Genetic analysis of thyroid disorders

Genetic analysis of thyroid disorders

Our first goal is to identify genetic variants that are associated with HT through genome-wide association analysis.

Genetic analysis of thyroid disorders

 Laboratorij Genetska istraživanja bolesti šitnjače
Head of research group 
  
 Assoc. Prof Vesna Boraska Perica
 
Research
Hashimoto thyroiditis (HT) is the most common autoimmune disease and the most common endocrine disorder. It is characterized by chronic inflammation of the thyroid gland that may disrupt thyroid function and lead to hypothyroidism. Both, genetic and environmental factors, are thought to play a role in disease development and manifestation; however these factors have not been systematically investigated. Through several scientific projects our research is focused on investigation of genetic and environmental factors underlying HT. As part of the Croatian Foundation for Science Installation grant “Genome-wide association analysis of Hashimoto’s thyroiditis” we formed a biobank of biological samples from 500 patients with HT who were extensively phenotyped and genome-wide scanned. Our first goal is to identify genetic variants that are associated with HT through genome-wide association analysis. Our second goal is to identify environmental factors by systematic analysis of all measured phenotypes such as medical status, information on life-style, nutrition, biochemical parameters, antibodies to food antigens and antibodies to viral antigens.

Projects
Lead researcher: Vesna Boraska Perica
Funded by Croatian Science Foundation - HrZZ
Duration: sept 2014 - jan 2018

Analysis of immunologic response to food proteins in development of Hashimoto thyroiditis
Lead researcher: Vesna Boraska Perica
Funded by Foundation Adris 
Duration: nov 2016 - nov 2017
 
Group members
Assoc Prof Vesna Boraska Perica, PhD, lead researcher [CV]
Prof Tatijana Zemunik, PhD, associate - researcher [CV]
Assoc Prof Ante Punda, PhD, associate - researcher  [CV
Prof Veselin Škrabić, associate - researcher  [CV]
Assist Prof Maja Barbalić, PhD, associate - researcher  [CV]
Vesela Torlak, PhD, associate - researcher [CV]
Sanda Sladić, MSc, associate - researcher [CV]
Ana Barić, MSc, associate - researcher [CV]
Luka Brčić, MSc, doctoral student [CV]
Ivana Gunjača,  MSc, associate - researcher [CV]
Dean Kaličanin, MSc, associate - researcher [CV]
Jolanda Kunjašić, professional associate
Future directions
We plan to expand our sample collection and to continue our research of genetic and environmental factors on a larger set of genetic variants (obtained by exome/genome-wide sequencing) and by including additionally measured phenotypes form stored biological samples.
 

MENTORSHIP ON DOCTORAL THESIS:
2018.  PhD student Luka Brčić, mag. math, has defended doctoral thesis entitled „Hashimoto’s thyroiditis: discovery of genetic variants underlying disease development” on 18.12.2018. under mentorship of Assoc. Prof. Vesna Boraska Perica

MENTORSHIP ON DIPLOMA THESIS:
2017.  Student Iva Anić has defended doctoral thesis entitled „Phenotipic characterisation of patients with Hashimoto’s thyroiditis” on 27.10.2017. under mentorship of Assoc. Prof. Vesna Boraska Perica

PRICES AND AWARDS:
Ana Barić, MD is the winner of prestigious National L'Oreal-UNÉSCO award
"For women in science" 2019. based of  the research "Analysis of clinical
characteristics and phenotypes of patients with Hashimoto's thyroiditis".

 
Ana Barić, dr. med.


SELECTED PUBLICATIONS:  [.pdf]

Brčić L, Barić A, Gračan S, Brekalo M, Kaličanin D, Gunjača I, Torlak Lovrić V, Tokić S, Radman M, Škrabić V, Miljković A, Kolčić I, Štefanić M, Glavaš-Obrovac Lj, Lessel D, Polašek O, Zemunik T, Barbalić M, Punda A, Boraska Perica V. Genome-wide association analysis suggests novel loci for Hashimoto’s thyroiditis. Journal of Endocrinological Investigation. 2018 Oct 3. doi: 10.1007/s40618-018-0955-4

Barić A, Brčić L, Gračan S, Škrabić V, Brekalo M, Šimunac M, Torlak Lovrić V, Anić I, Barbalić M, Zemunik T, PundaA, Boraska Perica V. Thyroglobulin antibodies are associated with symptom burden in patients with Hashimoto's thyroiditis: a cross-sectional study. Immunological investigations. 2018 Oct 17:1-12 doi: 10.1080/08820139.2018.1529040
 
Kaličanin D, Brčić L, Barić A, Zlodre S, Barbalić M, Torlak Lovrić V, Punda A, Boraska Perica V. Evaluation of correlations between food-specific antibodies and clinical aspects of Hashimoto´s thyroiditis. Journal of the American College of Nutrition. 2018 Sep 28:1-8 doi: 10.1080/07315724.2018.1503103.

Brčić L, Gračan S, Barić A, Gunjača I, Torlak Lovrić V, Kolčić I, Zemunik T, Polašek O, Barbalić M, Punda A, Boraska Perica V. Association of Established Thyroid-stimulating Hormone and Free Thyroxine Genetic Variants with Hashimoto's Thyroiditis. Immunol Invest. 2017 Aug;46(6):625-638. doi: 10.1080/08820139.2017.1337785.
 
