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Mol. Hum. Reprod. Advance Access originally published online on February 21, 2007
Molecular Human Reproduction 2007 13(4):243-250; doi:10.1093/molehr/gam002
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Association of interleukin-1ß and interleukin-1 receptor antagonist polymorphisms with bacterial vaginosis in non-pregnant Italian women

Sabina Cauci1,4, Manuela Di Santolo1, Giorgia Casabellata1, Kelli Ryckman2, Scott M. Williams2 and Secondo Guaschino3

1 Department of Biomedical Sciences and Technologies, School of Medicine, University of Udine, Udine, Italy 2 Center for Human Genetics Research, Vanderbilt University, Nashville, TN, USA 3 Obstetric and Gynecologic Unit, Department of Reproductive and Development Sciences, IRCCS Burlo Garofolo Hospital, School of Medicine, University of Trieste, Trieste, Italy

4 To whom correspondence should be addressed at: Dipartimento di Scienze e Tecnologie Biomediche, Facoltà di Medicina e Chirurgia, Piazzale Kolbe 4, 33100 Udine, Italy. Tel: +39 0432494312; Fax: +39 0432494301; E-mail: scauci{at}mail.dstb.uniud.it

Bacterial vaginosis (BV) is the most prevalent alteration of vaginal microflora worldwide. BV is a polymicrobial disorder, and its etiology is elusive. Factors predisposing to this recurrent condition are not fully characterized. We aimed to investigate whether interleukin-1ß (IL-1ß) and IL-1 receptor antagonist (IL-1ra) polymorphisms are associated with BV in non-pregnant white Italian women. Genomic DNA was obtained from 164 BV positive, and 406 control women. Two diallelic polymorphisms in the IL-1ß gene (IL-1B) representing C/T base transitions at – 511 and + 3954 positions and a variable number tandem repeats (VNTR) in intron 2 of the IL-1ra gene (IL-1RN) were assessed. We demonstrated that women who were homozygous for – 511 CC or + 3954 TT of the IL-1B gene were at increased risk for BV with an odds ratio (OR) = 1.5 [95% confidence interval (CI) = 1.03–2.14, P = 0.032], and OR = 2.8 (95% CI = 1.37–5.88, P = 0.004), respectively. The haplotype – 511/ + 3954 T-C was protective for BV, with an OR = 0.7 (95% CI = 0.49–0.90, P = 0.009). The IL-1RN VNTR genotype was not associated with BV, although the rare allele 3 showed a trend towards protection (P = 0.049). These data show that host genetic variants at the IL-1ß locus predispose to BV among Caucasian non-pregnant women. Further studies will determine whether these genetic polymorphisms modulate the risk for BV recurrence, and/or BV associated severe adverse outcomes as preterm birth and human immunodeficiency virus transmission.

Key words: bacterial vaginosis/IL-1 gene polymorphisms/IL-1 haplotype/IL-1 receptor antagonist polymorphism/vaginal flora

Submitted on December 6, 2006; resubmitted on January 8, 2007; accepted on January 10, 2007.


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K.K. Ryckman, H.N. Simhan, M.A. Krohn, and S.M. Williams
Predicting risk of bacterial vaginosis: the role of race, smoking and corticotropin-releasing hormone-related genes
Mol. Hum. Reprod., February 1, 2009; 15(2): 131 - 137.
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