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Endocrine Abstracts (2018) 56 P1084 | DOI: 10.1530/endoabs.56.P1084

ECE2018 Poster Presentations: Thyroid Thyroid (non-cancer) (105 abstracts)

Clinical and genetic study of autoimmun thyroid disease in a Tunisian multigenerational family

Noura Elleuch 1 , Dorra Ghorbel 2 , Faten Hadjkacem 3 , Mouna Elleuch 3 , Marwa Chiboub 2 , Salwa Sessi 3 , Mouna Mnif 3 & Mohamed Abid 3

Autoimmune thyroid diseases (AITD), which include Hashimoto thyroiditis (HT), Graves’ disease (GD) and primary idiopathicmyxoedema (PIM), are recognized by their clinical and genetic heterogeneity. In this study, we have carried on a global approach gathering 20 year genetic and clinical data on a Tunisian multigenerational family (Akr). Our purpose was search for a combined genotype involved in AITD susceptibility using 33 gene polymorphisms. The Akr pedigree is composed of more than 400 members distributed on 10 generations. Clinical follow-upwas performed by appreciation of the thyroid gland and measurement of both thyroid hormone and auto antibody levels. We used FBAT software to test for association between gene polymorphisms and AITDs. Clinical follow-up has showed that the number of AITD patients has increased from25 to 78 subjects subdivided on 51 cases of GD, 22 PIM and 5 HT. Concerning genetic analysis, our study has revealed new gene association when compared with our previous analysis (considering single genes). Thus, PTPN22, TG and VDR gene polymorphisms have became associated with p-values ranging from4.6 10−2 to 4 10−3 when consideredwith other genes on the same chromosome; giving evidence for gene interaction. The most significant association was found with the MHC region (p7.15 10−4). Moreover, and among gene polymorphisms explored, our analysis has identified some of them as AITD biomarkers. Indeed, PDS gene polymorphisms were associated with either exophthalmia or goiter (p-values from 10−2 to 10−3). In conclusion, our study gives evidence for gene interaction in AITD development confirming genetic complexity of these diseases.

Volume 56

20th European Congress of Endocrinology

Barcelona, Spain
19 May 2018 - 22 May 2018

European Society of Endocrinology 

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