koroglu OA, Onay H, Erdemir G, et al. Mannose-binding lectin gene polymorphism and early neonatal outcome in preterm infants. Neonatology 2010; 98:305-312.
38. Ozkan H, Koksal N, Cetinkaya M, et al. Serum mannose-binding lectin (MBL) gene polymorphism and low MBL levels are associated with neonatal sepsis and pneumonia. J Perinatol 2012; 32:210-217.
39. Hilgendorff A, Heidinger K, Pfeiffer A, et al. Association of polymorphisms in the mannose-binding lectin gene and pulmonary morbidity in preterm infants. Genes Immun 2007; 8:671-677.
40. van der Zwet WC, Catsburg A, van Elburg RM, et al. Mannose-binding lectin (MBL) genotype in relation to risk of nosocomial infection in preterm neonates in the neonatal intensive care unit. Clin Microbiol Infect 2008; 14:130-135.
41. Aydemir C, Onay H, Oguz SS, et al. Mannose-binding lectin codon 54 gene polymorphism in relation to risk of nosocomial invasive fungal infection in preterm neonates in the neonatal intensive care unit. J Matern Fetal Neonatal Med 2011; 24:1124-1127.
42. Israels J, Frakking FN, Kremer LC, et al. Mannose-binding lectin and infection risk in newborns: a systematic review. Arch Dis Child Fetal Neonatal Ed 2010; 95:F452-F461.
43. St Swierzko A, Cedzynski M, Domzalska-Popadiuk I, et al. Mannan-binding lectin-associated serine protease-2 (MASP-2) in a large cohort of neonates and its clinical associations. Mol Immunol 2009; 46:1696-1701.
44. Hartel C, Finas D, Ahrens P, et al. Polymorphisms of genes involved in innate immunity: association with preterm delivery. Mol Hum Reprod 2004; 10:911- 915.
45. Kilpinen S, Hulkkonen J, Wang XY, et al. The promoter polymorphism of the interleukin-6 gene regulates interleukin-6 production in neonates but not in adults. Eur Cytokine Netw 2001; 12:62-68.
46. LeVan TD, Bloom JW, Bailey TJ, et al. A common single nucleotide polymorphism in the CD14 promoter decreases the affinity of Sp protein binding and enhances transcriptional activity. J Immunol 2001; 167:5838-5844.
47. Schaaf BM, Boehmke F, Esnaashari H, et al. Pneumococcal septic shock is associated with the interleukin-10-1082 gene promoter polymorphism. Am J Respir Crit Care Med 2003; 168:476-480.
48. Strunk T, Burgner D. Genetic susceptibility to neonatal infection. Curr Opin Infect Dis 2006; 19:259-263.
49. Baier RJ, Loggins J, Yanamandra K. IL-10, IL-6 and CD14 polymorphisms and sepsis outcome in ventilated very low birth weight infants. BMC Med 2006; 4:10.
50. Hartel C, Hemmelmann C, Faust K, et al. Tumor necrosis factor-alpha promoter -308 G/A polymorphism and susceptibility to sepsis in very-lowbirth- weight infants. Crit Care Med 2011; 39:1190-1195.
51. Chauhan M, McGuire W. Interleukin-6 (-174C) polymorphism and the risk of sepsis in very low birth weight infants: meta-analysis. Arch Dis Child Fetal Neonatal Ed 2008; 93:F427-F429.
52. Abu-Maziad A, Schaa K, Bell EF, et al. Role of polymorphic variants as genetic modulators of infection in neonatal sepsis. Pediatr Res 2010; 68:323- 329.
53. Sikora M, Laayouni H, Menendez C, et al. A targeted association study of immunity genes and networks suggests novel associations with placental malaria infection. PLoS One 2011; 6:e24996.
54. Gluckman PD, Hanson MA, Cooper C, et al. Effect of in utero and early-life conditions on adult health and disease. N Engl J Med 2008; 359:61-73.
55. Lee H, Jaffe AE, Feinberg JI, et al. DNA methylation shows genome-wide association of NFIX, RAPGEF2 and MSRB3 with gestational age at birth. Int J Epidemiol 2012; 41:188-199.
56. Martino DJ, Tulic MK, Gordon L, et al. Evidence for age-related and individualspecific changes in DNA methylation profile of mononuclear cells during early immune development in humans. Epigenetics 2012; 6:1085-1094.
57. Cetin I, Pileri P, Villa A, et al. Pathogenic mechanisms linking periodontal diseases with adverse pregnancy outcomes. Reprod Sci 2012; 19:633- 641.
58. Abati S, Villa A, Cetin I, et al. Lack of association between maternal periodontal status and adverse pregnancy outcomes: a multicentric epidemiologic study. J Matern Fetal Neonatal Med 2013; 26:369-372.
59. Bobetsis YA, Barros SP, Lin DM, et al. Bacterial infection promotes DNA hypermethylation. J Dent Res 2007; 86:169-174.
60. Arbibe L. Immune subversion by chromatin manipulation: a 'new face' of hostbacterial pathogen interaction. Cell Microbiol 2008; 10:1582-1590.
61. Arbibe L, Kim DW, Batsche E, et al. An injected bacterial effector targets chromatin access for transcription factor NF-kappaB to alter transcription of host genes involved in immune responses. Nat Immunol 2007; 8:47-56.
62. Hamon MA, Batsche E, Regnault B, et al. Histone modifications induced by a family of bacterial toxins. Proc Natl Acad Sci U S A 2007; 104:13467- 13472.
63. Lang C Hildebrandt A, Brand F, et al. Impaired chromatin remodelling at STAT1-regulated promoters leads to global unresponsiveness of Toxoplasma gondii-infected macrophages to IFN-gamma. PLoS Pathog 2012; 8:e1002483.
64. Jacoby M, Gohrbandt S, Clausse V, et al. Interindividual variability and co-regulation of DNA methylation differ among blood cell populations. Epigenetics 2012; 7:1421-1434.
65. Paschos K, Allday MJ. Epigenetic reprogramming of host genes in viral and microbial pathogenesis. Trends Microbiol 2010; 18:439-447.
66. Saffery R, Morley R, Carlin JB, et al. Cohort profile: the peri/postnatal epigenetic twins study. Int J Epidemiol 2012; 41:55-61.
67. Beyan H, Down TA, Ramagopalan SV, et al. Guthrie card methylomics identifies temporally stable epialleles that are present at birth in humans. Genome Res 2012; 22:2138-2145.
68. Cruickshank MN, Pitt J, Craig JM. Going back to the future with Guthriepowered epigenome-wide association studies. Genome Med 2012; 4:83.