ESPE Abstracts (2014) 82 P-D-1-1-231

The Association between rs4684677 T/A Polymorphism in Preproghrelin Gene And predisposition to Autoimmune Thyroid Diseases in Children

Artur Bosswskia, Anna Moniuszkob, Natalia Wawrusiewicz-Kurylonekc, Anna Bossowskad, Ewa Jakubowskaa & Adam Kretowskic


aDepartment of Pediatric Endocrinology, Diabetology with Cardiology Division, Medical University, Bialystok, Poland; bDepartment of Infectious Diseases and Neuroinfections,, Bialystok, Poland; cDepartment of Endocrinology and Diabetes with Internal Medicine, Bialystok, Poland; dDivision of Cardiology, Internal Affairs Ministry Hospital in Białystok, Bialystok, Poland


Background: Ghrelin and obestatin are two gastrointestinal peptides obtained by post-translational processing of a common precursor, preproghrelin. mRNA expression for preproghrelin was found in autoimmune thyroid diseases (AITDs) in previous studies. There are papers, where a role of preproghrelin polymorphism on various immunological diseases was determined, but nothing is known about its influence on the AITDs.

Objective and hypotheses: The aim of our study was to estimate the association of two polymorphism of preproghrelin gene with the predisposition to GD and HT in children.

Method: The study was performed in the group consisting of 98 patients with GD (mean age±SD, 17.3±6), 39 patients with HT (mean age±SD, 18±4.5) sequentially recruited from the endocrinology outpatient clinic. Control group consisted of 158 healthy subjects. DNA was extracted from the peripheral blood leukocytes using a classical salting out method. The two SNPs rs4684677 (C_3151003_20) and rs4684677 (C_25607748_10) in the preproghrelin gene were genotyped by TaqMan SNP genotyping assay using the real-time PCR method.

Results: In our study, rs4684677 T/A genotype was more frequent in patients with GD and HT (as one group) in comparison to healthy subjects (P=0.04) with OR=2.0 and 95% CI for OR: 1.02–4.5. We also observed rs4684677 T/A genotype to be more frequent in patients with HT in comparison to healthy subjects and patients with obesity and this difference was statistically significant (P=0.02) with OR=5.8 and 95% CI for OR: 1.2–139.4.

Conclusion: Rs 4684677 T/A polymorphism in preproghrelin gene could contribute to autoimmue thyroid diseases development in children and T allel is the main risk factor.

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