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Volumn 22, Issue 2, 2010, Pages 134-138

Genetics of bronchopulmonary dysplasia in the age of genomics

Author keywords

Bronchopulmonary dysplasia; Genetic association studies; Heredity; Premature infant; Pulmonary disease

Indexed keywords

MANNOSE BINDING LECTIN 2; MATRIX METALLOPROTEINASE 16; SURFACTANT PROTEIN B; TUMOR NECROSIS FACTOR ALPHA; VASCULOTROPIN;

EID: 77952257251     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e328336eb85     Document Type: Review
Times cited : (46)

References (56)
  • 2
    • 0037420266 scopus 로고    scopus 로고
    • Impact of Bronchopulmonary Dysplasia, Brain Injury, and Severe Retinopathy on the Outcome of Extremely Low-Birth-Weight Infants at 18 Months: Results from the Trial of Indomethacin Prophylaxis in Preterms
    • DOI 10.1001/jama.289.9.1124
    • Schmidt B, Asztalos EV, Roberts RS, et al. Impact of bronchopulmonary dysplasia, brain injury, and severe retinopathy on the outcome of extremely low-birth-weight infants at 18 months: results from the trial of indomethacin prophylaxis in preterms. J Am Med Assoc 2003;289:1124-1129. (Pubitemid 37430326)
    • (2003) Journal of the American Medical Association , vol.289 , Issue.9 , pp. 1124-1129
    • Schmidt, B.1    Asztalos, E.V.2    Roberts, R.S.3    Robertson, C.M.T.4    Sauve, R.S.5    Whitfield, M.F.6
  • 4
    • 66249126322 scopus 로고    scopus 로고
    • Pitfalls, problems, and progress in bronchopulmonary dysplasia
    • Bhandari A, Bhandari V. Pitfalls, problems, and progress in bronchopulmonary dysplasia. Pediatrics 2009;123:1562-1573.
    • (2009) Pediatrics , vol.123 , pp. 1562-1573
    • Bhandari, A.1    Bhandari, V.2
  • 5
    • 77953446523 scopus 로고    scopus 로고
    • The human gene mutation database: 2008 update
    • human gene mutation database constitutes the largest inventory of genetic variants. The database currently includes over 85 000 lesions detected in 3253 genes, accumulated through an international consortium of scientists. Reported entries include either disease-causing mutations or disease-associated polymorphisms, as well as some genetic polymorphisms that have clear physiological effects without necessarily having been associated with a specific human disease
    • Stenson PD, Mort M, Ball EV, et al. The human gene mutation database: 2008 update. Genome Med 2009;1:13. The human gene mutation database constitutes the largest inventory of genetic variants. The database currently includes over 85 000 lesions detected in 3253 genes, accumulated through an international consortium of scientists. Reported entries include either disease-causing mutations or disease-associated polymorphisms, as well as some genetic polymorphisms that have clear physiological effects without necessarily having been associated with a specific human disease.
    • (2009) Genome Med. , vol.1 , pp. 13
    • Stenson, P.D.1    Mort, M.2    Ball, E.V.3
  • 6
    • 52949141845 scopus 로고    scopus 로고
    • Integrated detection and population-genetic analysis of SNPs and copy number variation
    • McCarroll SA, Kuruvilla FG, Korn JM, et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008;40:1166-1174.
    • (2008) Nat. Genet. , vol.40 , pp. 1166-1174
    • McCarroll, S.A.1    Kuruvilla, F.G.2    Korn, J.M.3
  • 7
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure J, Ji H. Next-generation DNA sequencing. Nat Biotechnol 2008;26:1135-1145.
    • (2008) Nat. Biotechnol. , vol.26 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 8
    • 35348983887 scopus 로고    scopus 로고
    • A second generation human haplotype map of over 3.1 million snps
    • Frazer KA, Ballinger DG, Cox DR, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007;449:851-861.
