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




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BMC Medical Genetics

, 15:4

First Online: 08 January 2014Received: 01 August 2013Accepted: 06 January 2014

Abstract

BackgroundSurfactant 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.

MethodsGerman 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.

ResultsIn 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.

ConclusionsIn 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.

KeywordsBiological marker Idiopathic interstitial pneumonia Single nucleotide polymorphism Surfactant protein-A SP-A Surfactant protein-D SP-D AbbreviationsIIPIdiopathic interstitial pneumonia

SP-ASurfactant protein A

SP-DSurfactant protein D

ILDInterstitial lung disease

KL-6Krebs von den Lungen 6

MUC1Mucin 1

SFTPDSurfactant protein D

SNPSingle nucleotide polymorphism

HSHealthy subjects

ATSAmerican Thoracic Society

ERSEuropean Respiratory Society

COPDChronic obstructive pulmonary disease

FVCForced vital capacity

FEV1Forced expiratory volume in one second

DLCOSingle-breath diffusing capacity of the lung for carbon monoxide

ELISAEnzyme-linked immunosorbent assay

ROCReceiver operating characteristic

AUCArea under the curve

CIConfidence interval

NTDN-terminal domain

CRDCarbohydrate recognition domain.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2350-15-4 contains supplementary material, which is available to authorized users.

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Author: Yasushi Horimasu - Noboru Hattori - Nobuhisa Ishikawa - Sonosuke Tanaka - Francesco Bonella - Shinichiro Ohshimo - Josune G

Source: https://link.springer.com/







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