Abstract
Objective and design
Immunity-regulated GTPase M (IRGM) plays a critical role in the defense against intracellular bacteria by regulating autophagy formation. This direct genetic association study aimed to determine whether variants at the IRGM genetic locus are associated with chronic periodontitis.
Materials and subjects
Using PCR and melting curve analysis 390 periodontitis patients and 770 healthy controls have been genotyped regarding six polymorphisms in the IRGM gene (rs13361189, rs10065172, rs4958847, rs1000113, rs11747270, rs931058).
Results
Frequency distribution of alleles and genotypes for the six polymorphisms were not significantly different between the periodontitis and the control group. Also following stratification according to gender and smoking no significant linkage was found for any of the IRGM variants with periodontitis. Analysis of a subsample of patients revealed a significant association for rs11747270 with severe periodontitis (p = 0.003). Pairwise linkage analysis revealed one block composed of rs13361189, rs10065172, rs4958847, rs1000113 and 11747270 with strong or even complete linkage disequilibrium (r 2 > 0.9). Four haplotypes showed a frequency of > 1%, among which the haplotype C-T-A-T-G was significantly associated with chronic periodontitis (p = 0.0051; OR 4.66, 95% CI 1.41–15.42).
Conclusions
One rare haplotype of the IRGM locus is significantly associated with chronic periodontitis in a German cohort.
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This article contains parts of the doctoral thesis of E. Tsekeri.
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Folwaczny, M., Tsekeri, E. & Glas, J. A haplotypic variant at the IRGM locus and rs11747270 are related to the susceptibility for chronic periodontitis. Inflamm. Res. 67, 129–138 (2018). https://doi.org/10.1007/s00011-017-1101-z
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DOI: https://doi.org/10.1007/s00011-017-1101-z