    • (2007) Nature , vol.449 , pp. 851-861
    • Frazer, K.A.1    Ballinger, D.G.2    Cox, D.R.3
  • 10
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • Hindorff LA, Sethupathy P, Junkins HA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009;106:9362-9367.
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 9362-9367
    • Hindorff, L.A.1    Sethupathy, P.2    Junkins, H.A.3
  • 11
    • 55449120805 scopus 로고    scopus 로고
    • Genetic mapping in human disease
    • Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science 2008;322:881-888.
    • (2008) Science , vol.322 , pp. 881-888
    • Altshuler, D.1    Daly, M.J.2    Lander, E.S.3
  • 12
    • 43249125992 scopus 로고    scopus 로고
    • Estimation of the multiple testing burden for genomewide association studies of nearly all common variants
    • DOI 10.1002/gepi.20303
    • Pe'er I, Yelensky R, Altshuler D, Daly MJ. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol 2008;32:381-385. (Pubitemid 351656309)
    • (2008) Genetic Epidemiology , vol.32 , Issue.4 , pp. 381-385
    • Pe'er, I.1    Yelensky, R.2    Altshuler, D.3    Daly, M.J.4
  • 13
    • 43249090541 scopus 로고    scopus 로고
    • A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms
    • DOI 10.1002/gepi.20310
    • Gao X, Starmer J, Martin ER. A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms. Genet Epidemiol 2008;32:361-369. (Pubitemid 351656307)
    • (2008) Genetic Epidemiology , vol.32 , Issue.4 , pp. 361-369
    • Gao, X.1    Starmer, J.2    Martin, E.R.3
  • 14
    • 4143076901 scopus 로고    scopus 로고
    • Efficient computation of significance levels for multiple associations in large studies of correlated data, including genomewide association studies
    • DOI 10.1086/423738
    • Dudbridge F, Koeleman BP. Efficient computation of significance levels for multiple associations in large studies of correlated data, including genomewide association studies. Am J Hum Genet 2004;75:424-435. (Pubitemid 39095818)
    • (2004) American Journal of Human Genetics , vol.75 , Issue.3 , pp. 424-435
    • Dudbridge, F.1    Koeleman, B.P.C.2
  • 15
    • 0026468055 scopus 로고
    • Empirical bayes methods for testing associations with large numbers of candidate genes in the presence of environmental risk factors, with applications to HLA associations in IDDM
    • Thomas D, Langholz B, Clayton D, et al. Empirical Bayes methods for testing associations with large numbers of candidate genes in the presence of environmental risk factors, with applications to HLA associations in IDDM. Ann Med 1992;24:387-392.
    • (1992) Ann. Med. , vol.24 , pp. 387-392
    • Thomas, D.1    Langholz, B.2    Clayton, D.3
  • 16
    • 65249183403 scopus 로고    scopus 로고
    • Meta-analysis in genome-wide association studies
    • Zeggini E, Ioannidis JP. Meta-analysis in genome-wide association studies. Pharmacogenomics 2009;10:191-201.
    • (2009) Pharmacogenomics , vol.10 , pp. 191-201
    • Zeggini, E.1    Ioannidis, J.P.2
  • 17
    • 67649649555 scopus 로고    scopus 로고
    • Tumour necrosis factor (-308a) poly-morphism in very preterm infants with broncho-pulmonary dysplasia: Metaanalysis
    • This is a well conducted meta-analysis and largest study reporting a genetic association with BPD. Associations with nucleotide substitutions at position-308 in the TNF-αgene did not remain significant after studies were combined
    • Chauhan M, Bombell S, McGuire W. Tumour necrosis factor (-308A) poly-morphism in very preterm infants with broncho-pulmonary dysplasia: metaanalysis. Arch Dis Child Fetal Neonatal Ed 2009; 94: F257-F259. This is a well conducted meta-analysis and largest study reporting a genetic association with BPD. Associations with nucleotide substitutions at position-308 in the TNF-αgene did not remain significant after studies were combined.
