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Human leucocyte antigens coeliac haplotypes and primary autoimmune hypophysitis in caucasian patients
Author(s) -
Chiloiro Sabrina,
Capoluongo Ettore D.,
Tartaglione Tommaso,
Bianchi Antonio,
Giampietro Antonella,
Angelini Flavia,
Arena Vincenzo,
Pontecorvi Alfredo,
De Marinis Laura
Publication year - 2018
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.13566
Subject(s) - haplotype , medicine , hla dq , genotype , gastroenterology , compound heterozygosity , human leukocyte antigen , heterozygote advantage , immunology , autoimmune disease , endocrinology , allele , antigen , disease , biology , genetics , gene
Summary 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 DR 7‐ DQ 2 heterozygote haplotype (55.5%) while the remaining ones only the following haplotypes: DR 3‐ DQ 2 homozygote (25%), DR 4‐ DQ 2 heterozygote (25%), DR 4‐ DQ 8 heterozygote (50%) and DR 4‐ DQ 8 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 DQ 2 and DQ 8 haplotypes. DQ 2 haplotype was detected in 50% of PAH and 38.4% of the control group ( P = .3), while DQ 8 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 DQ 8, may play a role in PAH management and diagnosis, also suggesting the predisposition to other autoimmune diseases.