C reactive protein and alpha1-antitrypsin: Relationship between levels and gene variants

Stefania Ottaviani, Marina Gorrini, Roberta Scabini, Zamir Kadija, Elena Paracchini, Francesca Mariani, Ilaria Ferrarotti, Maurizio Luisetti

Research output: Contribution to journalArticle

Abstract

The first step in laboratory diagnosis of alpha1-antitrypsin deficiency (AATD) is the determination of alpha1-antitrypsin (AAT) serum levels; these levels in turn are influenced by the inflammatory status. C reactive protein (CRP) has been proposed as a marker of systemic inflammation. Single nucleotide polymorphisms (SNPs) in the CRP gene have been associated with differences in baseline CRP levels. The purpose of this study was to investigate the relationship between CRP and AAT in the AATD diagnostic setting and to verify whether variations in the CRP gene could influence CRP. We determined AAT and CRP levels in 362 consecutive dried blood spot (DBS) samples submitted for AATD diagnosis and genotyped 3 CRP gene SNPs (rs1205, rs3093077, and rs3091244) associated with variations in serum CRP concentrations. To this aim, we developed a method to measure CRP in a DBS with a good correlation with CRP measurement in serum (r2 = 0.9927). We showed then that systemic inflammatory status parallels increased levels of AAT (80% of subjects with intermediate AATD and a CRP > 0.8 mg/dL had an AAT level above the cut-off of 113 mg/dL) and that this increase might mask the presence of AATD variants. No association was detected between CRP levels and the 3 CRP gene polymorphisms. Simultaneous determination of CRP and AAT is useful in the correct diagnosis of heterozygotes carrying intermediate AATD genotypes; their genetic influence on the CRP level is negligible.

Original languageEnglish
Pages (from-to)332-338
Number of pages7
JournalTranslational Research
Volume157
Issue number6
DOIs
Publication statusPublished - Jun 2011

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C-Reactive Protein
Genes
Polymorphism
Single Nucleotide Polymorphism
Blood
Nucleotides
Clinical Laboratory Techniques
Heterozygote
Masks
Serum
Blood Proteins

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, medical
  • Public Health, Environmental and Occupational Health

Cite this

C reactive protein and alpha1-antitrypsin : Relationship between levels and gene variants. / Ottaviani, Stefania; Gorrini, Marina; Scabini, Roberta; Kadija, Zamir; Paracchini, Elena; Mariani, Francesca; Ferrarotti, Ilaria; Luisetti, Maurizio.

In: Translational Research, Vol. 157, No. 6, 06.2011, p. 332-338.

Research output: Contribution to journalArticle

Ottaviani, Stefania ; Gorrini, Marina ; Scabini, Roberta ; Kadija, Zamir ; Paracchini, Elena ; Mariani, Francesca ; Ferrarotti, Ilaria ; Luisetti, Maurizio. / C reactive protein and alpha1-antitrypsin : Relationship between levels and gene variants. In: Translational Research. 2011 ; Vol. 157, No. 6. pp. 332-338.
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