    • (2009) Arch. Dis. Child Fetal Neonatal Ed. , vol.94
    • Chauhan, M.1    Bombell, S.2    McGuire, W.3
  • 18
    • 0023272401 scopus 로고
    • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers
    • Avery ME, Tooley WH, Keller JB, et al. Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. Pediatrics 1987;79:26-30. (Pubitemid 17060953)
    • (1987) Pediatrics , vol.79 , Issue.1 , pp. 26-30
    • Avery, M.E.1    Tooley, W.H.2    Keller, J.B.3
  • 19
    • 0023813773 scopus 로고
    • Variability in 28-day outcomes for very low birth weight infants: An analysis of 11 neonatal intensive care units
    • Horbar JD, McAuliffe TL, Adler SM, et al. Variability in 28-day outcomes for very low birth weight infants: an analysis of 11 neonatal intensive care units. Pediatrics 1988;82:554-559.
    • (1988) Pediatrics , vol.82 , pp. 554-559
    • Horbar, J.D.1    McAuliffe, T.L.2    Adler, S.M.3
  • 20
    • 0029809766 scopus 로고    scopus 로고
    • Evidence from twin study implies possible genetic susceptibility to bronchopulmonary dysplasia
    • Parker RA, Lindstrom DP, Cotton RB. Evidence from twin study implies possible genetic susceptibility to bronchopulmonary dysplasia. Semin Perinatol 1996;20:206-209.
    • (1996) Semin Perinatol , vol.20 , pp. 206-209
    • Parker, R.A.1    Lindstrom, D.P.2    Cotton, R.B.3
  • 22
    • 51649115601 scopus 로고    scopus 로고
    • Heritability of bronchopulmonary dysplasia, defined according to the consensus statement of the national institutes of health
    • Classic twin analyses confirmed the substantial >79% genetic contribution to BPD susceptibility, as well as to persistence of the ductus arteriosus. The conclusion is strengthened by the use of two validated case BPD definitions, including the National Institute of Child Health and Human Development consensus definition. In this study population, mild BPD, which generally has low longterm prognostic value, was mainly attributable to shared environmental effects. In contrast, moderate or severe BPD was attributable to strong genetic factors and therefore indicates a valid outcome to use in genetic association studies
    • 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. Classic twin analyses confirmed the substantial (>79%) genetic contribution to BPD susceptibility, as well as to persistence of the ductus arteriosus. The conclusion is strengthened by the use of two validated case BPD definitions, including the National Institute of Child Health and Human Development consensus definition. In this study population, mild BPD, which generally has low longterm prognostic value, was mainly attributable to shared environmental effects. In contrast, moderate or severe BPD was attributable to strong genetic factors and therefore indicates a valid outcome to use in genetic association studies.
    • (2008) Pediatrics , vol.122 , pp. 479-485
    • Lavoie, P.M.1    Pham, C.2    Jang, K.L.3
  • 26
    • 16544364886 scopus 로고    scopus 로고
    • Polymorphism of tumor necrosis factor-alpha and risk and severity of bronchopulmonary dysplasia among very low birth weight infants
    • Kazzi SN, Kim UO, Quasney MW, Buhimschi I. Polymorphism of tumor necrosis factor-alpha and risk and severity of bronchopulmonary dysplasia among very low birth weight infants. Pediatrics 2004; 114: e243-e248.
