Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome

Acta Paediatrica, International Journal of Paediatrics

Volumn 96, Issue 7, 2007, Pages 985-989

  Thomas, Neal J ^a,c   Fan, Ruzong ^b   DiAngelo, Susan ^a   Hess, Joseph C ^a   Floros, Joanna ^a  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b TEXAS A AND M UNIVERSITY   (United States)

^c PENN STATE CHILDREN S HOSPITAL   (United States)

Author keywords

Genetics; Haplotype; Respiratory distress syndrome; Surfactant protein A; Surfactant protein D

Indexed keywords

DNA; SURFACTANT PROTEIN A; SURFACTANT PROTEIN D;

ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DNA ISOLATION; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; PARENT; PRIORITY JOURNAL; PROGENY; RESPIRATORY DISTRESS SYNDROME; VERTICAL TRANSMISSION;

ADULT; CHILD; FAMILY HEALTH; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INFANT, NEWBORN; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, GENETIC; PULMONARY SURFACTANT-ASSOCIATED PROTEIN A; PULMONARY SURFACTANT-ASSOCIATED PROTEIN D; RESPIRATORY DISTRESS SYNDROME, NEWBORN;

EID: 34250682506     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2007.00319.x     Document Type: Article

References (37)

1. The International HapMap Consortium. A haplotype map of the human genome. Nature 2005 437 : 1299 320.
2. Floros J, Karinch AM. Genetics of neonatal disease as they related to the surfactant protein genes. In : Robertson B, Taeusch HW, editors. Surfacant therapy for lung diseases. New York : Marcel Dekker, 1995 95 106.
3. Floros J, Kala P. Surfactant proteins: molecular genetics of neonatal pulmonary diseases. Annu Rev Physiol 1998 60 : 365 84.
4. Farrell PM, Wood RE. Epidemiology of hyaline membrane disease in the United States: analysis of national mortality statistics. Pediatrics 1976 58 : 167 76.
5. Khoury MJ, Marks JS, McCarthy BJ, Zaro SM. Factors affecting the sex differential in neonatal mortality: the role of respiratory distress syndrome. Am J Obstet Gynecol 1985 151 : 777 82.
6. Hulsey TC, Alexander GR, Robillard PY, et al. Hyaline membrane disease: the role of ethnicity and maternal risk characteristics. Am J Obstet Gynecol 1993 168 : 572 6.
7. Floros J, Fan R, Matthews A, DiAngelo S, Luo J, Nielsen H, et al. 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 2001 60 : 178 87.
8. Floros J, Veletza SV, Kotikalapudi P, Krizkova L, Karinch AM, Friedman C, et al. Dinucleotide repeats in the human surfactant protein-B gene and respiratory-distress syndrome. Biochem J 1995 305 (Pt 2 583 90.
9. Haataja R, Ramet M, Marttila R, Hallman M. Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome. Hum Mol Genet 2000 9 : 2751 60.
10. Kala P, Ten HT, Nielsen H, Dunn M, Floros J. Association of pulmonary surfactant protein A (SP-A) gene and respiratory distress syndrome: interaction with SP-B. Pediatr Res 1998 43 : 169 77.
11. Ramet M, Haataja R, Marttila R, Floros J, Hallman M. Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population. Am J Hum Genet 2000 66 : 1569 79.
12. Floros J, Fan R, Diangelo S, Guo X, Wert J, Luo J. Surfactant protein (SP) B associations and interactions with SP-A in white and black subjects with respiratory distress syndrome. Pediatr Int 2001 43 : 567 76.
13. Floros J, Phelps DS. Pulmonary surfactant. In : Yaksch TL, Lynch C, Maze M, Biebuyck JF, Saidman LJ, editors. Anesthesia: biological foundations. New York : Lippincott-Raven, 1997 1257 79.
14. Phelps DS. Pulmonary surfactant modulation of host-defense function. Appl Cardiopulm Pathophysiol 1995 5 : 221 9.
15. Hoover RR, Floros J. Organization of the human SP-A and SP-D loci at 10q22-q23. Physical and radiation hybrid mapping reveal gene order and orientation. Am J Respir Cell Mol Biol 1998 18 : 353 62.
16. Floros J, Hoover RR. Genetics of the hydrophilic surfactant proteins A and D. Biochim Biophys Acta 1998 1408 : 312 22.
17. Kolble K, Lu J, Mole SE, Kaluz S, Reid KB. Assignment of the human pulmonary surfactant protein D gene (SFTP4) to 10q22-q23 close to the surfactant protein A gene cluster. Genomics 1993 17 : 294 8.
