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Periodontology"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> The single nucleotide polymorphism (SNP) context of a previously identified periodontitis\u2010associated locus is investigated, and its association with microbial, biologic, and periodontal disease clinical parameters is examined.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> A 200\u2010kb spanning region of 1q12 previously highlighted in a genome\u2010wide association scan among 4,766 European American individuals (SNP rs1633266) was annotated. Two haplotype blocks were selected. Association of these polymorphisms with data on microbial plaque composition, gingival crevicular fluid (GCF)\u2013interleukin (IL)\u20101\u03b2 levels, and clinical parameters of periodontal disease were examined. Descriptive analysis of IFI16 and AIM2 protein expression in gingival tissues from healthy individuals (n = 2) and individuals with chronic periodontitis (n = 2) was done via immunohistochemistry.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> The highlighted locus is a 100\u2010kb region containing the <jats:italic>interferon \u03b3\u2010inducible protein 16<\/jats:italic> (<jats:italic>IFI16<\/jats:italic>) and <jats:italic>absent in melanoma 2<\/jats:italic> (<jats:italic>AIM2<\/jats:italic>) genes. Two haplotype blocks, rs6940 and rs1057028, were significantly associated with increased extent bleeding on probing and levels of microorganisms <jats:italic>Porphyromonas gingivalis<\/jats:italic>, <jats:italic>Tannerella forsythia<\/jats:italic>, and <jats:italic>Campylobacter rectus<\/jats:italic> (<jats:italic>P<\/jats:italic> \u22640.05). Haplotype block rs1057028 was also significantly associated with pathogens <jats:italic>Fusobacterium nucleatum<\/jats:italic> and <jats:italic>Aggregatibacter actinomycetemcomitans<\/jats:italic>, increased GCF\u2013IL\u20101\u03b2 levels, and extent of probing depth \u22654 mm (<jats:italic>P<\/jats:italic> \u22640.05). Prevalence of severe periodontitis (biofilm\u2010gingival interface P3 classification) was positively associated with haplotype block rs1057028. Similar trends were observed for haplotype block rs1057028. IFI16 and AIM2 protein expression was observed in multiple cell types of gingival tissues, including inflammatory cells.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> This study found <jats:italic>IFI16<\/jats:italic> and <jats:italic>AIM2<\/jats:italic> SNPs associated with higher levels of periodontal microorganisms and an increased percentage of periodontal disease clinical parameters, suggesting the need for functional studies and additional fine\u2010mapping of variants in the 1q12\u2010locus.<\/jats:p>","DOI":"10.1902\/jop.2017.160553","type":"journal-article","created":{"date-parts":[[2017,4,7]],"date-time":"2017-04-07T11:43:53Z","timestamp":1491565433000},"page":"663-672","source":"Crossref","is-referenced-by-count":35,"title":["Common Polymorphisms in <i>IFI16<\/i> and <i>AIM2<\/i> Genes Are Associated With Periodontal Disease"],"prefix":"10.1002","volume":"88","author":[{"given":"Julie 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