rs11993287 - EPPK1 - PLEC

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association study of stage III/IV grade C periodontitis (former aggressive periodontitis) in a Spanish population. - Journal of clinical periodontology (2021) · de Coo A, Cruz R, Quintela I, Herrera D, Sanz M, Diz P, Rodríguez Grandío S, Vallcorba N, Ramos I, Oteo A, Serrano C, Esmatges A, Enrile F, Mateos L, García R, Álvarez-Novoa P, Noguerol B, Zabalegui I, Blanco-Moreno J, Alonso Á, Lorenzo R, Carracedo A, Blanco J · PubMed 33745150

  To identify loci associated with stages III/IV, grade C periodontitis (PIII/IV-C) through a genome-wide association study (GWAS). 441 Caucasian Spanish PIII/IV-C cases from the SEPA Network of Research Clinics and 1141 controls from the Banco Nacional de ADN were genotyped with "Axiom Spain Biobank Array," which contains 757836 markers, including rare and low-frequency Spanish variants. The analysis of the individual association and subsequently the gene-level analysis with Sequence Kernel Association Test (SKAT) were carried out adjusting for age, sex and PC1 covariates. Pathway Analysis was additionally performed with Ingenuity Pathway Analysis (IPA) software on the top associated genes. In the individual analyses, no genome-wide significant signals were detected. However, 8 SNPs of 8 lo

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