NOD2 Loss-of-Function Mutations and Risks of Necrotizing Enterocolitis or Focal Intestinal Perforation in Very Low-birth-weight Infants

Inflammatory Bowel Diseases

Volumn 22, Issue 2, 2016, Pages 249-256

  Härtel, Christoph ^a   Hartz, Annika ^a   Pagel, Julia ^a,b   Rupp, Jan ^b   Stein, Anja ^c   Kribs, Angela ^d   Müller, Andreas ^e   Haase, Roland ^f   Gille, Christian ^g   Böttger, Ralf ^h   Kittel, Jochen ⁱ   Jensen, Reinhard ^j   Wieg, Christian ^k   Herting, Egbert ^a   Göpel, Wolfgang ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^e UNIVERSITY HOSPITAL BONN   (Germany)

^f MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

^g UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^h University Children's Hospital   (Germany)

ⁱ Children's Hospital St Hedwig Regensburg   (Germany)

^j Children's Hospital St Hedwig   (Germany)

^k KLINIKUM ASCHAFFENBURG   (Germany)

more..

Author keywords

focal intestinal perforation (FIP); Leu1007fsinsC (rs5743293); necrotizing enterocolitis; NOD2 G908R polymorphism rs2066845 ; NOD2 R702W rs2066844 polymorphism

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; PROBIOTIC AGENT; NOD2 PROTEIN, HUMAN;

ABDOMINAL DRAINAGE; ALLELE; ARTICLE; BIFIDOBACTERIUM INFANTIS; BIRTH WEIGHT; COHORT ANALYSIS; COMORBIDITY; COMPARATIVE STUDY; CONTROLLED STUDY; DIET SUPPLEMENTATION; ENTERIC FEEDING; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GESTATIONAL AGE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; INTESTINE PERFORATION; LACTOBACILLUS ACIDOPHILUS; LAPAROTOMY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MORBIDITY; NECROTIZING ENTEROCOLITIS; PREVALENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; RISK FACTOR; SEX DIFFERENCE; VERY LOW BIRTH WEIGHT; ADULT; ENTEROCOLITIS, NECROTIZING; FOLLOW UP; GENETICS; GERMANY; INTESTINAL PERFORATION; MUTATION; PROGNOSIS;

ADULT; ENTEROCOLITIS, NECROTIZING; FOLLOW-UP STUDIES; GERMANY; HUMANS; INFANT; INFANT, VERY LOW BIRTH WEIGHT; INTESTINAL PERFORATION; MUTATION; NOD2 SIGNALING ADAPTOR PROTEIN; PROBIOTICS; PROGNOSIS; PROSPECTIVE STUDIES;

EID: 84955586737     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1097/MIB.0000000000000658     Document Type: Article

References (40)

