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Zoekopdracht: faculteit: "ACTA" en publicatiejaar: "2009"

AuteursA.S. Schaefer, G.M. Richter, M. Nothnagel, M.L. Laine, A. Rühling, C. Schäfer, N. Cordes, B. Noack, M. Folwaczny, J. Glas, C. Dörfer, H. Dommisch, B. Groessner-Schreiber, S. Jepsen, B.G. Loos, S. Schreiber
TitelA 3 ' UTR transition within DEFB1 is associated with chronic and aggressive periodontitis
TijdschriftGenes and Immunity
SamenvattingPeriodontal diseases are complex inflammatory diseases and affect up to 20% of the worldwide population. An unbalanced reaction of the immune system toward microbial pathogens is considered as the key factor in the development of periodontitis. Defensins have a strong antimicrobial function and are important contributors of the immune system toward maintaining health. Here, we present the first systematic association study of DEFB1. Using a haplotype-tagging single nucleotide polymorphism (SNP) approach, including described promoter SNPs of DEFB1, we investigated the associations of the selected variants in a large population (N=1337 cases and 2887 ethnically matched controls). The 3′ untranslated region SNP, rs1047031, showed the most significant association signal for homozygous carriers of the rare A allele (P=0.002) with an increased genetic risk of 1.3 (95% confidence interval: 1.11–1.57). The association was consistent with the specific periodontitis forms: chronic periodontitis (odds ratio=2.2 (95% confidence interval: 1.16–4.35), P=0.02), and aggressive periodontitis (odds ratio=1.3 (95% confidence interval 1.04–1.68), P=0.02). Sequencing of regulatory and exonic regions of DEFB1 identified no other associated variant, pointing toward rs1047031 as likely being the causative variant. Prediction of microRNA targets identified a potential microRNA-binding site at the position of rs1047031.
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