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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
A polymorphism of the interleukin-6 gene promoter and idiopathic recurrent miscarriage
G Unfried1, S Böcskör, G Endler
1Department of Gynecologic Endocrinology, University of Vienna School of Medicine, Vienna, Austria. gertrud.unfried@akh-wien.ac.at
Background:
Cytokines have been described to play a major role in the pathogenesis of idiopathic recurrent miscarriage (IRM). We investigated the association between IRM and a polymorphism of the interleukin-6 (IL-6) gene and IL-6 serum levels.
Methods:
In a prospective case-control study, we studied 161 women with IRM and 124 healthy controls. Peripheral venous puncture, DNA extraction and PCR were employed to genotype women for the presence of a polymorphism at position -174 in the promoter region of IL-6. Serum IL-6 levels were assessed by a commercially available ELISA.
Results:
Allele frequencies among women with IRM and controls were 63.4 and 58.1% respectively for allele G (wild type), and 36.6 and 41.9% respectively for allele C (mutant). No association between allele C and the occurrence of IRM was found (odds ratio 0.8; 95% confidence interval = 0.57-1.12; P = NS). IL-6 serum levels were not significantly different between genotypes and between the study and control groups.
Conclusions:
This is the first report on an IL-6 polymorphism in IRM. Although known to alter IL-6 expression, the IL-6 polymorphism investigated was not associated with IRM and alterations in IL-6 serum levels in a Middle-European Caucasian population.
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