Polymorphism analysis of the ABCA3 gene: Association with neonatal respiratory distress syndrome in preterm infants

Chinese Medical Journal

Volumn 125, Issue 9, 2012, Pages 1594-1598

  Jiang, Lin ^a   Wu, Yi Dong ^a   Xu, Xue Feng ^a   Du, Li Zhong ^a  

^a ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Adenosine triphosphate binding cassette transporter A3; Minor allele frequency; Respiratory distress syndrome; Single nucleotide polymorphisms

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A3; UNCLASSIFIED DRUG;

ABCA3 GENE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; PREMATURITY; SINGLE NUCLEOTIDE POLYMORPHISM;

ATP-BINDING CASSETTE TRANSPORTERS; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; INFANT, NEWBORN; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RESPIRATORY DISTRESS SYNDROME, NEWBORN;

EID: 84863188658     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2012.09.013     Document Type: Article

References (17)

1. Kaminski WE, Piehler A, Wenzel JJ. ABC A-subfamily transporters: Structure, function and disease. Biochim Biophys Acta 2006; 1762: 510-524.
2. Bullard JE, Wert SE, Nogee LM. Abca3 deficiency: Neonatal respiratory failure and interstitial lung disease. Semin Perinatol 2006; 30: 327-334.
3. Stahlman MT, Besnard V, Wert SE, Weaver TE, Dingle S, Xu Y, et al. Expression of ABCA3 in developing lung and other tissues. J Histochem Cytochem 2007; 55: 71-83.
4. Hallman M. Lung surfactant, respiratory failure, and genes. N Engl J Med 2004; 350: 1278-1280.
5. Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 2004; 350: 1296-1303.
6. Cheong N, Zhang H, Madesh M, Zhao M, Yu K, Dodia C, et al. ABCA3 is critical for lamellar body biogenesis in vivo. J Biol Chem 2007; 282: 23811-23817.
7. Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, et al. Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res 2006; 59: 801-805.
8. Brasch F, Schimanski S, Muhlfeld C, Barlage S, Langmann T, Aslanidis C, et al. Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med 2006; 174: 571-580.
9. Karjalainen MK, Haataja R, Hallman M. Haplotype analysis of ABCA3: Association with respiratory distress in very premature infants. Ann Med 2008; 40: 56-65.
10. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-265.
11. Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, et al. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res 2008; 63: 645-649.
12. Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 2004; 74: 106-120.
13. Mulugeta S, Gray JM, Notarfrancesco KL, Gonzales LW, Koval M, Feinstein SI, et al. Identification of lbm180, a lamellar body limiting membrane protein of alveolar type ii cells, as the abc transporter protein ABCA3. J Biol Chem 2002; 277: 22147-22155.
14. Matsumura Y, Ban N, Ueda K, Inagaki N. Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J Biol Chem 2006; 281: 34503-34514.
15. Saugstad OD, Hansen TW, Ronnestad A, Nakstad B, Tollofsrud PA, Reinholt F, et al. Novel mutations in the gene encoding ATP binding cassette protein member a3 (ABCA3) resulting in fatal neonatal lung disease. Acta Paediatr 2007; 96: 185-190.
16. Morton NE, Collins A. Tests and estimates of allelic association in complex inheritance. Proc Natl Acad Sci U S A 1998; 95: 11389-11393.
17. Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, et al. A "silent" polymorphism in the mdr1 gene changes substrate specificity. Science 2007; 315: 525-528.