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MHC2TA single nucle...
MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency
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- Ghaderi, Mehran (författare)
- Karolinska Institutet
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Gambelunghe, Giovanni (författare)
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Tortoioli, Cristina (författare)
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Brozzetti, Annalisa (författare)
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- Jatta, Ken (författare)
- Örebro universitet,Hälsoakademin
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Gharizadeh, Baback (författare)
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De Bellis, Annamaria (författare)
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Pecori Giraldi, Francesca (författare)
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Terzolo, Massimo (författare)
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Betterle, Corrado (författare)
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Falorni, Alberto (författare)
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(creator_code:org_t)
- The Endocrine Society, 2006
- 2006
- Engelska.
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 91:10, s. 4107-4111
- Relaterad länk:
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https://academic.oup...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
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- CONTEXT: The polymorphism of class II HLA genes modulates the genetic risk for several endocrine autoimmune diseases. The constitutive class II expression on antigen-presenting cells is under the control of the MHC class II transactivator, encoded by the MHC2TA gene, which is mapped to chromosome 16p13. The MHC2TA -168 A-->G single nucleotide polymorphism (rs3087456) has been suggested to confer susceptibility to some autoimmune diseases. DESIGN: With the aim of testing whether this MHC2TA single nucleotide polymorphism is independently associated with autoimmune Addison's disease (AAD) and/or modulates the genetic risk conferred by DRB1-DQA1-DQB1 haplotypes, we analyzed DNA samples from 128 AAD patients and 406 healthy control subjects from continental Italy. RESULTS: Frequency of allele G of MHC2TA was significantly increased among AAD patients (39% alleles), compared with 29% in healthy controls (P = 0.003). Similarly, the frequency of AG+GG genotypes was significantly higher among AAD patients than among healthy control subjects, in both a codominant (P = 0.012) and a G-dominant model (P = 0.018). Multivariate logistic regression analysis showed that MHC2TA AG+GG continued to be positively associated with genetic risk for AAD (P = 0.028, odds ratio = 1.72, 95% confidence interval = 1.06-2.78), after correction for DRB1*03-DQA1*0501-DQB1*0201, DRB1*04 (not 0403)-DQA1*0301-DQB1*0302 and DRB1*0403. Similar results were obtained when the number of G alleles was included in the model (P = 0.004; odds ratio = 1.65, 95% confidence interval = 1.17-2.32). CONCLUSIONS: Our study provides the first demonstration of the association of the polymorphism of the MHC2TA gene with genetic risk for AAD that appears to be independent from the well-known association with the polymorphism of HLA class II genes.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Nyckelord
- MEDICINE
- MEDICIN
- Endocrinology
- Endokrinologi
- Medicine
- Medicin
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- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Ghaderi, Mehran
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Gambelunghe, Gio ...
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Tortoioli, Crist ...
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Brozzetti, Annal ...
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Jatta, Ken
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Gharizadeh, Baba ...
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visa fler...
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De Bellis, Annam ...
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Pecori Giraldi, ...
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Terzolo, Massimo
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Betterle, Corrad ...
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Falorni, Alberto
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Endokrinologi oc ...
- Artiklar i publikationen
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Journal of Clini ...
- Av lärosätet
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Örebro universitet
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Karolinska Institutet