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
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Creator |
Ishikawa Nobuhisa
Tanaka Sonosuke
Bonella Francesco
Guzman Josune
Costabel Ulrich
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Source Title |
BMC Medical Genetics
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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)
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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).
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Language |
eng
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Resource Type | journal article |
Publisher |
BMC
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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.
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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
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