Title |
Association between IgH enhancer hs1.2 and type 1 diabetes
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Published in |
Acta Diabetologica, February 2018
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DOI | 10.1007/s00592-018-1103-5 |
Pubmed ID | |
Authors |
Rossella Cianci, Pietro D’Addabbo, Giovanni Gambassi, Serena Lolli, Eliseo Serone, Alessandro Rizzi, Dario Pitocco, Franco Pandolfi, Domenico Frezza |
Abstract |
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. |
X Demographics
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United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 12 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 3 | 25% |
Other | 2 | 17% |
Researcher | 2 | 17% |
Student > Doctoral Student | 1 | 8% |
Lecturer | 1 | 8% |
Other | 2 | 17% |
Unknown | 1 | 8% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 4 | 33% |
Biochemistry, Genetics and Molecular Biology | 2 | 17% |
Agricultural and Biological Sciences | 2 | 17% |
Nursing and Health Professions | 1 | 8% |
Unknown | 3 | 25% |