Baza projekata

Detalji projekta<< Pretraživanje

Naziv projekta:
Cjelogenomska analiza povezanosti Hashimotovog tiroiditisa

Voditelj:Vrsta natječaja:
Vesna BoraskaUspostavni istraživački projekti

Rok:Šifra:Akronim:Trajanje:Status:Vrijednost financiranja:
2013-114950HashimotoGWAS15.09.2014 - 14.01.20181.000.000,00 Kn

Znanstvena područja:
Biomedicina i zdravstvo

Znanstvena polja:
Temeljne medicinske znanosti

Sveučilište u Splitu, Medicinski fakultet

(Professor) Tatijana Zemunik, (Professor) Maja Barbalić, (Professor) Ante Punda, (Master's degree) Sanda Gračan, (Master's degree) ANA BARIĆ, (Doctor's degree) Vesela Torlak, (Doctor's degree) Stana Tokić, (Professor) Eleftheria Zeggini, (mag.math) Luka Brčić, (hrvatski) Ivana Gunjača, (Professor) Veselin Škrabić,

Ključne riječi:
Hashimoto thyroiditis, thyroid gland, genome-wide association analysis (GWAS), statistical genetics, single nucleotide polymorphism (SNP), biobank

Autoimmune thyroid diseases (AITD) are very common and affect 2-5% of the general population. The most frequent form of AITD is Hashimoto thyroiditis (HT) that is characterised by progressive destruction of thyroid tissue. Many studies tried to unravel genetic contribution to HT development in the past few decades but with low success. The breakthrough of the genome-wide association studies (GWAS) tremendously increased the rate of detecting novel associations. However, HT has been unrepresented in the GWAS mostly because of the lack of large cohorts of HT patients and the performance of such study is a matter of urgency. We plan to recruit 500 HT patients and to create a DNA/serum/plasma biobank of deeply phenotyped HT patients that will serve as a powerful resource for current and future investigations. The aim of this study is to identify genetic variants underlying HT by performing the first GWAS focusing on HT exclusively. We will use newly recruited HT patients and 500 existing controls (from the “10,000 Dalmatians” study) in case-control GWAS and validate observed associations in an independent replication cohort. To further help in elucidating genetic contribution to HT we will perform pathway analysis and gene-interaction analysis using variety of environmental factors and medical records that will be collected from HT patients. We will also perform deep phenotype characterisation of HT patients that may provide additional clues about HT aetiology. This is timely planned study that aims to generate new knowledge that will advance our understanding of the genetic basis and underlying biological mechanisms of HT. This knowledge will be crucial in guiding the development of new prevention, diagnostic and therapeutic methods. Other benefits of this project include promotion of collaboration, transfer of knowledge, building of infrastructure and it will help in establishment of independent research carrier of principal investigator.