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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2014

Open Access 01-12-2014 | Research article

Differences in serum SP-D levels between German and Japanese subjects are associated with SFTPDgene polymorphisms

Authors: Yasushi Horimasu, Noboru Hattori, Nobuhisa Ishikawa, Sonosuke Tanaka, Francesco Bonella, Shinichiro Ohshimo, Josune Guzman, Ulrich Costabel, Nobuoki Kohno

Published in: BMC Medical Genetics | Issue 1/2014

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Abstract

Background

Surfactant protein A (SP-A) and SP-D are clinically established in Japan as serum biomarkers for diagnosing interstitial lung diseases (ILDs). Serum SP-D levels are affected by genetic variants. We conducted the present study to examine whether serum SP-A and/or SP-D levels in healthy subjects (HS) and patients with ILDs differ between populations with different genetic backgrounds.

Methods

German subjects (n = 303; 138 patients with idiopathic interstitial pneumonias [IIPs] and 165 HS) and Japanese subjects (n = 369; 94 patients with IIPs and 275 HS) were enrolled. Serum SP-A and SP-D levels were measured using an enzyme-linked immunosorbent assay, and four single-nucleotide polymorphisms (SNPs) in the SFTPD gene were genotyped using genomic DNA extracted from blood samples.

Results

In both the German and Japanese cohorts, serum SP-A and SP-D levels were significantly higher in patients with IIPs than in HS. There were no significant differences in SP-A levels between the German and Japanese cohorts; however, we found that serum SP-D levels were significantly higher in the German cohort, both in patients with IIPs and in HS (p < 0.001 and p = 0.005, respectively). Furthermore, the genotype distributions of the four SNPs in the SFTPD gene (rs721917, rs1998374, rs2243639, and rs3088308) were significantly different between German and Japanese cohorts (p < 0.001, p < 0.001, p = 0.022, and p < 0.001, respectively), and univariate linear regression analyses revealed that the genotypes of rs721917, rs1998374, and rs2243639 significantly correlated with serum SP-D levels (p < 0.001, p < 0.001, and p = 0.011, respectively). Furthermore, multivariate analyses revealed that the genotypes of these three SNPs correlated independently with serum SP-D levels (p < 0.001, p = 0.001, and p = 0.038, respectively), whereas ethnicity did not significantly correlate with serum SP-D levels.

Conclusions

In patients with IIPs and HS, serum SP-D, but not SP-A, levels were significantly higher in the German than in the Japanese cohort, in part, because of the different frequencies of SFTPD gene polymorphisms.
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Metadata
Title
Differences in serum SP-D levels between German and Japanese subjects are associated with SFTPDgene polymorphisms
Authors
Yasushi Horimasu
Noboru Hattori
Nobuhisa Ishikawa
Sonosuke Tanaka
Francesco Bonella
Shinichiro Ohshimo
Josune Guzman
Ulrich Costabel
Nobuoki Kohno
Publication date
01-12-2014
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2014
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-15-4

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