Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients

Williams‐Beuren syndrome is considered to be at increased risk for celiac disease, as for recent literature data and celiac disease guidelines, despite pathogenic mechanisms are still unclear. Our study analyzed the prevalence of autoimmune disorders, HLA DQ2 and/or DQ8 haplotypes, of transglutamina...

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Published in:American journal of medical genetics. Part A 2023-01, Vol.191 (1), p.84-89
Main Authors: Ghisleni, Cecilia, Parma, Barbara, Cianci, Paola, De Paoli, Anita, Pangallo, Elisabetta, Agovino, Teresa, Cereda, Anna, Bedeschi, Maria Francesca, Villa, Roberta, Fossati, Chiara, Modena, Piergiorgio, Giudici, Carolina, Morando, Carla, Memo, Luigi, Onesimo, Roberta, Zampino, Giuseppe, Salvatore, Silvia, Agosti, Massimo, Selicorni, Angelo
Format: Article
Language:English
Subjects:
Adult
Autoimmune Diseases
Autoimmunity
Celiac disease
Celiac Disease - complications
Celiac Disease - epidemiology
Celiac Disease - genetics
Genetic Predisposition to Disease
Haplotypes
Histocompatibility antigen HLA
HLA DQ2
HLA DQ8
Humans
transglutaminase antibodies
Transglutaminases
Williams Syndrome - complications
Williams Syndrome - epidemiology
Williams Syndrome - genetics
Williams‐Beuren syndrome
Young Adult
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Summary:Williams‐Beuren syndrome is considered to be at increased risk for celiac disease, as for recent literature data and celiac disease guidelines, despite pathogenic mechanisms are still unclear. Our study analyzed the prevalence of autoimmune disorders, HLA DQ2 and/or DQ8 haplotypes, of transglutaminase antibodies and of diagnosis of celiac disease in a cohort of 93 Williams‐Beuren syndrome's patients (mean age 21.26 years). Our study showed an increased prevalence of celiac disease equal to 10.8% (10/93 patients). We did not find a significant different frequency of predisposing HLA in subjects with Williams‐Beuren syndrome compared to literature data in the general population (49.5% vs. 42.9%, with p > .1), nor a susceptibility to autoimmunity. This suggests that the increased prevalence of celiac disease in Williams‐Beuren syndrome cannot be ascribed to HLA haplotype and may be related to other factors that still need to be identified in these patients.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62990