    • (2004) Pediatrics , vol.114
    • Kazzi, S.N.1    Kim, U.O.2    Quasney, M.W.3    Buhimschi, I.4
  • 27
    • 33846155242 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms of tumor necrosis factor-α and the susceptibility to bronchopulmonary dysplasia
    • DOI 10.1002/ppul.20526
    • Strassberg SS, Cristea IA, Qian D, Parton LA. Single nucleotide polymorphisms of tumor necrosis factor-alpha and the susceptibility to bronchopulmonary dysplasia. Pediatr Pulmonol 2007;42:29-36. (Pubitemid 46080150)
    • (2007) Pediatric Pulmonology , vol.42 , Issue.1 , pp. 29-36
    • Strassberg, S.S.1    Cristea, I.A.2    Qian, D.3    Parton, L.A.4
  • 29
    • 34250665569 scopus 로고    scopus 로고
    • Surfactant Protein Polymorphisms and Neonatal Lung Disease
    • DOI 10.1053/j.semperi.2006.09.002, PII S0146000506001182, Inherited Respiratory Disorders in the Neonate
    • Hallman M, Haataja R. Surfactant protein polymorphisms and neonatal lung disease. Semin Perinatol 2006;30:350-361. (Pubitemid 44827228)
    • (2006) Seminars in Perinatology , vol.30 , Issue.6 , pp. 350-361
    • Hallman, M.1    Haataja, R.2
  • 30
    • 2942731687 scopus 로고    scopus 로고
    • Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia
    • DOI 10.1093/hmg/ddh132
    • Rova M, Haataja R, Marttila R, et al. Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia. Hum Mol Genet 2004;13:1095-1104. (Pubitemid 38786992)
    • (2004) Human Molecular Genetics , vol.13 , Issue.11 , pp. 1095-1104
    • Rova, M.1    Haataja, R.2    Marttila, R.3    Ollikainen, V.4    Tammela, O.5    Hallman, M.6
  • 31
    • 22544458455 scopus 로고    scopus 로고
    • Deletions within a CA-repeat-rich region of intron 4 of the human SP-B gene affect mRNA splicing
    • DOI 10.1042/BJ20042032
    • Lin Z, Thomas NJ, Wang Y, et al. Deletions within a CA-repeat-rich region of intron 4 of the human SP-B gene affect mRNA splicing. Biochem J 2005;389:403-412. (Pubitemid 41021144)
    • (2005) Biochemical Journal , vol.389 , Issue.2 , pp. 403-412
    • Lin, Z.1    Thomas, N.J.2    Wang, Y.3    Guo, X.4    Seifart, C.5    Shakoor, H.6    Floros, J.7
  • 33
    • 0742306416 scopus 로고    scopus 로고
    • 1 (GST-P1) polymorphisms with bronchopulmonary dysplasia
    • DOI 10.1038/sj.jp.7211020
    • Manar MH, Brown MR, Gauthier TW, Brown LA. Association of glutathione-S-transferase-P1 (GST-P1) polymorphisms with bronchopulmonary dysplasia. J Perinatol 2004;24:30-35. (Pubitemid 38159800)
    • (2004) Journal of Perinatology , vol.24 , Issue.1 , pp. 30-35
    • Manar, M.H.1    Brown, M.R.2    Gauthier, T.W.3    Brown, L.A.S.4
  • 34
    • 2542497911 scopus 로고    scopus 로고
    • Human mannose-binding lectin in immunity: Friend, foe, or both?
    • Casanova JL, Abel L. Human mannose-binding lectin in immunity: friend, foe, or both? J Exp Med 2004;199:1295-1299.
    • (2004) J. Exp. Med. , vol.199 , pp. 1295-1299
    • Casanova, J.L.1    Abel, L.2
  • 37
    • 43349092154 scopus 로고    scopus 로고
    • Mannose-binding lectin and pulmonary morbidity in premature infants
    • author reply 778
    • Agbeko RS, Peters MJ. Mannose-binding lectin and pulmonary morbidity in premature infants. Intensive Care Med 2008;34:777; author reply 778.
