Association between IgH enhancer hs1.2 and type 1 diabetes

作者：Cianci Rossella; D'Addabbo Pietro; Gambassi Giovanni; Lolli Serena; Serone Eliseo; Rizzi Alessandro; Pitocco Dario; Pandolfi Franco; Frezza Domenico^*

来源：ACTA DIABETOLOGICA, 2018, 55(5): 443-448.

DOI：10.1007/s00592-018-1103-5

• Enhancer hs1.2
• Type 1 diabetes
• Coeliac disease
• Immunoglobulins
• Non-HLA genes

To investigate the association of alleles of the 3' immunoglobulin heavy-chain regulatory region 1 (3'RR-1) enhancer hs1.2 in patients with type 1 diabetes (T1D).
Eighty-one patients with T1D [among which 12 had concomitant coeliac disease (CD) and 25 an autoimmune thyroid disease (AITD)] were compared to 248 healthy individuals. All subjects were recruited from the same geographical area. Blood samples were collected from all patients and a nested PCR was performed to amplify the core of the 3'RR-1 and detect the alleles of the hs1.2 enhancer.
Allele distribution in healthy individuals was significantly different when compared to that of patients with T1D (p < 0.01). Even greater differences were detected comparing allele distribution of patients with T1D alone versus those with concomitant CD, but not versus those with concomitant AITD. The frequency of *2 allele is increased by 23% in patients with T1D and CD.
The present study establishes that the multiallelic hs1.2 enhancer of the 3'RR-1 is associated with T1D, with higher frequency when there is co-occurrence of CD. This evidence has been previously observed in other immune diseases.

• 出版日期2018-5