The genomic basis of cerebral palsy: A HuGE systematic literature review

Human Genetics

Volumn 126, Issue 1, 2009, Pages 149-172

  O'Callaghan, Michael E ^a   MacLennan, A H ^a   Haan, E A ^a   Dekker, G ^a  

^a UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); APOLIPOPROTEIN E; BLOOD CLOTTING FACTOR 5 LEIDEN; CYCLOOXYGENASE 2; CYTOKINE; ENDOTHELIAL NITRIC OXIDE SYNTHASE; INTERLEUKIN 10; INTERLEUKIN 1BETA; INTERLEUKIN 6; INTERLEUKIN 8; LYMPHOTOXIN; MANNOSE BINDING LECTIN; PROTHROMBIN; TOLL LIKE RECEPTOR 4; TUMOR NECROSIS FACTOR ALPHA;

CARDIOVASCULAR FUNCTION; CASE CONTROL STUDY; CEREBRAL PALSY; EMBASE; ETHNICITY; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; IMMUNE RESPONSE; MEDLINE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; PUBLICATION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW; THROMBOPHILIA;

APOLIPOPROTEINS E; CASE-CONTROL STUDIES; CEREBRAL PALSY; COHORT STUDIES; DATABASES, FACTUAL; FACTOR V; FORECASTING; GUIDELINES AS TOPIC; HUMANS; LYMPHOTOXIN-ALPHA; MANNOSE-BINDING LECTIN; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); NITRIC OXIDE SYNTHASE TYPE III; POLYMORPHISM, SINGLE NUCLEOTIDE; TUMOR NECROSIS FACTOR-ALPHA;

EID: 67651121993     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0638-5     Document Type: Review

References (82)