    • (2008) Intensive Care Med. , vol.34 , pp. 777
    • Agbeko, R.S.1    Peters, M.J.2
  • 38
    • 27144509839 scopus 로고    scopus 로고
    • Vascular endothelial growth factor gene therapy increases survival, promotes lung angiogenesis, and prevents alveolar damage in hyperoxia-induced lung injury: Evidence that angiogenesis participates in alveolarization
    • DOI 10.1161/CIRCULATIONAHA.105.541524
    • Thebaud B, Ladha F, Michelakis ED, et al. Vascular endothelial growth factor gene therapy increases survival, promotes lung angiogenesis, and prevents alveolar damage in hyperoxia-induced lung injury: evidence that angiogenesis participates in alveolarization. Circulation 2005;112:2477-2486. (Pubitemid 41504498)
    • (2005) Circulation , vol.112 , Issue.16 , pp. 2477-2486
    • Thebaud, B.1    Ladha, F.2    Michelakis, E.D.3    Sawicka, M.4    Thurston, G.5    Eaton, F.6    Hashimoto, K.7    Harry, G.8    Haromy, A.9    Korbutt, G.10    Archer, S.L.11
  • 39
    • 57849144701 scopus 로고    scopus 로고
    • Genetic risk factors of bronchopulmonary dysplasia
    • Kwinta P, Bik-Multanowski M, Mitkowska Z, et al. Genetic risk factors of bronchopulmonary dysplasia. Pediatr Res 2008;64:682-688.
    • (2008) Pediatr. Res. , vol.64 , pp. 682-688
    • Kwinta, P.1    Bik-Multanowski, M.2    Mitkowska, Z.3
  • 40
    • 52649167879 scopus 로고    scopus 로고
    • Matrix metalloproteinase gene polymorphisms and bronchopulmonary dysplasia: Identification of MMP16 as a new player in lung development
    • Hadchouel A, Decobert F, Franco-Montoya ML, et al. Matrix metalloproteinase gene polymorphisms and bronchopulmonary dysplasia: identification of MMP16 as a new player in lung development. PLoS ONE 2008; 3: e3188.
    • (2008) PLoS ONE , vol.3
    • Hadchouel, A.1    Decobert, F.2    Franco-Montoya, M.L.3
  • 43
    • 74049164711 scopus 로고    scopus 로고
    • Lack of association between FXIII-Val34Leu, FVII-323 del/ins, and transforming growth factor beta1 (915G/T) gene polymorphisms and bronchopulmonary dysplasia (a single-center study)
    • Atac FB, Ince DA, Verdi H, et al. Lack of association between FXIII-Val34Leu, FVII-323 del/ins, and transforming growth factor beta1 (915G/T) gene polymorphisms and bronchopulmonary dysplasia (a single-center study). DNA Cell Biol 2009;29:13-18.
    • (2009) DNA Cell. Biol. , vol.29 , pp. 13-18
    • Atac, F.B.1    Ince, D.A.2    Verdi, H.3
  • 44
    • 28844442609 scopus 로고    scopus 로고
    • Deletion allele of angiotensin-converting enzyme is associated with increased risk and severity of bronchopulmonary dysplasia
    • Kazzi SN, Quasney MW. Deletion allele of angiotensin-converting enzyme is associated with increased risk and severity of bronchopulmonary dysplasia. J Pediatr 2005;147:818-822.
