Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population

American Journal of Human Genetics

Volumn 66, Issue 5, 2000, Pages 1569-1579

  Rämet, Mika ^a   Haataja, Ritva ^a   Marttila, Riitta ^b   Floros, Joanna ^c   Hallman, Mikko ^a  

^a UNIVERSITY OF OULU   (Finland)

^b SOUTH OSTROBOTHNIA CENTRAL HOSPITAL   (Finland)

^c PENN STATE COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUCOCORTICOID; SURFACTANT PROTEIN A;

ARTICLE; CONTROLLED STUDY; CORTICOSTEROID THERAPY; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENOTYPE; GESTATIONAL AGE; HAPLOTYPE; HUMAN; INFANT; INTRON; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PREMATURITY; PRIORITY JOURNAL; REGRESSION ANALYSIS; RESPIRATORY DISTRESS SYNDROME; RISK FACTOR;

EID: 0033926355     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302906     Document Type: Article

References (46)

1. Avery ME, Mead J (1959) Surface properties in relation to atelectasis and hyaline membrane disease. Am J Dis Child 97:517-523
2. Bruns G, Stroh H, Veldman GM, Latt SA, Floros J (1987) The 35 kd pulmonary surfactant-associated protein is encoded on chromosome 10. Hum Genet 76:58-62
3. Cockshutt AM, Weitz J, Possmayer F (1990) Pulmonary surfactant-associated protein A enhances the surface activity of lipid extract surfactant and reverses inhibition by blood proteins in vitro. Biochemistry 29:8424-8429
4. Crouch EC (1998) Collectins and pulmonary host defense. Am J Respir Cell Mol Biol 19:177-201
5. Crowley PA (1995) Antenatal corticosteroid therapy: a meta-analysis of the randomized trials, 1972 to 1994. Am J Obstet Gynecol 173:322-335
6. de la Chapelle A (1993) Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30:857-865
7. deMello DE, Hayman S, Phelps D, Floros J (1993) Immunogold localization of SP-A in lungs of infants dying from respiratory distress syndrome. Am J Pathol 142:1631-1640
8. deMello DE, Phelps DS, Patel G, Floros J, Lagunoff D (1989) Expression of the 35-kDa and low molecular weight surfactant-associated proteins in the lungs of the infants dying with respiratory distress syndrome. Am J Pathol 134: 1285-1293
9. DiAngelo S, Lin Z, Wang G, Phillips S, Kämet M, Luo J, Floros J (1999) Novel, non-radioactive, simple and multiplex PCR-cRFLP method for genotyping human SP-A and SP-D marker alleles. Dis Markers 15:269-281
10. Eggleton P, Reid KB (1999) Lung surfactant proteins involved in innate immunity. Curr Opin Immunol 11:28-33
11. Farrell PM, Wood RE (1976) Epidemiology of hyaline membrane disease in the United States: analysis of national mortality statistics. Pediatrics 58:167-176
12. Fisher JH, Kao FT, Jones C, White RT, Benson BJ, Mason RJ (1987) The coding sequence for the 32,000-dalton pulmonary surfactant-associated protein A is located on chromosome 10 and identifies two separate restriction-fragment-length polymorphisms. Am J Hum Genet 40:503-511
13. Floros J, DiAngelo S, Koptides M, Karinch AM, Rogan PK, Nielsen H, Spragg RG, et al (1996) Human SP-A locus: Allele frequencies and linkage disequilibrium between the two surfactant protein A genes. Am J Respir Cell Mol Biol 15:489-498
14. Floros J, Hoover RR (1998) Genetics of the hydrophilic surfactant proteins A and D. Biochim Biophys Acta 1408: 312-322
15. Floros J, Kala P (1998) Surfactant proteins: molecular genetics of neonatal respiratory diseases. Annu Rev Physiol 60: 365-384
16. Floros J, Phelps DS, deMello DE, Longmate J, Harding H, Benson B, White T (1991) The utility of postmortem lung for RNA studies; variability and correlation of the expression of surfactant proteins in human lung. Exp Lung Res 17:91-104
17. Floros J, Veletza SV, Kotikalapudi P, Krizkova L, Karinch AM, Friedman C, Buchter, et al (1995) Dinucleotide repeats in the human surfactant protein B gene and respiratory distress syndrome. Biochem J 305:583-590
18. Gluck L, Kulovich MV, Borer RC Jr, Brenner PH, Anderson GG, Spellacy WN (1971) Diagnosis of the respiratory distress syndrome by amniocentesis. Am J Obstet Gynecol 109: 440-445
19. Graven SN, Mesenheimer HR (1965) Respiratory distress syndrome and the high risk mother. Am J Dis Child 109: 489-494
20. Hafez M, El-Sallab SH, Khashaba M, Risk MS, el-Morsy Z, Bassiony MR, el-Kenawy F, et al (1989) Evidence of HLA-linked susceptibility gene(s) in respiratory distress syndrome. Dis Markers 7:201-208