1. Meinzen-Derr J, Morrow AL, Hornung RW, et al. Epidemiology of necrotizing enterocolitis temporal clustering in two neonatology practices. JPediatr. 2009;154:656-661.
2. Torrazza RM, Li N, Neu J. Decoding the enigma of necrotizing enterocolitis in premature infants. Pathophysiology. 2014;21:21-27.
3. Sharma R, Hudak ML. A clinical perspective of necrotizing enterocolitis: past, present, and future. Clin Perinatol. 2013;40:27-51.
4. Yee WH, Soraisham AS, Shah VS, et al; Canadian Neonatal Network. Incidence and timing of presentation of necrotizing enterocolitis in preterm infants. Pediatrics. 2012;129:e298-304.
5. Bhandari V, Bizzarro MJ, Shetty A, et al. Familial and genetic susceptibility to major neonatal morbidities in preterm twins. Pediatrics. 2006; 117:1901-1906.
6. Härtel C, Schultz C, Herting E, et al. Genetic association studies in VLBW infants exemplifying susceptibility to sepsis-recent findings and implications for future research. Acta Paediatr. 2007;96:158-165.
7. Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 2001; 411:603-606.
8. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001; 411:599-603.
9. MacArthur DG, Balasubramanian S, Frankish A, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012;335:823-828.
10. Li J, Moran T, Swanson E, et al. Regulation of IL-8 and IL-1-beta expression in Crohn's disease associated NOD2/CARD15 mutations. Hum Mol Genet. 2004;13:1715-1725.
11. van Heel DA, Ghosh S, Butler M, et al. Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease. Lancet. 2005; 365:1794-1796.
12. Morowitz MJ, Poroyko V, Caplan M, et al. Redefining the role of intestinal microbes in the pathogenesis of necrotizing enterocolitis. Pediatrics. 2010;125:777-785.
13. Cotten SM, Taylor S, Stoll B, et al, Prolonged duration of initial empirical antibiotic treatment is associated with increased rates of necrotizing enterocolitis and death for extremely low birth weight infants. Pediatrics. 2009;123:58-66.
14. Bell MJ. Neonatal necrotizing enterocolitis. N Engl J Med. 1978;298: 281-282.
15. Geffers C, Baerwolff S, Schwab F, et al. Incidence of healthcare-associated infections in high-risk neonates: results from the German surveillance system for very-low-birthweight infants. JHosp Infect. 2008;68: 214-221.
16. Papile LA, Burstein J, Burstein R, et al. Incidence and evolution of subependymal and intraventricular hemorrhage: a study of infants with birth weights less than 1, 500 gm. J Pediatr. 1978;92:529-534.
17. Garner A. The pathogenesis of ocular vascular disorders. Aust J Ophthalmol. 1984;12:401-404.
18. Lesage S, Zouali H, Cezard JP, et al; EPWG-IBD Group; EPIMAD Group. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet. 2002;70:845-857.
19. Croucher PJP, Mascheretti S, Hampe J, et al. Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations. Europ J Hum Genet. 2003;11:6-16.
20. Giachino D, van Duist MM, Regazzoni S, et al. Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients. Europ J Hum Genet. 2004;12:206-212.
21. Edelson MB, Bagwell CE, Rozycki HJ. Circulating pro-and counterin-flammatory cytokine levels and severity in necrotizing enterocolitis. Pediatrics. 1999;103:766-771.
22. Nanthakumar NN, Fusunyan RD, Sanderson I, et al. Inflammation in the developing human intestine: a possible pathophysiologic contribution to necrotizing enterocolitis. Proc Natl Acad Sci USA. 2000;97: 6043-6048.
23. Kandasamy J, Huda S, Ambalavanan N, et al. Inflammatory signals that regulate intestinal epithelial renewal, differentiation, migration and cell death: implications for necrotizing enterocolitis. Pathophysiology. 2014; 21:67-80.
24. Nanthakumar N, Meng D, Goldstein AM, et al. The mechanism of excessive intestinal inflammation in necrotizing enterocolitis: an immature innate immune response. PLoS One. 2011;6:e17776.
25. Le Mandat Schultz A, Bonnard A, Barreau F, et al. Expression of TLR-2, TLR-4, NOD2 and pNF-kappaB in a neonatal rat model of necrotizing enterocolitis. PLoS One. 2007;2:e1102.
26. Liu Y, Zhu L, Fatheree NY, et al. Changes in intestinal toll-like receptors and cytokines precede histological injury in a rat model of necrotizing enterocolitis. Am J Physiol Gastrointest Liver Physiol. 2009;297: G442-G450.
27. Ewer AK, Al-Salti W, Coney AM, et al. The role of platelet activating factor in a neonatal piglet model of necrotising enterocolitis. Gut. 2004; 53:207-213.
28. Berrington JE, Stewart CJ, Cummings SP, et al. The neonatal bowel microbiome in health and infection. Curr Opin Infect Dis. 2014;27: 236-243.
29. Sampath V, Le M, Lane L, et al. The NFKB1 (g.-24519delATTG) variant is associated with necrotizing enterocolitis (NEC) in premature infants. J Surg Res. 2011;169:e51-e57.
30. Prencipe G, Azzari C, Moriondo M, et al. Association between mannose-binding lectin gene polymorphisms and necrotizing enterocolitis in pre-term infants. J Pediatr Gastroenterol Nutr. 2012;55:160-165.
31. Morrow AL, Meinzen-Derr J, Huang P, et al. Fucosyltransferase 2 non-secretor and low secretor status predicts severe outcomes in premature infants. J Pediatr. 2011;158:745-751.
32. Henderson G, Craig S, Baier RJ, et al. Cytokine gene polymorphisms in preterm infants with necrotising enterocolitis: genetic association study. Arch Dis Child Fetal Neonatal Ed. 2009;94:F124-F128.
33. Treszl A, Tulassay T, Vasarhelyi B. Genetic basis for necrotizing entero-colitis-risk factors and their relations to genetic polymorphisms. Front Biosci. 2006;11:570-580.
34. Zouali H, Bonnard A, De Lagausie DL, et al. CARD15/NOD2 is not a predisposing factor for necrotizing enterocolitis. Dig Dis Sci. 2005;50: 1684-1687.
35. Szebeni B, Szekeres R, Rusai K, et al. Genetic polymorphisms of CD14, toll-like receptor 4, and caspase-recruitment domain 15 are not associated with necrotizing enterocolitis in very low birth weight infants. J Pediatr Gastroenterol Nutr. 2006;42:27-31.
36. Penack O, Holler E, van den Brink MR. Graft-versus-host disease: regulation by microbe-associated molecules and innate immune receptors. Blood. 2010;115:1865-1872.
37. Elahi S, Ertelt JM, Kinder JM, et al. Immunosuppressive CD71+ erythroid cells compromise neonatal host defence against infection. Nature. 2013; 504:158-162.
38. Härtel C, Pagel J, Rupp J, et al. Prophylactic use of Lactobacillus acid-ophilus/Bifidobacterium infantis probiotics and outcome in very low birth weight infants. J Pediatr. 2014;165:285-289.e1.
39. Granland C, Strunk T, Hibbert J, et al, Currie AJ.NOD1 and NOD2 expression and function in very preterm infant mononuclear cells. Acta Paediatr. 2014;103:e212-e218.
40. Geddes K, Magalhaes JG, Girardin SE. Unleashing the therapeutic potential of NOD-like receptors. Nat Rev. 2009;8:465-479.