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A genome‐wide association study identifies an association between variants in EFCAB 4B gene and periodontal disease in an Italian isolated population
Author(s) -
Bevilacqua Lorenzo,
Navarra Chiara O.,
Pirastu Nicola,
Lenarda Roberto Di,
Gasparini Paolo,
Robino Antonietta
Publication year - 2018
Publication title -
journal of periodontal research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.31
H-Index - 83
eISSN - 1600-0765
pISSN - 0022-3484
DOI - 10.1111/jre.12598
Subject(s) - periodontitis , single nucleotide polymorphism , snp , chronic periodontitis , gingivitis , aggressive periodontitis , periodontology , confounding , genetic association , population , genetics , medicine , disease , biology , genotype , gene , dentistry , environmental health
Background and Objective Periodontitis in one of the most prevalent dental diseases. Despite numerous studies have investigated its aetiopathogenetic factors, few works have focused on its genetic predisposition and most of them took into account only candidate genes. Therefore, we conducted a Genome Wide Association Study in an Italian isolated population aimed at uncovering genetic variants that predispose to this disorder. Methods Diagnosis of chronic periodontitis was made following the criteria of the American Academy of Periodontology. Patients with chronic periodontitis were grouped into different categories: slight, severe, localized and generalized. A control group composed by people without signs of periodontitis or gingivitis was defined. DNA was genotyped using 370k Illumina chips. Linear mixed model regression was used to test the association between each single nucleotide polymorphism ( SNP ) (independent variable) and the periodontitis status (dependent variable), controlling for confounders sex, age and smoking. The genomic kinship matrix was also used as random effect. Results Four SNP s on the gene EFCAB 4B resulted significantly associated to localized periodontitis ( P < 5 × 10 −8 ), with the best hit on the rs242016 SNP ( P = 1.5 × 10 −8 ). Conclusion We have identified a novel significant association between the EFCAB 4B gene and localized periodontitis. These results open a new perspective in the understanding of genetic factors contributing to this common disorder.