Barić A, Brčić L, Gračan S, Torlak Lovrić V, Gunjača I, Šimunac M, Brekalo M, Boban M, Polašek O, Barbalić M, Zemunik T, Punda A, Boraska Perica V. Association of established hypothyroidism-associated genetic variants with Hashimoto's thyroiditis. J Endocrinol Invest. 2017 Apr 5. doi: 10.1007/s40618-017-0660-8
 
Brčić Luka, Barić Ana, Gračan Sanda, Brdar Dubravka, Torlak Lovrić Vesela, Vidan Nikolina, Zemunik Tatijana, Polašek Ozren, Barbalić Maja, Punda Ante, Boraska Perica Vesna. Association of established thyroid peroxidase autoantibody (TPOAb) genetic variants with Hashimoto's thyroiditis. Autoimmunity. 2016 Nov;49(7):480-485. Epub 2016 Jun 7.


CONFERENCE PRESENTATIONS:

Dean Kaličanin*, Luka Brčić, Ana Barić, Sanda Gračan, Marko Brekalo, Vesela Torlak Lovrić, Ivana Kolčić, Ozren Polašek, Tatijana Zemunik, Ante Punda, Vesna Boraska Perica. Food frequency questionnaire analysis in patients with Hashimoto's thyroiditis. 11th International Scientific and Professional Conference WITH FOOD TO HEALTH, Split, 18.-19.10. 2018. (short oral presentation)
 
Luka Brčić, Ana Barić, Marko Brekalo, Sanda Gračan, Veselin Škrabić, Dean Kaličanin, Ivana Novak, Tatijana Zemunik, Maja Barbalić, Ante Punda, Vesna Boraska Perica*. Apoptosis-antagonizing transcription factor AATF and chromatin-remodeling SMARCA2 are associated with thyroid volume in Hashimoto's thyroiditis patients. 4th Congress of Croatian Geneticists with international participation, Krk, 26.-29.9.2018. (short oral presentation)
 
Brčić Luka*, Barić Ana, Gračan Sanda,  Torlak Lovrić Vesela, Brekalo Marko, Škrabić Veselin, Zemunik Tatijana, Barbalić Maja, Punda Ante, Boraska Perica Vesna. Genome-wide association analysis suggests novel loci underlying thyroid antibodies in Hashimoto's thyroiditis. 4th Congress of Croatian Geneticists with international participation, Krk, 26.-29.9.2018. (short oral presentation)
 
Barić A, Brčić L, Gračan S, Škrabić V, Brekalo M, Šimunac M, Torlak Lovrić V, Anić I, Barbalić M, Zemunik T, Punda A, Boraska Perica V. Thyroglobulin antibodies are associated with symptom burden in patients with Hashimoto's thyroiditis. 41th Annual Meeting of the European Thyroid Association (ETA), 15.-18.09.2018., Newcastle, UJ (poster presentation)
 
Vesna Boraska Perica, Luka Brčić, Ana Barić, Sanda Gračan, Dean Kaličanin, Ivana Gunjača, Vesela Torlak Lovrić, Marko Brekalo, Marta Radman, Veselin Škrabić, Ana Miljković, Ivana Kolčić, Stana Tokić, Mario Štefanić, Ljubica Glavaš-Obrovac, Ozren Polašek, Tatijana Zemunik, Maja Barbalić, Ante Punda. A genome-wide association analysis of Hashimoto’s thyroiditis. American Society of Human Genetics Annual Meeting, Orlando, Florida, SAD, 17.-21.10.2017 (poster presentation)
 
Brčić L, Barić A, Gračan S, Kaličanin D, Gunjača I, Torlak Lovrić V, Brekalo M, Radman M, Škrabić V, Tokić S, Štefanić M, Glavaš-Obrovac Lj, Zemunik T, Barbalić M, Punda A, Boraska Perica V*. Genome-wide association analysis approach in identifying loci for complex diseases, an example for Hashimoto's thyroiditis. Second Adriatic Symposium on Biophysical Approaches in Biomedical Studies. Split, Croatia, September 24-28, 2017 (invited lecture).
 
Brčić L*, Barić A, Gračan S, Gunjača I, Torlak Lovrić V, Brekalo M, Škrabić V, Zemunik T, Barbalić M, Punda A, Boraska Perica V. Genome-wide association analysis of thyroid volume and thyroid antibodies in Hashimoto's thyroiditis. Second Adriatic Symposium on Biophysical Approaches in Biomedical Studies. Split, Croatia, September 24-28, 2017 (short oral presentation)
 
Dean Kaličanin*, Luka Brčić, Ana Barić, Sanja Zlodre, Maja Barbalić, Vesela Torlak Lovrić, Ante Punda, Vesna Boraska Perica. Genome-wide association analysis of food intolerance in patients with Hashimoto's thyroiditis. The 10th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine,19.-24.06.2017., Dubrovnik, Croatia (short oral presentation)
 
Barić A, Brčić L, Gračan S, Torlak Lovrić V, Gunjača I, Šimunac M, Boban M, Zemunik T, Polašek O, Barbalić M, Punda A, Boraska Perica V. Association of established hypothyroidism associated genetic variants with Hashimoto's thyroiditis. Annual Congress of the European Association of Nuclear Medicine, 15-19 October 2016, Barcelona, Spain (poster presentation)
 
Brčić Luka, Barić Ana, Gračan Sanda, Brdar Dubravka, Torlak Lovrić Vesela, Vidan Nikolina, Zemunik Tatijana, Polašek Ozren, Barbalić Maja, Punda Ante, Boraska Perica Vesna. Hashimoto’s thyroiditis and thyroid peroxidase autoantibody levels share genetic background. VI. Hrvatski kongres humane genetike s međunarodnim sudjelovanjem, Split, Hrvatska, 5.-7. 11. 2015. (poster presentation)
 

Interests and topics: Thyroid gland, Hashimoto's thyroiditis, hypothyreosis, genome-wide association analysis, genetic variant, genetic epidemiology, environmental factors, thyroid autoantibodies, antibodies to food antigens, antibodies to viral antigens

 

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