β-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients.
OBJECTIVE
The aim of this study was to investigate whether a variation in the genomic copy number (CNV) of the β-defensin cluster could be associated with the pre-disposition to chronic mucocutaneous candidiasis (CMC) in Sardinian APECED patients.


METHODS
The β-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 β-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 β-defensin CNV in the susceptibility to Candida albicans infections.
Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, Cagliari, Italy.
Federica
F
Incani
Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, Cagliari, Italy.
Carla
C
Cossu
Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, c/o Cittadella Universitaria di Monserrato, Cagliari, Italy.
Alessandra
A
Meloni
Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, c/o Cittadella Universitaria di Monserrato, Cagliari, Italy.
Valeria
V
Faà
Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, Cagliari, Italy.
Maria Luisa
ML
Serra
Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, Cagliari, Italy.
Federico
F
Dettori
Clinica pediatrica II, Ospedale Pediatrico Microcitemico 'Antonio Cao', Cagliari, Italy.
Antonella
A
Meloni
Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, Cagliari, Italy.
Maria Cristina
MC
Rosatelli
D000293:Adolescent; D000328:Adult; D002176:Candida albicans; D002178:Candidiasis, Chronic Mucocutaneous / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations / Q000235:genetics* / Q000502:physiology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics* / Q000382:microbiology; D023083:beta-Defensins / Q000235:genetics*
D023083:beta-Defensins

Candida
; oral mucosa; saliva