Human leucocyte antigens coeliac haplotypes and primary autoimmune hypophysitis in caucasian patients

Sabrina Chiloiro, Tommaso Tartaglione, Alfredo Pontecorvi, Ettore Domenico Capoluongo, Antonio Bianchi, Antonella Giampietro, Flavia Angelini, Vincenzo Arena, Laura De Marinis Grasso

Risultato della ricerca: Contributo in rivistaArticolo in rivista

10 Citazioni (Scopus)


Purpose: Primary hypophysitis is a rare disease, with an autoimmune aetiology. As few papers have investigated genetic of hypophysitis, our aim was to evaluate HLA status in a single-centre series of patients. Patients and method: A retrospective, longitudinal and cross-sectional study was conducted. In consecutive Caucasian patients, clinically or histologically diagnosed for primary autoimmune hypophysitis (PAH), the HLA genotype having been determined. This cohort was compared with a control group. Anti-pituitary and anti-hypothalamus auto-antibodies evaluation was included. Results: 16 patients were enrolled. Fourteen patients were female (87.5%). According to HLA-DR status, we found the following: 9 of 16 patients (56.3%) haplotypes that were associated with coeliac disease (CD). Among these, 5 carried the DR7-DQ2 heterozygote haplotype (55.5%) while the remaining ones only the following haplotypes: DR3-DQ2 homozygote (25%), DR4-DQ2 heterozygote (25%), DR4-DQ8 heterozygote (50%) and DR4-DQ8 homozygote (25%), respectively. A total of 12 CD-associated haplotypes were identified. In PAH, we found a significantly higher frequency of patients carrying CD-associated HLA haplotypes as compared to the control group (respectively, 75% vs 48% P=.03; OR: 3.25 95%IC:1.1-10.3), particularly, for DQ2 and DQ8 haplotypes. DQ2 haplotype was detected in 50% of PAH and 38.4% of the control group (P=.3), while DQ8 haplotype in 25% of PAH and 7.2% of the control group (P=.01 OR:4.3 95%IC:1.3-14.7). Conclusion: Our data suggest that PAH and CD share some HLA haplotypes, reinforcing the knowledge of their association. HLA haplotypes, particularly DQ8, may play a role in PAH management and diagnosis, also suggesting the predisposition to other autoimmune diseases.
Lingua originaleEnglish
pagine (da-a)692-699
Numero di pagine8
RivistaClinical Endocrinology
Stato di pubblicazionePubblicato - 2018


  • adenohypophysitis
  • coeliac disease
  • human leucocyte antigens
  • infundibulo-neuro-hypophysitis
  • panhypophysitis


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