Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.7/251
Título: Non-HLA autoimmunity genetic factors contributing to Autoimmune Polyglandular Syndrome type II in Tunisian patients
Autor: Fourati, Hajer
Bouzid, Dorra
Abida, Olfa
Kharrat, Najla
Mnif, Fatma
Haddouk, Samy
Fesel, Constantin
Costa, João
Ayed, Mourad Ben
Abid, Mohamed
Rebai, Ahmed
Penha-Gonçalves, Carlos
Masmoudi, Hatem
Data: 2012
Citação: Fourati, Hajer; Bouzid, Dorra; Abida, Olfa; Kharrat, Najla; Mnif, Fatma; Haddouk, Samy; Fesel, Constantin; Costa, João; Ayed, Mourad Ben; Abid, Mohamed; Rebai, Ahmed; Penha-Gonçalves, Carlos; Masmoudi, Hatem. (2012).Non-HLA autoimmunity genetic factors contributing to Autoimmune Polyglandular Syndrome type II in Tunisian patients, Human Immunology, 73, 7, 740-746.
Resumo: Autoimmune Polyglandular Syndrome Type II (APSII) is characterized by the co-occurrence of clinical insufficiency of at least two endocrine glands. Although, HLA determinants of APSII predisposition have been identified, little attention has been paid to non-HLA genes. Here, we used SNP genotyping in a Sequenom platform and genetic association tests to study a cohort of 60 APSII Tunisian patients presenting highly frequent co-occurrence of Autoimmune Thyroid Disease (AITD) and Type 1 Diabetes (T1D) and lower frequency of Addison's disease (AD). We tested the high a priori possibility that well-established non-HLA autoimmunity loci were involved in APSII and confirmed five association signals to APSII, namely: (1) two T1D-associated SNPs, in CTLA4 and IL2RA, suggest their involvement in T1D pathogenesis in this cohort; (2) two SNPs in STAT4 and IL15 not previously associated to endocrinopathies, are possibly involved in co-occurrence of organ autoimmunity in APSII, and; (3) one SNP in TNF alpha showed association to APSII irrespective of AD. While this work was performed in a relatively small cohort, these results support the notion that the non-HLA genetic component of APSII include genetic factors specific of particular autoimmune manifestations as well as genetic factors that promote the co-occurrence of multiple autoimmune endocrinopathies.
URI: http://hdl.handle.net/10400.7/251
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