21. Hallman M (1992) Antenatal diagnosis of lung maturity. In: Robertson B, Van Golde LMG, Batenburg JJ (eds) Pulmonary surfactant: from molecular biology to clinical practice. Elsevier, Amsterdam, pp 425-458
22. Hallman M, Arjomaa P, Mizumoto M, Akino T (1988) Surfactant proteins in the diagnosis of fetal lung maturity. I. Predictive accuracy of the 35 kD protein, the lecithin/sphingomyelin ratio, and phosphatidylglycerol. Am J Obstet Gynecol 158:531-535
23. Hallman M, Merritt TA, Akino T, Bry K (1991) Surfactant protein A, phosphatidylcholine, and surfactant inhibitors in epithelial lining fluid: correlation with surface activity, severity of RDS, and outcome of small premature infants. Am Rev Respir Dis 144:1376-1384
24. Hawgood S, Clements JA (1990) Pulmonary surfactant and its apoproteins. J Clin Invest 86:1-6
25. Hoover RR, Floros J (1999) SP-A 3′-UTR is involved in the glucocorticoid inhibition of human SP-A gene expression. Am J Physiol 276:L917-L924
26. Ikegami M, Korfhagen TR, Whitsett JA, Bruno MD, Wert SE, Wada K, Jobe AH (1998) Characteristics of surfactant from SP-A-deficient mice. Am J Physiol 275:L247-L254
27. Jobe AH (1994) Surfactant function and metabolism. In: Boynton BB, Carlo WA, Jobe AH (eds) New therapies for neonatal respiratory disease. Cambridge University Press, New York, pp 16-35
28. 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
29. Karinch AM, deMello DE, Floros J (1997) Effect of genotype on the levels of surfactant protein-A mRNA and on the SP-A2 splice variants in adult humans. Biochem J 321:39-47
30. Karinch AM, Floros J (1995) 5′ splicing and allelic variants of the human pulmonary surfactant protein A genes. Am J Respir Cell Mol Biol 12:77-88
31. Korfhagen TR, Bruno MD, Ross GF, Huelsman KM, Ikegami M, Jobe AH, Wert SE, et al (1996) Altered surfactant function and structure in SP-A gene targeted mice. Proc Natl Acad Sci USA 93:9594-9599
32. Lankenau HM (1976) A genetic and statistical study of the respiratory distress syndrome. Eur J Pediatr 123:167-177
33. 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
34. Merritt TA, Soll RF, Hallman M (1993) Overview of exogenous surfactant replacement therapy. J Intensive Care Med 8:205-228
35. 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
36. Myrianthopoulos NC, Churchill JA, Baszynski AJ (1971) Respiratory distress syndrome in twins. Acta Genet Med Gemellol (Roma) 20:199-204
37. Nogee LM, Garnier G, Deitz 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 kindred. J Clin Invest 93:1860-1863
38. Olowe SA, Akinkugbe A (1978) Amniotic fluid lecithin/sphingomyelin ratio: comparison between an African and North American community. Pediatrics 62:38-41
39. Peltonen L, Pekkarinen P, Aaltonen J (1995) Messages from an isolate: lessons from the Finnish gene pool. Biol Chem Hoppe Seyler 376:697-704
40. Richardson DK, Torday JS (1994) Racial differences in predictive value of the lecithin/sphingomyelin ratio. Am J Obstet Gynecol 170:1273-1278
41. Tokieda K, Whitsett JA, Clark JC, Weaver TE, Ikeda K, McConnell KB, Jobe AH, et al (1997) Pulmonary dysfunction in neonatal SP-B-deficient mice. Am J Physiol 273: L875-L882
42. Veletza SV, Rogan PK, TenHave T, Olowe SA, Flores J (1996) Racial differences in allelic distribution at the human pulmonary surfactant protein B locus. Exp Lung Res 22:489-494
43. Venkitaraman AR, Hall SB, Whitsett JA, Hotter RH (1990) Enhancement of biophysical activity of lung surfactant extracts and phospholipid-apoprotein mixtures by surfactant protein A. Chem Phys Lipids 56:185-194
44. Voss T, Melchers K, Scheirle G, Schäfer KP (1991) Structural comparison of recombinant pulmonary surfactant protein SP-A derived from two human coding sequences: implications for the chain composition of natural human SP-A. Am J Respir Cell Mol Biol 4:88-94
45. Wang G, Phelps DS, Ustead TM, Floros J. Human SP-A protein variants derived from one or both genes stimulate TNF-α production in the THP-1 cell line. Am J Physiol Lung Cell Mol Physiol (in press)
46. Yukitake K, Brown CL, Schlueter MA, Clements JA, Hawgood S (1994) Surfactant apoprotein A modifies the inhibitory effect of plasma proteins on surfactant activity in vivo. Pediatr Res 37:21-25