Fetal and maternal candidate single nucleotide polymorphism associations with cerebral palsy: A case-control study

Pediatrics

Volumn 129, Issue 2, 2012, Pages

  O'Callaghan, Michael E ^a   MacLennan, Alastair H ^a   Gibson, Catherine S ^a   McMichael, Gai L ^a   Haan, Eric A ^b   Broadbent, Jessica L ^e   Dip, Grad ^a   Goldwater, Paul N ^c   Painter, Jodie N ^d   Montgomery, Grant W ^d   Dekker, Gus A ^a  

^a UNIVERSITY OF ADELAIDE   (Australia)

^b South Australia (SA) Clinical Genetics Service   (Australia)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^e NONE

Author keywords

Candidate gene; Case control; Cerebral palsy; SNP association

Indexed keywords

APOLIPOPROTEIN E; CHEMOKINE RECEPTOR CCR2; DNA; GELATINASE A; INTERLEUKIN 10; INTERLEUKIN 1BETA; INTERLEUKIN 4; INTERLEUKIN 6; INTERLEUKIN 8; MANNOSE BINDING LECTIN; PROTHROMBIN; STROMELYSIN; TOLL LIKE RECEPTOR 4; TRANSFORMING GROWTH FACTOR BETA1; TUMOR NECROSIS FACTOR ALPHA;

ADD1 GENE; ADOLESCENT; ADRB2 GENE; ADULT; APO E GENE; ARTICLE; BASE PAIRING; CASE CONTROL STUDY; CEREBRAL PALSY; CFH GENE; CHILD; CONTROLLED STUDY; CR2 1 GENE; CR2 2 GENE; CR2 3 GENE; DISEASE CLASSIFICATION; ENOS GENE; FEMALE; FVL GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE PRODUCT; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETICS; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; GESTATIONAL AGE; HAPLOTYPE; HEMIPLEGIA; HUMAN; IL 10 GENE; IL 1B GENE; IL 4 GENE; IL 6 GENE; IL 8 GENE; INFLAMMATION; INOS GENE; MAJOR CLINICAL STUDY; MALE; MBL GENE; MMP 2 GENE; MMP 3 GENE; MTHFR GENE; NPY GENE; PAI 2 GENE; PGM GENE; PHENOTYPE; PREGNANCY DISORDER; PREGNANCY INFECTION; PREMATURE LABOR; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTHROMBIN GENE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TGF B1 GENE; THBD GENE; THROMBOPHILIA; TLR4 GENE; TNF ALPHA GENE;

ADOLESCENT; APOLIPOPROTEINS E; AUSTRALIA; CASE-CONTROL STUDIES; CEREBRAL PALSY; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; MANNOSE-BINDING LECTIN; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PROTHROMBIN;

EID: 84856513041     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2011-0739     Document Type: Article

References (36)

