Family-based association tests suggest linkage between surfactant protein B (SP-B) (and flanking region) and respiratory distress syndrome (RDS): SP-B haplotypes and alleles from SP-B-linked loci are risk factors for RDS

Pediatric Research

Volumn 59, Issue 4 PART 1, 2006, Pages 616-621

  Floros, Joanna ^a   Thomas, Neal J ^a   Liu, Wenlei ^a   Papagaroufalis, Costas ^b   Xanthou, Marietta ^b   Pereira, Sunita ^c   Fan, Ruzong ^d   Guo, Xiaoxuan ^a   Diangelo, Susan ^a   Pavlovic, Jelena ^a  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^c TUFTS MEDICAL CENTER   (United States)

^d TEXAS A AND M UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GUANINE; SURFACTANT PROTEIN B; THYMINE;

ADULT; ALLELE; ARTICLE; CHILD; DISEASE ASSOCIATION; DNA FLANKING REGION; FAMILIAL DISEASE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; NEWBORN; PREMATURITY; PRIORITY JOURNAL; PROTECTION; RESPIRATORY DISTRESS SYNDROME; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; CHILD; FEMALE; HAPLOTYPES; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; PULMONARY SURFACTANT-ASSOCIATED PROTEIN B; RESPIRATORY DISTRESS SYNDROME, NEWBORN; RISK FACTORS;

EID: 33646690037     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.pdr.0000203145.48585.2c     Document Type: Article

References (46)

