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Pregled bibliografske jedinice broj: 974848

Association of established hypothyroidism- associated genetic variants with Hashimoto's thyroiditis


Barić, A.; Brčić, L.; Gračan, S.; Torlak Lovrić, V.; Gunjača, I.; Šimunac, M.; Brekalo, M.; Boban, M.; Polašek, O.; Barbalić, M. et al.
Association of established hypothyroidism- associated genetic variants with Hashimoto's thyroiditis // JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 40 (2017), 10; 1061-1067 doi:10.1007/s40618-017-0660-8 (međunarodna recenzija, članak, znanstveni)


Naslov
Association of established hypothyroidism- associated genetic variants with Hashimoto's thyroiditis

Autori
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.

Izvornik
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (1720-8386) 40 (2017), 10; 1061-1067

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Hashimoto's thyroiditis ; Hypothyroidism ; Candidate gene study ; Genetic epidemiology ; Single-nucleotide polymorphism

Sažetak
PURPOSE: Hashimoto's thyroiditis (HT) as a chronic autoimmune disease of the thyroid gland is the most common cause of hypothyroidism. Since HT and hypothyroidism are closely related, the main aim of this study was to explore the association of established hypothyroidism single-nucleotide polymorphisms (SNPs) with HT. METHODS: The case-control dataset included 200 HT cases and 304 controls. Diagnosis of HT cases was based on clinical examination, measurement of thyroid antibodies (TgAb, TPOAb), hormones (TSH and FT4) and ultrasound examination. We genotyped and analysed 11 known hypothyroidism-associated genetic variants. Case-control association analysis was performed in order to test each SNP for the association with HT using logistic regression model. Additionally, each SNP was tested for the association with thyroid-related quantitative traits (TPOAb levels, TgAb levels and thyroid volume) in HT cases only using linear regression. RESULTS: We identified two genetic variants nominally associated with HT rs3184504 in SH2B3 gene (P = 0.0135, OR = 0.74, 95% CI = 0.57- 0.95) and rs4704397 in PDE8B gene (P = 0.0383, OR = 1.32, 95% CI = 1.01- 1.74). The SH2B3 genetic variant also showed nominal association with TPOAb levels (P = 0.0163, β = -0.46) and rs4979402 inside DFNB31 gene was nominally associated with TgAb levels (P = 0.0443, β = 0.41). CONCLUSIONS: SH2B3 gene has previously been associated with susceptibility to several autoimmune diseases, whereas PDE8B has been associated with TSH levels and suggested to modulate thyroid physiology that may influence the manifestation of thyroid disease. Identified loci are novel and biologically plausible candidates for HT development and represent good basis for further exploration of HT susceptibility.

Izvorni jezik
Engleski



POVEZANOST RADA


Projekt / tema
HRZZ-UIP-2013-11-4950 - Cjelogenomska analiza povezanosti Hashimotovog tiroiditisa (Vesna Boraska, )

Ustanove
KBC Split,
Medicinski fakultet, Split

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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