1. Blair E, Watson L. Epidemiology of cerebral palsy. Semin Fetal Neonatal Med. 2006;11(2):117-125
2. Stanley F, Blair E, Alberman E. Cerebral Palsies: Epidemiology and Causal Pathways. Vol. 151. London, England: MacKeith Press; 2000
3. O'Callaghan ME, MacLennan AH, Haan EA, Dekker G; South Australian Cerebral Palsy Research Group. The genomic basis of cerebral palsy: a HuGE systematic literature review. Hum Genet. 2009;126(1):149-172
4. Nelson KB. Perinatal ischemic stroke. Stroke. 2007;38(suppl 2):742-745 (Pubitemid 46184251)
5. Gotsch F, Romero R, Kusanovic JP, et al. The fetal inflammatory response syndrome. Clin Obstet Gynecol. 2007;50(3):652-683 (Pubitemid 47357241)
6. Gibson CS, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA. The association between inherited cytokine polymorphisms and cerebral palsy. Am J Obstet Gynecol. 2006;194(3):674.e1-e11
7. O'Callaghan ME, Maclennan AH, Gibson CS, et al. The Australian cerebral palsy research study - protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy. J Paediatr Child Health. 2011;47(3):99-110
8. McMichael GL, Gibson CS, O'Callaghan ME, et al South Australian Cerebral Palsy Research Group. DNA from buccal swabs suitable for high-throughput SNP multiplex analysis. J Biomol Tech. 2009;20(5):232-235
9. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559-575 (Pubitemid 47330214)
10. Painter JN, Anderson CA, Nyholt DR, et al. Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nat Genet. 2011;43(1):51-54
11. McMichael GL, Gibson CS, Goldwater PN, et al South Australian Cerebral Palsy Research Group. Association between apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population. Hum Genet. 2008;124(4):411-416
12. Gibson CS, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA. Mannose-binding lectin haplotypes may be associated with cerebral palsy only after perinatal viral exposure. Am J Obstet Gynecol. 2008;198(5):509.e1-e8
13. de Messias-Reason IJ, Boldt AB, Moraes Braga AC, et al. The association between mannan-binding lectin gene polymorphism and clinical leprosy: new insight into an old paradigm. J Infect Dis. 2007;196(9):1379-1385 (Pubitemid 351412011)
14. Gibson CS, MacLennan AH, Hague WM, et al South Australian Cerebral Palsy Research Group. Associations between inherited thrombophilias, gestational age, and cerebral palsy. Am J Obstet Gynecol. 2005;193(4):1437
15. Yehezkely-Schildkraut V, Kutai M, Hugeirat Y, et al. Thrombophilia: a risk factor for cerebral palsy? Isr Med Assoc J. 2005;7(12):808-811 (Pubitemid 43009243)
16. Nelson KB, Dambrosia JM, Iovannisci DM, Cheng S, Grether JK, Lammer E. Genetic polymorphisms and cerebral palsy in very preterm infants. Pediatr Res. 2005;57(4):494-499 (Pubitemid 40389336)
17. Werler MM, Pober BR, Nelson K, Holmes LB. Reporting accuracy among mothers of malformed and nonmalformed infants. Am J Epidemiol. 1989;129(2):415-421 (Pubitemid 19047007)
18. Cleary R, Beard RW, Coles J, et al. The quality of routinely collected maternity data. Br J Obstet Gynaecol. 1994;101(12):1042-1047 (Pubitemid 24376865)
19. Halliday JL, Reddihough D, Byron K, Ekert H, Ditchfield M. Hemiplegic cerebral palsy and the factor V Leiden mutation. J Med Genet. 2000;37(10):787-789
20. Fattal-Valevski A, Kenet G, Kupferminc MJ, et al. Role of thrombophilic risk factors in children with non-stroke cerebral palsy. Thromb Res. 2005;116(2):133-137 (Pubitemid 40720190)
21. Reid S, Halliday J, Ditchfield M, et al. Factor V Leiden mutation: a contributory factor for cerebral palsy? Dev Med Child Neurol. 2006;48(1):14-19 (Pubitemid 43124452)
22. Said JM, Brennecke SP, Moses EK, et al. The prevalence of inherited thrombophilic polymorphisms in an asymptomatic Australian antenatal population. Aust N Z J Obstet Gynaecol. 2008;48(6):536-541
23. Gibson CS, MacLennan AH, Rudzki Z, et al South Australian Cerebral Palsy Research Group. The prevalence of inherited thrombophilias in a Caucasian Australian population. Pathology. 2005;37(2):160-163 (Pubitemid 40593410)
24. Alfirevic Z, Roberts D, Martlew V. How strong is the association between maternal thrombophilia and adverse pregnancy outcome? A systematic review. Eur J Obstet Gynecol Reprod Biol. 2002;101(1):6-14 (Pubitemid 34142238)
25. Kupferminc MJ, Eldor A, Steinman N, et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med. 1999;340(1):9-13 (Pubitemid 29024678)
26. Djukic M, Gibson CS, Maclennan AH, et al. Genetic susceptibility to viral exposure may increase the risk of cerebral palsy. Aust N Z J Obstet Gynaecol. 2009;49(3):247-253
27. Wu YW, Croen LA, Torres AR, Van De Water J, Grether JK, Hsu NN. Interleukin-6 genotype and risk for cerebral palsy in term and near-term infants. Ann Neurol. 2009;66(5):663-670
28. Zaretsky MV, Alexander JM, Byrd W, Bawdon RE. Transfer of inflammatory cytokines across the placenta. Obstet Gynecol. 2004;103(3):546-550 (Pubitemid 40459072)
29. Jacobsson B, Hagberg G, Hagberg B, Ladfors L, Niklasson A, Hagberg H. Cerebral palsy in preterm infants: a population-based case-control study of antenatal and intrapartal risk factors. Acta Paediatr. 2002;91(8):946-951 (Pubitemid 34876230)
30. Nelson KB, Willoughby RE. Overview: infection during pregnancy and neurologic outcome in the child. Ment Retard Dev Disabil Res Rev. 2002;8(1):1-2 (Pubitemid 34754486)
31. Kraft P. Curses - winner's and otherwise - in genetic epidemiology. Epidemiology. 2008;19(5):649-651; discussion 657-648
32. Colhoun HM, McKeigue PM, Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet. 2003;361(9360):865-872 (Pubitemid 36331853)
33. Glessner JT, Wang K, Cai G, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009;459(7246):569-573
34. McMullan DJ, Bonin M, Hehir-Kwa JY, et al. Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat. 2009;30(7):1082-1092
35. Heinzen EL, Radtke RA, Urban TJ, et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet. 2010;86(5):707-718
36. Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature. 2008;455(7210):232-236