1. Arbour NC, Lorenz E, Schutte BC, Zabner J, Kline JN, Jones M, Frees K, Watt JL, Schwartz DA (2000) TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet 25(2):187-191
2. Ates O, Musellim B, Ongen G, Topal-Sarikaya A (2008) Interleukin-10 and tumor necrosis factor-alpha gene polymorphisms in tuberculosis. J Clin Immunol 28(3):232-236
3. Atochin DN, Demchenko IT, Astern J, Boso AE, Piantadosi CA, Huang PL (2003) Contributions of endothelial and neuronal nitric oxide synthases to cerebrovascular responses to hyperoxia. J Cereb Blood Flow Metab 23(10):1219-1226
4. Bashiri A, Burstein E, Mazor M (2006) Cerebral palsy and fetal inflammatory response syndrome: A review. J Perinat Med 34(1):5-12
5. Braun JS, Hoffmann O, Schickhaus M, Freyer D, Dagand E, Bermpohl D, Mitchell TJ, Bechmann I, Weber JR (2007) Pneumolysin causes neuronal cell death through mitochondrial damage. Infect Immun 75(9):4245-4254
6. Chauhan M, McGuire W (2008) Interleukin-6 (-174C) polymorphism and the risk of sepsis in very-low-birth-weight infants: Meta-analysis. Arch Dis Child Fetal Neonatal Ed
7. Christen WG, Ajani UA, Glynn RJ, Hennekens CH (2000) Blood levels of homocysteine and increased risks of cardiovascular disease: Causal or casual? Arch Intern Med 160(4):422-434
8. Chudakova DA, Minushkina LO, Zateishchikov DA, Nosik VV (2004) Association of polymorphic marker G(-455)A of gene FGB with coronary artery disease. Genetika 40(10):1406-1409
9. Cipollone F, Toniato E, Martinotti S, Fazia M, Iezzi A, Cuccurullo C, Pini B, Ursi S, Vitullo G, Averna M et al (2004) A polymorphism in the cyclooxygenase 2 gene as an inherited protective factor against myocardial infarction and stroke. JAMA 291(18):2221-2228
10. Curry CJ, Bhullar S, Holmes J, Delozier CD, Roeder ER, Hutchison HT (2007) Risk factors for perinatal arterial stroke: A study of 60 mother-child pairs. Pediatr Neurol 37(2):99-107
11. Dawson SJ, Wiman B, Hamsten A, Green F, Humphries S, Henney AM (1993) The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells. J Biol Chem 268(15):10739-10745
12. Dekker G, de Vries J, Doelitzsch P, Huijgens P, von Blomberg B, Jakobs C, van Geijn H (1995) Underlying disorders associated with severe early-onset preeclampsia. Am J Obstet Gynecol 173:1042-1048
13. Dickinson J (1994) Viral teratology. In: Gonik B (ed) Viral diseases in pregnancy. Springer, Heidelberg
14. Dordelmann M, Kerk J, Dressler F, Brinkhaus MJ, Bartels DB, Dammann CE, Dork T, Dammann O (2006) Interleukin-10 high producer allele and ultrasound-defined periventricular white matter abnormalities in preterm infants: A preliminary study. Neuropediatrics 37(3):130-136
15. Fattal-Valevski A, Kenet G, Kupferminc MJ, Mesterman R, Leitner Y, Rimon E, Harel S, Hassner A (2005) Role of thrombophilic risk factors in children with non-stroke cerebral palsy. Thromb Res 116(2):133-137
16. Gibson CS, MacLennan AH, Hague WM, Haan EA, Priest K, Chan A, Dekker GA (2005a) Associations between inherited thrombophilia, gestational age, and cerebral palsy. Am J Obstet Gynecol 193(4):1437
17. Gibson CS, MacLennan AH, Hague WM, Haan EA, Priest K, Chan A, Dekker GA (2005b) Associations between inherited thrombophilias, gestational age, and cerebral palsy. Am J Obstet Gynecol 193(4)
18. Gibson CS, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA (2006a) The association between inherited cytokine polymorphisms and cerebral palsy. Am J Obstet Gynecol 194(3):674 e1-674 e11
19. Gibson CS, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA (2006b) The association between inherited cytokine polymorphisms and cerebral palsy. Am J Obstet Gynecol 194(3)
20. Gibson CS, Maclennan AH, Dekker GA, Goldwater PN, Sullivan TR, Munroe DJ, Tsang S, Stewart C, Nelson KB (2008a) Candidate genes and cerebral palsy: A population-based study. Pediatrics 122(5):1079-1085
