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

BMC Medical Genetics Volume 15 Page 4- published_at 2014-01-08
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Title ( eng )
Differences in serum SP-D levels between German and Japanese subjects are associated with SFTPD gene polymorphisms
Creator
Ishikawa Nobuhisa
Tanaka Sonosuke
Bonella Francesco
Guzman Josune
Costabel Ulrich
Source Title
BMC Medical Genetics
Volume 15
Start Page 4
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.
Keywords
Biological marker
Idiopathic interstitial pneumonia
Single nucleotide polymorphism
Surfactant protein-A (SP-A)
Surfactant protein-D (SP-D)
Descriptions
This work was supported by Grants-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan and Arbeitsgemeinschaft zur Förderung der Pneumologie an der Ruhrlandklinik (AFPR).
Language
eng
Resource Type journal article
Publisher
BMC
Date of Issued 2014-01-08
Rights
© 2014 Horimasu et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Publish Type Version of Record
Access Rights open access
Source Identifier
[ISSN] 1471-2350
[DOI] 10.1186/1471-2350-15-4
[PMID] 24400879
[DOI] https://doi.org/10.1186/1471-2350-15-4