1. Floros J, Karinch AM 1995 Genetics of neonatal disease as they relate to the surfactant protein genes. In: Robertson B, Taeusch HW (eds) Surfactant Therapy for Lung Disease. Marcel Dekker, New York, pp 95-106
2. Floros J, Kala P 1998 Surfactant proteins: molecular genetics of neonatal pulmonary diseases. Annu Rev Physiol 60:365-384
3. deMello DE, Heyman S, Phelps DS, Floros J 1993 Immunogold localization of SP-A in lungs of infants dying from respiratory distress syndrome. Am J Pathol 142:1631-1640
4. deMello DE, Phelps DS, Patel G, Floros J, Lagunoff D 1989 Expression of the 35kDa and low molecular weight surfactant-associated proteins in the lungs of infants dying with respiratory distress syndrome. Am J Pathol 134:1285-1293
5. Moya FR, Montes HF, Thomas VL, Mouzinho AM, Smith JF, Rosenfeld CR 1994 Surfactant protein A and saturated phosphatidylcholine in respiratory distress syndrome. Am J Respir Crit Care Med 150:1672-1677
6. Floros J, Fan R, Matthews A, DiAngelo S, Luo J, Nielsen H, Dunn M, Gewolb IH, Koppe J, van Sonderen L, Farri-Kostopoulos L, Tzaki M, Ramet M, Merrill J 2001 Family-based transmission disequilibrium test (TDT) and case-control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences. Clin Genet 60:178-187
7. Floros J, Veletza SV, Kotikalapudi P, Krizkova L, Karinch AM, Friedman C, Buchter S, Marks K 1995 Dinucleotide repeats in the human surfactant protein-B gene and respiratory-distress syndrome. Biochem J 305:583-590
8. Haataja R, Ramet M, Marttila R, Hallman M 2000 Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome. Hum Mol Genet 9:2751-2760
9. Kala P, Ten Have T, Nielsen H, Dunn M, Floros J 1998 Association of pulmonary surfactant protein A (SP-A) gene and respiratory distress syndrome: interaction with SP-B. Pediatr Res 43:169-177
10. Rämet M, Haataja R, Marttila R, Floros J, Hallman M 2000 Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population. Am J Hum Genet 66:1569-1579
11. Floros J, Fan R, Diangelo S, Guo X, Wert J, Luo J 2001 Surfactant protein (SP) B associations and interactions with SP-A in white and black subjects with respiratory distress syndrome. Pediatr Int 43:567-576
12. Fan R, Floros J, Xiong M 2002 Transmission disequilibrium test of two unlinked disease loci: application to respiratory distress syndrome. Adv Appl in Stat 1:277-308
13. Clark JC, Weit SE, Bachurski CJ, Stahlman MT, Stripp BR, Weaver TE, Whitsett JA 1995 Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice. Proc Natl Acad Sci U S A 92:7794-7798
14. Nogee LM, Garnier G, Dietz HC, Singer L, Murphy AM, deMello DE, Colten HR 1994 A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest 93:1860-1863
15. Lin Z, deMello DE, Wallot M, Floros J 1998 An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4. Mol Genet Metab 64:25-35
16. Clark JC, Weaver TE, Iwamoto HS, Ikegami M, Jobe AH, Hull WM, Whitsett JA 1997 Decreased lung compliance and air trapping in heterozygous SP-B- deficient mice. Am J Respir Cell Mol Biol 16:46-52
17. Vamvakopoulos NC, Modi WS, Floros J 1995 Mapping the human pulmonary surfactant-associated protein B gene (SFTP3) to chromosome 2p12->p11.2. Cytogenet Cell Genet 68:8-10
18. Jacobs KA, Phelps DS, Steinbrink R, Fisch J, Kriz R, Mitsock L, Dougherty JP, Taeusch HW, Floros J 1987 Isolation of a cDNA clone encoding a high molecular weight precursor to a 6-kDa pulmonary surfactant-associated protein. J Biol Chem 262:9808-9811
19. Floros J, Phelps DS 1997 Pulmonary surfactant. In: Yaksh TL, Lynch C III, Zapol WM, Maze M, Biebuck J, Saidman LJ (eds) Anesthesia: Biologic Foundations. Lippincott-Raven, New York, pp 1259-1279
20. Kala P, Koptides M, Diangelo S, Hoover RR, Lin Z, Veletza V, Kouretas D, Floros J 1997 Characterization of markers flanking the human SP-B locus. Dis Markers 13:153-167
21. Weber JL 1990 Human DNA polymorphisms based on length variations in simple-sequence tandem repeats. In: Davies E, Tilghman SM (eds) Genetic and Physical Mapping. Cold Spring Harbor Laboratory Press, New York, pp 159-181
22. Weber JL, May PE 1989 Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388-396
23. Horvath S, Xu X, Laird NM 2001 The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 9:301-306
24. Horvath S, Xu X, Lake SL, Silverman EK, Weiss ST, Laird NM 2004 Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics. Genet Epidemiol 26:61-69
25. Laird NM, Horvath S, Xu X 2000 Implementing a unified approach to family-based tests of association. Genet Epidemiol 19:S36-S42
26. Lin Z, Pearson C, Chinchilli V, Pietschmann SM, Luo J, Pison U, Floros J 2000 Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS. Clin Genet 58:181-191
27. O'Connell J, Weeks DE 1998 PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266
28. Rabinowitz D, Laird N 2000 A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information. Hum Hered 50:211-223
29. Sham PC, Curtis D 1995 An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 59:323-336
30. Curtis D 1997 Use of siblings as controls in case-control association studies. Ann Hum Genet 61:319-333
31. Chen WM, Deng HW 2001 A general and accurate approach for computing the statistical power of the transmission disequilibrium test for complex disease genes. Genet Epidemiol 21:53-67
32. Floros J, Hoover RR 1998 Genetics of the hydrophilic surfactant proteins A and D. Biochim Biophys Acta 1408:312-322
33. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES 1996 Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
34. Spielman RS, Ewens WJ 1996 The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 59:983-989
35. Ernst WA, Thoma-Uszynski S, Teitelbaum R, Ko C, Hanson DA, Clayberger C, Krensky AM, Leippe M, Bloom BR, Ganz T, Modlin RL 2000 Granulysin, a T cell product, kills bacteria by altering membrane permeability. J Immunol 165:7102-7108
36. Ochoa MT, Stenger S, Sieling PA, Thoma-Uszynski S, Sabet S, Cho S, Krensky AM, Rollinghoff M, Nunes Sarno E, Burdick AE, Rea TH, Modlin RL 2001 T-cell release of granulysin contributes to host defense in leprosy. Nat Med 7:174-179
37. Kumar J, Okada S, Clayberger C, Krensky AM 2001 Granulysin: a novel antimicrobial. Expert Opin Investig Drugs 10:321-329
38. Krensky AM 2000 Granulysin: a novel antimicrobial peptide of cytolytic T lymphocytes and natural killer cells. Biochem Pharmacol 59:317-320
39. Gamen S, Hanson DA, Kaspar A, Naval J, Krensky AM, Anel A 1998 Granulysin-induced apoptosis. I. Involvement of at least two distinct pathways. J Immunol 161:1758-1764
40. Miles PR, Bowman L, Rao KM, Baatz JE, Huffman L 1999 Pulmonary surfactant inhibits LPS-induced nitric oxide production by alveolar macrophages. Am J Physiol 276:L186-L196
41. van Iwaarden JF, Claassen E, Jeurissen SH, Haagsman HP, Kraal G 2001 Alveolar macrophages, surfactant lipids, and surfactant protein B regulate the induction of immune responses via the airways. Am J Respir Cell Mol Biol 24:452-458
42. Epaud R, Ikegami M, Whitsett JA, Jobe AH, Weaver TE, Akinbi HT 2003 Surfactant protein B inhibits endotoxin-induced lung inflammation. Am J Respir Cell Mol Biol 28:373-378
43. Rich A, Nordheim A, Wang AH 1984 The chemistry and biology of left-handed Z-DNA. Annu Rev Biochem 53:791-846
44. McLean MJ, Wells RD 1988 The role of sequence in the stabilization of left-handed DNA helices in vitro and in vivo. Biochim Biophys Acta 950:243-254
45. Muller V, Takeya M, Brendel S, Wittig B, Rich A 1996 Z-DNA-forming sites within the human beta-globin gene cluster. Proc Natl Acad Sci U S A 93:780-784
46. Lapoumeroulie C, Castiglia L, Ruberto C, Fichera M, Amata S, Labie D, Ragusa A 1999 Genetic variations in human fetal globin gene microsatellites and their functional relevance. Hum Genet 104:307-314