Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease

Rheumatology

Volumn 47, Issue 3, 2008, Pages 289-291

  Sumita, Y ^a   Sugiura, T ^b   Kawaguchi, Y ^b   Baba, S ^b   Soejima, M ^b   Murakawa, Y ^a   Hara, M ^b   Kamatani, N ^b  

^a SHIMANE UNIVERSITY   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Genetic polymorphism; Interstitial lung disease; Surfactant protein; Systemic sclerosis

Indexed keywords

CENTROMERE ANTIBODY; SCL 70 ANTIBODY; SURFACTANT ASSOCIATED PROTEIN; SURFACTANT PROTEIN A; SURFACTANT PROTEIN A1; SURFACTANT PROTEIN B; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; FEMALE; FIBROSIS; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HETEROZYGOTE; HUMAN; INTERSTITIAL LUNG DISEASE; JAPAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PRIORITY JOURNAL; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC SCLEROSIS;

ADULT; CASE-CONTROL STUDIES; CONFIDENCE INTERVALS; FEMALE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; JAPAN; LUNG DISEASES, INTERSTITIAL; MALE; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, GENETIC; PROBABILITY; PULMONARY SURFACTANT-ASSOCIATED PROTEIN B; REFERENCE VALUES; RISK ASSESSMENT; SCLERODERMA, SYSTEMIC; SENSITIVITY AND SPECIFICITY;

EID: 39449107204     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kem355     Document Type: Article

References (20)

1. LeRoy EC, Medsger TA, Jr. Criteria for the classification of early systemic sclerosis. J Rheumatol 2001;28:1573-6.
2. Latsi PI, Wells AU. Evaluation and management of alveolitis and interstitial lung disease in scleroderma. Curr Opin Rheumatol 2003;15:748-55.
3. Reveille JD, Solomon DH. Evidence-based guidelines for the use of immunologic tests: Anticentromere, Scl-70, and nucleolar antibodies. Arthritis Rheumatol 2003;49: 399-412.
4. Phelps DS. Surfactant regulation of host defense function in the lung: A question of balance. Pediatr Pathol Mol Med 2001;20:269-92.
5. Nogee LM, Garnier G, Dietz HC et al. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest 1994;93:1860-3.
6. DiAngelo S, Lin Z, Wang G 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.
7. Lin Z, Pearson C, Chinchilli V et al. Polymorphisms of human SP-A, SP-B, and SP-D genes: Association of SP-B Thr131lle with ARDS. Clin Genet 2000;58:181-91.
8. Selman M, Lin HM, Montano M et al. Surfactant protein A and B genetic variants predispose to idiopatnic pulmonary fibrosis. Hum Genet 2003;113:542-50.
9. Subcommittee for Scleroderma Criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee. Preliminary criteria for the classification of systemic sclerosis (scleroderma). Arthritis Rheumatol 1980;23: 581-90.
10. McNearney TA, Reveille JD, Fischbach M et al. Pulmonary Involvement in systemic sclerosis: Associations with genetic, serologic, sociodemographic, and behavioral factors. Arthritis Rheumatol 2007;57:318-26.
11. Kawaguchi Y, Tochimoto A, Ichikawa N et al. Association of IL1A gene polymorphisms with susceptibility to and severity of systemic sclerosis in the Japanese population. Arthritis Rheumatol 2003;48:186-92.
12. Beretta L, Bertolotti F, Cappiello F et al. Interleukin-1 gene complex polymorphisms in systemic sclerosis patients with severe restrictive lung physiology. Hum Immunol 2007;68:603-9.
13. 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.
14. Raychaudhuri B, Abraham S, Bonfield TL et al. Surfactant blocks lipopolysaccharide signaling by inhibiting both mitogen-activated protein and IkappaB kinases in human alveolar macrophages. Am J Respir Cell Moll Biol 2004;30: 228-32.
15. Hamilton RF, Jr, Parsley E, Holian A. Alveolar macrophages from systemic sclerosis patients: Evidence for IL-4-mediated phenotype changes. Am J Physiol Lung Cell Mol Physiol 2004;286:L1202-9.
16. Jacobs KA, Phelps DS, Steinbrink R et al. Isolation of a cDNA clone encoding a high molecular weight precursor to a 6-kDa pulmonary surfactant-associated protein. J Biol Chem 1987;262:9808-11.
17. Wang G, Christensen ND, Wigdahl B, Guttentag SH, Floros J. Differences in N-linked glycosylation between human surfactant protein-B variants of the C or T allele at the single-nucleotide polymorphism at position 1580: Implications for disease. Biochem J 2003;369:179-84.
18. Raleigh SM, Davies BM, Cleal D, Ribbans WJ. No association between coding polymorphism within exon 4 of the human surfactant protein B gene and pulmonary function in healthy men. J Physiol Sci 2007;57:199-202.
19. 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.
20. 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.