21. Gibson CS, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA (2008b) Mannose-binding lectin haplotypes may be associated with cerebral palsy only after perinatal viral exposure. Am J Obstet Gynecol 198(5):509 e1-509 e8
22. Gotsch F, Romero R, Kusanovic JP, Mazaki-Tovi S, Pineles BL, Erez O, Espinoza J, Hassan SS (2007) The fetal inflammatory response syndrome. Clin Obstet Gynecol 50(3):652-683
23. Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS, Matthews RG, Rozen R (1994) Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification. Nat Genet 7(2):195-200
24. Grether JK, Nelson KB (1997) Maternal infection and cerebral palsy in infants of normal birth weight. JAMA 278(3):207-211
25. Halliday JL, Reddihough D, Byron K, Ekert H, Ditchfield M (2000) Hemiplegic cerebral palsy and the factor V Leiden mutation. J Med Genet 37(10):787-789
26. Harding DR, Dhamrait S, Whitelaw A, Humphries SE, Marlow N, Montgomery HE (2004) Does interleukin-6 genotype influence cerebral injury or developmental progress after preterm birth? Pediatrics 114(4):941-947
27. Harding DR, Humphries SE, Whitelaw A, Marlow N, Montgomery HE (2007) Cognitive outcome and cyclo-oxygenase-2 gene (-765 G/C) variation in the preterm infant. Arch Dis Child Fetal Neonatal Ed 92(2):F108-F112
28. Harum KH, Hoon AH Jr, Kato GJ, Casella JF, Breiter SN, Johnston MV (1999) Homozygous factor-V mutation as a genetic cause of perinatal thrombosis and cerebral palsy. Dev Med Child Neurol 41(11):777-780
29. Heinzmann A, Ahlert I, Kurz T, Berner R, Deichmann KA (2004) Association study suggests opposite effects of polymorphisms within IL8 on bronchial asthma and respiratory syncytial virus bronchiolitis. J Allergy Clin Immunol 114(3):671-676
30. Hemminki K, Li X, Sundquist K, Sundquist J (2007) High familial risks for cerebral palsy implicate partial heritable aetiology. Paediatr Perinat Epidemiol 21(3):235-241
31. Henry M, Chomiki N, Scarabin PY, Alessi MC, Peiretti F, Arveiler D, Ferrieres J, Evans A, Amouyel P, Poirier O et al (1997) Five frequent polymorphisms of the PAI-1 gene: Lack of association between genotypes, PAI activity, and triglyceride levels in a healthy population. Arterioscler Thromb Vasc Biol 17(5):851-858
32. Hoffman M, Cooper ST (1995) Thrombin enhances monocyte secretion of tumor necrosis factor and interleukin-1 beta by two distinct mechanisms. Blood Cells Mol Dis 21(2):156-167
33. Holm PI, Hustad S, Ueland PM, Vollset SE, Grotmol T, Schneede J (2007) Modulation of the homocysteine-betaine relationship by methylenetetrahydrofolate reductase 677 C->t genotypes and B-vitamin status in a large-scale epidemiological study. J Clin Endocrinol Metab 92(4):1535-1541
34. Hunault M, Arbini AA, Lopaciuk S, Carew JA, Bauer KA (1997) The Arg353Gln polymorphism reduces the level of coagulation factor VII. In vivo and in vitro studies. Arterioscler Thromb Vasc Biol 17(11):2825-2829
35. Jacobsson B, Hagberg G, Hagberg B, Ladfors L, Niklasson A, Hagberg H (2002) Cerebral palsy in preterm infants: A population-based case-control study of antenatal and intrapartal risk factors. Acta Paediatr 91(8):946-951
36. Jacobsson B, Ahlin K, Francis A, Hagberg G, Hagberg H, Gardosi J (2008) Cerebral palsy and restricted growth status at birth: Population-based case-control study. BJOG 115(10):1250-1255
37. Kalafatis M, Bertina RM, Rand MD, Mann KG (1995) Characterization of the molecular defect in factor VR506Q. J Biol Chem 270(8):4053-4057
38. Kilpinen S, Hulkkonen J, Wang XY, Hurme M (2001) The promoter polymorphism of the interleukin-6 gene regulates interleukin-6 production in neonates but not in adults. Eur Cytokine Netw 12(1):62-68
39. Kist WJ, Janssen NG, Kalk JJ, Hague WM, Dekker GA, de Vries JI (2008) Thrombophilias and adverse pregnancy outcome - a confounded problem. Thromb Haemost 99(1):77-85
