Genetic analysis of thyroid disorders

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

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Genetic analysis of thyroid disorders

Laboratorij Genetska istraživanja bolesti šitnjače

Head of research group

Prof Vesna Boraska Perica
Head of Department for Medical Biology
Croatia’s delegate in the proceedings of European Molecular Biology Laboratory (EMBL)

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

Analysis of the role of vitamin D with the presence and clinical manifestation of Hashimoto’s thyroiditis

Lead researcher: Vesna Boraska Perica
Funded by HAZU Foundation
Duration: 1st of January 2020 - 31st of December 2020

Genome-wide association analysis of Hashimoto thyroiditis

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
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

Photo gallery

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:

2019. PhD student Ana Barić, MD, defended her doctoral thesis entitled „Analysis of clinical characteristics and phenotypes of patients with Hashimoto’s thyroiditis” under co.mentorship of Assoc. Prof. Ante Punda and Assoc. Prof. Vesna Boraska Perica. Ana Barić was rewared with National L'OREAL-UNESCO scholarchip for „Women in science“ for 2019 on the basis of her PhD work.

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:
2019. Student Mihael Plosnić has defended diploma thesis entitled „Calcitonin status in patients with Hashimoto’s thyroiditis” in 2019 under mentorship of Assoc. Prof. Vesna Boraska Perica

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:

Prof. Vesna Boraska Perica received the Annual Scientific Award for 2020 from University of Split.

Prof. dr. Vesna Boraska Perica

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:

Cvek M, Punda A, Brekalo M, Plosnić M, Barić A, Kaličanin D, Brčić L, Vuletić M, Gunjača I, Torlak Lovrić V, Škrabić V, Boraska Perica V.
Presence or severity of Hashimoto's thyroiditis does not influence basal calcitonin levels: observations from CROHT biobank. J Endocrinol Invest. 2021 Oct 6. doi: 10.1007/s40618-021-01685-3. Epub 2021 Oct 6.

Cvek M, Kaličanin D, Barić A, Vuletić M, Gunjača I, Torlak Lovrić V, Škrabić V, Punda A, Boraska Perica V.
Vitamin D and Hashimoto's Thyroiditis: Observations from CROHT Biobank. Nutrients. 2021 Aug 15;13(8):2793. doi: 10.3390/nu13082793

Kaličanin D, Brčić L, Ljubetić K, Barić A, Gračan S, Brekalo M, Torlak Lovrić V, Kolčić I, Polašek O, Zemunik T, Punda A, Boraska Perica V. Differences in food consumption between patients with Hashimoto's thyroiditis and healthy individuals. Sci Rep. 2020 Jun 30;10(1):10670. doi: 10.1038/s41598-020-67719-7.

Brčić L, Barić A, Benzon B, Brekalo M, Gračan S, Kaličanin D, Škrabić V, Zemunik T, Barbalić M, Novak I, Pešutić Pisac V, Punda A, Boraska Perica V. AATF and SMARCA2 are associated with thyroid volume in Hashimoto's thyroiditis patients. Sci Rep. 2020 Feb 4;10(1):1754. doi: 10.1038/s41598-020-58457-x.

Brčić L, Barić A, Gračan S, Torlak V, Brekalo M, Škrabić V, Zemunik T, Barbalić M, Punda A, Boraska Perica V. Genome-wide association analysis suggests novel loci underlying thyroid antibodies in Hashimoto’s thyroiditis. Sci Rep. 2019 Mar 29;9(1):5360. doi: 10.1038/s41598-019-41850-6

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)

RESEARCH MOBILITY

Results were reported in publication:
Kherrour, W., Kaličanin, D., Brčić, L., Hambaba, L., Yahia, M., Benbia, S., Perica, V.B. Genotype association of IP6K3 gene with Hashimoto’s thyroiditis in Algerian population (Aures region) (2020) Egypt J Med Hum Genet 21, 57 (2020).
https://doi.org/10.1186/s43042-020-00086-0

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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