[beta]-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients

• Published in: Journal of oral pathology & medicine Vol. 46; no. 5; pp. 393 - 397
• Main Authors: Incani, Federica, Cossu, Carla, Meloni, Alessandra, Faa, Valeria, Serra, Maria Luisa, Dettori, Federico, Meloni, Antonella, Rosatelli, Maria Cristina
• Format: Journal Article
• Language: English
• Published: Copenhagen Wiley Subscription Services, Inc 01-05-2017
• Subjects: Candida albicans; Candidiasis; Chronic mucocutaneous candidiasis; Copy number; Statistical analysis
• ISSN: 0904-2512; 1600-0714
• DOI: 10.1111/jop.12506

Objective The aim of this study was to investigate whether a variation in the genomic copy number (CNV) of the [beta]-defensin cluster could be associated with the pre-disposition to chronic mucocutaneous candidiasis (CMC) in Sardinian APECED patients. Subjects and Methods The [beta]-defensin copy number variation was determined by MLPA analysis in 18 Sardinian APECED patients with CMC and in 21 Sardinian controls. Statistical analyses were performed with one-way ANOVA test. Results No statistically significant results were observed between the patients and controls groups. Conclusions According to the results we have obtained, it appears that either [beta]-defensin genomic CNV is not a modifier locus for CMC susceptibility in APECED patients, or any effect is too small for it to be detected using such sample size. An extensive study on APECED patients from different geographical areas might reveal the real implication of the [beta]-defensin CNV in the susceptibility to Candida albicans infections.