    • (2005) J. Pediatr. , vol.147 , pp. 818-822
    • Kazzi, S.N.1    Quasney, M.W.2
  • 45
    • 12944287768 scopus 로고    scopus 로고
    • The Angiotensin Converting Enzyme Insertion/Deletion polymorphism is not associated with an increased risk of death or bronchopulmonary dysplasia in ventilated very low birth weight infants
    • DOI 10.1186/1471-2431-4-26
    • Yanamandra K, Loggins J, Baier RJ. The angiotensin converting enzyme insertion/deletion polymorphism is not associated with an increased risk of death or bronchopulmonary dysplasia in ventilated very low birth weight infants. BMC Pediatr 2004;4:26. (Pubitemid 40177063)
    • (2004) BMC Pediatrics , vol.4 , pp. 26
    • Yanamandra, K.1    Loggins, J.2    Baier, R.J.3
  • 46
    • 33846337879 scopus 로고    scopus 로고
    • +874A and interleukin 12 p40 promoter CTCTAA/GC polymorphism with the need for respiratory support and perinatal complications in low birthweight neonates
    • DOI 10.1136/adc.2005.086421
    • Bokodi G, Derzbach L, Banyasz I, et al. Association of interferon gamma T+874A and interleukin 12 p40 promoter CTCTAA/GC polymorphism with the need for respiratory support and perinatal complications in low birthweight neonates. Arch Dis Child Fetal Neonatal Ed 2007; 92: F25-F29. (Pubitemid 46132962)
    • (2007) Archives of Disease in Childhood: Fetal and Neonatal Edition , vol.92 , Issue.1
    • Bokodi, G.1    Derzbach, L.2    Banyasz, I.3    Tulassay, T.4    Vasarhelyi, B.5
  • 49
    • 0029858544 scopus 로고    scopus 로고
    • The TDT and other family-based tests for linkage disequilibrium and association
    • Spielman RS, Ewens WJ. The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 1996;59:983-989.
    • (1996) Am. J. Hum Genet. , vol.59 , pp. 983-989
    • Spielman, R.S.1    Ewens, W.J.2
  • 50
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • DOI 10.1038/ng1847, PII NG1847
    • Price AL, Patterson NJ, Plenge RM, et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006;38:904-909. (Pubitemid 44141658)
    • (2006) Nature Genetics , vol.38 , Issue.8 , pp. 904-909
    • Price, A.L.1    Patterson, N.J.2    Plenge, R.M.3    Weinblatt, M.E.4    Shadick, N.A.5    Reich, D.6
  • 52
    • 34547684591 scopus 로고    scopus 로고
    • Human population structure detection via multilocus genotype clustering
    • Gao X, Starmer J. Human population structure detection via multilocus genotype clustering. BMC Genet 2007;8:34.
    • (2007) BMC Genet. , vol.8 , pp. 34
    • Gao, X.1    Starmer, J.2
  • 53
    • 0035121797 scopus 로고    scopus 로고
    • Accounting for unmeasured population substructure in case-control studies of genetic association using a novel latent-class model
    • DOI 10.1086/318195
    • Satten GA, Flanders WD, Yang Q. Accounting for unmeasured population substructure in case-control studies of genetic association using a novel latent-class model. Am J Hum Genet 2001;68:466-477. (Pubitemid 32147815)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.2 , pp. 466-477
    • Satten, G.A.1    Flanders, W.D.2    Yang, Q.3
  • 54
    • 53849093458 scopus 로고    scopus 로고
    • What DO we mean by 'replication' and 'validation' in genome-wide association studies?
    • Igl BW, Konig IR, Ziegler A. What do we mean by 'replication' and 'validation' in genome-wide association studies? Hum Hered 2009;67:66-68.
    • (2009) Hum Hered , vol.67 , pp. 66-68
    • Igl, B.W.1    Konig, I.R.2    Ziegler, A.3
  • 55
    • 65949124249 scopus 로고    scopus 로고
    • Genomewide association studies: Illuminating biologic pathways
    • Hirschhorn JN. Genomewide association studies: illuminating biologic pathways. N Engl J Med 2009;360:1699-1701.
    • (2009) N Engl. J. Med. , vol.360 , pp. 1699-1701
    • Hirschhorn, J.N.1
  • 56
    • 20344401099 scopus 로고    scopus 로고
    • Impact of postnatal systemic corticosteroids on mortality and cerebral palsy in preterm infants: Effect modification by risk for chronic lung disease
    • Doyle LW, Halliday HL, Ehrenkranz RA, et al. Impact of postnatal systemic corticosteroids on mortality and cerebral palsy in preterm infants: effect modification by risk for chronic lung disease. Pediatrics 2005;115:655-661.
    • (2005) Pediatrics , vol.115 , pp. 655-661
    • Doyle, L.W.1    Halliday, H.L.2    Ehrenkranz, R.A.3


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