Association between IgH enhancer hs1.2 and type 1 diabetes
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.
KeywordsEnhancer hs1.2 Type 1 diabetes Coeliac disease Immunoglobulins Non-HLA genes
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
The study was performed according to the ethical principles of the Helsinki Declaration of 1964, revised by the World Medical Organization in Edinburgh in 2000 and 2008 and was approved by the ethics committee of our hospital.
All participants provided written informed consent before the enrollment in the study.