40. Kroeger KM, Carville KS, Abraham LJ (1997) The -308 tumor necrosis factor-alpha promoter polymorphism effects transcription. Mol Immunol 34(5):391-399
41. Kuroda MM, Weck ME, Sarwark JF, Hamidullah A, Wainwright MS (2007) Association of apolipoprotein E genotype and cerebral palsy in children. Pediatrics 119(2):306-313
42. Lazarus M, Hajeer AH, Turner D, Sinnott P, Worthington J, Ollier WE, Hutchinson IV (1997) Genetic variation in the interleukin 10 gene promoter and systemic lupus erythematosus. J Rheumatol 24(12):2314-2317
43. Lynch JK, Nelson KB, Curry CJ, Grether JK (2001) Cerebrovascular disorders in children with the factor V Leiden mutation. J Child Neurol 16(10):735-744
44. McCarron MO, Delong D, Alberts MJ (1999) APOE genotype as a risk factor for ischemic cerebrovascular disease: A meta-analysis. Neurology 53(6):1308-1311
45. McGuire W, Hill AV, Allsopp CE, Greenwood BM, Kwiatkowski D (1994) Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria. Nature 371(6497):508-510
46. McMichael GL, Gibson CS, Goldwater PN, Haan EA, Priest K, Dekker GA, MacLennan AH (2008) Association between apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population. Hum Genet 124(4):411-416
47. Medina P, Navarro S, Estelles A, Vaya A, Woodhams B, Mira Y, Villa P, Migaud-Fressart M, Ferrando F, Aznar J et al (2004) Contribution of polymorphisms in the endothelial protein C receptor gene to soluble endothelial protein C receptor and circulating activated protein C levels, and thrombotic risk. Thromb Haemost 91(5):905-911
48. Meirelles Kalil Pessoa de B, Rodrigues CJ, de Barros TE, Bevilacqua RG (2000) Presence of apolipoprotein E epsilon 4 allele in cerebral palsy. J Pediatr Orthop 20(6):786-789
49. Moore KW, O'Garra A, Malefyt R, Vieira P, Mosmann TR (1993) Interleukin-10. Annu Rev Immunol 11:165-190
50. Nelson KB (2002) The epidemiology of cerebral palsy in term infants. Ment Retard Dev Disabil Res Rev 8(3):146-150
51. Nelson KB (2007) Perinatal ischemic stroke. Stroke 38(2 Suppl):742-745
52. Nelson KB, Grether JK (1999) Causes of cerebral palsy. Curr Opin Pediatr 11(6):487-491
53. Nelson KB, Lynch JK (2004) Stroke in newborn infants. Lancet Neurol 3(3):150-158
54. Nelson KB, Dambrosia JM, Iovannisci DM, Cheng S, Grether JK, Lammer E (2005) Genetic polymorphisms and cerebral palsy in very preterm infants. Pediatr Res 57(4):494-499
55. Ozaki K, Ohnishi Y, Iida A, Sekine A, Yamada R, Tsunoda T, Sato H, Hori M, Nakamura Y, Tanaka T (2002) Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet 32(4):650-654
56. Papafili A, Hill MR, Brull DJ, McAnulty RJ, Marshall RP, Humphries SE, Laurent GJ (2002) Common promoter variant in cyclooxygenase-2 represses gene expression: Evidence of role in acute-phase inflammatory response. Arterioscler Thromb Vasc Biol 22(10):1631-1636
57. Pociot F, Molvig J, Wogensen L, Worsaae H, Nerup J (1992) A TaqI polymorphism in the human interleukin-1 beta (IL-1 beta) gene correlates with IL-1 beta secretion in vitro. Eur J Clin Invest 22(6):396-402
58. Quek SC, Low PS, Saha N, Heng CK (2006) The effects of three factor VII polymorphisms on factor VII coagulant levels in healthy Singaporean Chinese, Malay and Indian newborns. Ann Hum Genet 70(Pt 6):951-957
59. Reid S, Halliday J, Ditchfield M, Ekert H, Byron K, Glynn A, Petrou V, Reddihough D (2006) Factor V Leiden mutation: A contributory factor for cerebral palsy? Dev Med Child Neurol 48(1):14-19
60. Robertson L, Wu O, Langhorne P, Twaddle S, Clark P, Lowe GD, Walker ID, Greaves M, Brenkel I, Regan L et al (2006) Thrombophilia in pregnancy: A systematic review. Br J Haematol 132(2):171-196
61. Rodgers GM, Kane WH (1986) Activation of endogenous factor V by a homocysteine-induced vascular endothelial cell activator. J Clin Invest 77(6):1909-1916