18. Liu W, Bentley CM, Floros J. Study of human SP-A, SP-B and SP-D loci: allele frequencies, linkage disequilibrium and heterozygosity in different races and ethnic groups. BMC Genet 2003 4 : 13.
19. Diangelo S, Lin Z, Wang G, Phillips S, Ramet M, Luo J, et al. Novel, non-radioactive, simple and multiplex PCR-cRFLP methods for genotyping human SP-A and SP-D marker alleles. Dis Markers 1999 15 : 269 81.
20. Pavlovic J, Papagaroufalis C, Xanthou M, Liu W, Fan R, Thomas NJ, et al. Genetic variants of surfactant proteins A, B, and D in bronchopulmonary dysplasia. Dis Markers 2006 22 : 227 232.
21. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996 58 : 1347 63.
22. Fan R, Floros J, Xiong M. Transmission disequilibrium test of two unlinked disease loci; Application to respiratory distress syndrome. Adv Appl Stat 2001 1 : 277 308.
23. Marttila R, Haataja R, Ramet M, Pokela ML, Tammela O, Hallman M. Surfactant protein A gene locus and respiratory distress syndrome in Finnish premature twin pairs. Ann Med 2003 35 : 344 52.
24. Floros J, Fan R. Surfactant protein A and B genetic variants and respiratory distress syndrome: allele interactions. Biol Neonate 2001 80 (Suppl 1 22 5.
25. Leth-Larsen R, Garred P, Jensenius H, Meschi J, Hartshorn K, Madsen J, et al. A common polymorphism in the SFTPD gene influences assembly, function, and concentration of surfactant protein D. J Immunol 2005 174 : 1532 8.
26. Wang G, Phelps DS, Umstead TM, Floros J. Human SP-A protein variants derived from one or both genes stimulate TNF-alpha production in the THP-1 cell line. Am J Physiol Lung Cell Mol Physiol 2000 278 (5 L946 54.
27. Wang G, Umstead TM, Phelps DS, Al-Mondhiry H, Floros J. The effect of ozone exposure on the ability of human surfactant protein a variants to stimulate cytokine production. Environ Health Perspect 2002 110 : 79 84.
28. Huang W, Wang G, Phelps DS, Al-Mondhiry H, Floros J. Human SP-A genetic variants and bleomycin-induced cytokine production by THP-1 cells: effect of ozone-induced SP-A oxidation. Am J Physiol Lung Cell Mol Physiol 2004 286 : L546 53.
29. Mikerov AN, Umstead TM, Huang W, Liu W, Phelps DS, Floros J. SP-A1 and SP-A2 variants differentially enhance association of Pseudomonas aeruginosa with rat alveolar macrophages. Am J Physiol Lung Cell Mol Physiol 2005 288 : L150 8.
30. Wang G, Bates-Kenney SR, Tao JQ, Phelps DS, Floros J. Differences in biochemical properties and in biological function between human SP-A1 and SP-A2 variants, and the impact of ozone-induced oxidation. Biochemistry 2004 43 : 4227 39.
31. Choi EH, Ehrmantraut M, Foster CB, Moss J, Chanock SJ. Association of common haplotypes of surfactant protein A1 and A2 (SFTPA1 and SFTPA2) genes with severity of lung disease in cystic fibrosis. Pediatr Pulmonol 2006 41 : 255 62.
32. Lofgren J, Ramet M, Renko M, Marttila R, Hallman M. Association between surfactant protein A gene locus and severe respiratory syncytial virus infection in infants. J Infect Dis 2002 185 : 283 9.
33. Lahti M, Lofgren J, Marttila R, Renko M, Klaavuniemi T, Haataja R, et al. Surfactant protein D gene polymorphism associated with severe respiratory syncytial virus infection. Pediatr Res 2002 51 (6 696 9.
34. Ramet M, Lofgren J, Alho OP, Hallman M. Surfactant protein-A gene locus associated with recurrent otitis media. J Pediatr 2001 138 : 266 8.
35. Selman M, Lin HM, Montano M, Jenkins AL, Estrada A, Lin Z, et al. Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. Hum Genet 2003 113 : 542 50.
36. Floros J, Lin HM, Garcia A, Salazar MA, DiAngelo S, Montano M, et al. Surfactant protein genetic marker alleles identify a subgroup of tuberculosis in a Mexican population. J Infect Dis 2000 182 : 1473 8.
37. Seifart C, Lin HM, Seifart U, Plagens A, DiAngelo S, von Wichert P, et al. Rare SP-A alleles and the SP-A1-6A(4) allele associate with risk for lung carcinoma. Clin Genet 2005 68 : 128 36.