62. Rosenbaum P, Paneth N, Leviton A, Goldstein M, Bax M, Damiano D, Dan B, Jacobsson B (2007) A report: The definition and classification of cerebral palsy April 2006. Dev Med Child Neurol Suppl 109:8-14
63. Sabroe I, Dower SK, Whyte MK (2005) The role of Toll-like receptors in the regulation of neutrophil migration, activation, and apoptosis. Clin Infect Dis 41(Suppl 7):S421-S426
64. Saunders AM, Strittmatter WJ, Schmechel D, George-Hyslop PH, Pericak-Vance MA, Joo SH, Rosi BL, Gusella JF, Crapper-MacLachlan DR, Alberts MJ et al (1993) Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology 43(8):1467-1472
65. Scantlebury MH, David M, Carmant L (2002) Association between factor V Leiden mutation and the hemiconvulsion, hemiplegia, and epilepsy syndrome: Report of two cases. J Child Neurol 17(9):713-717
66. Senbil N, Yuksel D, Yilmaz D, Gurer YKY (2007) Prothrombotic risk factors in children with hemiplegic cerebral palsy. Pediatr Int 49(5):600-602
67. Smith RA, Skelton M, Howard M, Levene M (2001) Is thrombophilia a factor in the development of hemiplegic cerebral palsy? Dev Med Child Neurol 43(11):724-730
68. Srinivasan SR, Ehnholm C, Elkasabany A, Berenson G (1999) Influence of apolipoprotein E polymorphism on serum lipids and lipoprotein changes from childhood to adulthood: The Bogalusa heart study. Atherosclerosis 143(2):435-443
69. Steiner M, Hodes MZ, Shreve M, Sundberg S, Edson JR (2000) Postoperative stroke in a child with cerebral palsy heterozygous for factor V Leiden. J Pediatr Hematol Oncol 22(3):262-264
70. Takahashi M, Mori S, Shigeta S, Fujita T (2007) Role of MBL-associated serine protease (MASP) on activation of the lectin complement pathway. Adv Exp Med Biol 598:93-104
71. Thompson SG, Kienast J, Pyke SD, Haverkate F, van de Loo JC (1995) Hemostatic factors and the risk of myocardial infarction or sudden death in patients with angina pectoris. European concerted action on thrombosis and disabilities Angina Pectoris study group. N Engl J Med 332(10):635-641
72. Thorarensen O, Ryan S, Hunter J, Younkin DP (1997) Factor V Leiden mutation: An unrecognized cause of hemiplegic cerebral palsy, neonatal stroke, and placental thrombosis. Ann Neurol 42(3):372-375
73. Thorngren-Jerneck K, Herbst A (2006) Perinatal factors associated with cerebral palsy in children born in Sweden. Obstet Gynecol 108(6):1499-1505
74. Vagiakou EA, Voudris KA, Dimitriou Y, Skardoutsou A, Mastroyianni S (2006) Different additional risk factors for cerebral infarctions associated with the factor V Leiden mutation in a family. J Child Neurol 21(10):903-907
75. Vigneswaran R, Aitchison SJ, McDonald HM, Khong TY, Hiller JE (2004) Cerebral palsy and placental infection: A case-cohort study. BMC Pregnancy Childbirth 4(1):1
76. Walker I (2000) Thrombophilia in pregnancy. J Clin Pathol 53:573-580
77. Wang G, Woo CW, Sung FL, Siow YL, O K (2002) Increased monocyte adhesion to aortic endothelium in rats with hyperhomocysteinemia: Role of chemokine and adhesion molecules. Arterioscler Thromb Vasc Biol 22(11):1777-1783
78. Welch G, Loscalzo J (1998) Homocysteine and atherothrombosis. N Engl J Med 338:1042-1051
79. Yehezkely-Schildkraut V, Kutai M, Hugeirat Y, Levin C, Shalev SA, Mazor G, Koren A (2005) Thrombophilia: A risk factor for cerebral palsy? Israel Med Assoc J 7(12):808-811
80. Yoon BH, Romero R, Kim CJ, Koo JN, Choe G, Syn HC, Chi JG (1997) High expression of tumor necrosis factor-alpha and interleukin-6 in periventricular leukomalacia. Am J Obstet Gynecol 177(2):406-411
81. Zaretsky MV, Alexander JM, Byrd W, Bawdon RE (2004) Transfer of inflammatory cytokines across the placenta. Obstet Gynecol 103(3):546-550
82. Zetterberg H, Regland B, Palmer M, Ricksten A, Palmqvist L, Rymo L, Arvanitis DA, Spandidos DA, Blennow K (2002) Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. Eur J Hum Genet 10(2):113-118