Naslov
Association of vitamin D receptor gene polymorphisms with susceptibility to Graves' disease in Eastern Croatian population

Autori
Štefanić, Mario ; Karner, Ivan ; Papić, Stana ; Mihaljević, Ivan ; Vrdoljak, Dubravka ; Cipar- Garaj, Branka ; Gardašanić, Jasna ; Krstonošić, Branislav ; Glavaš-Obrovac, Ljubica

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Book of Abstracts: Fifth International Congress of the Croatian Society of Nuclear Medicine / Težak, S - Zagreb, 2005

Skup
Fifth International Congress of the Croatian Society of Nuclear Medicine

Mjesto i datum
Opatija, Hrvatska, 15.05.2005. - 18.05.2005

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
vitamin D ; receptor ; polymorphism ; Graves' disease ; Croatia

Sažetak
Aim. to evaluate the effect of vitamin D3 receptor (VDR) gene ApaI/BsmI/TaqI restriction fragment length polymorphisms on Graves' disease (GD)susceptibility in a subset of patients from Eastern Croatia. Methods. GD patients (n=110) and ethnically matched (n=99), euthyroid controls with no clinical evidence or family history of thyroid or autoimmune diseases were genotyped for VDR gene polymorphisms by Apa/bsmI/TaqI endonuclease digestion after PCR amplification with sequence specific primers. Results. The ApaI AA (15% vs 30%, patients vs controls, respectively, p=0.006, odds ratio (OR)=0.39) and BsmI BB (7% vs 23%, p=0.001, OR=0.26) genotypes were significantly underrepresented in patients, whereas aa (31% vs 9%, p<0.001, OR=3.92) and TaqI TT (52% vs 31%, p=0.003, OR=2.36) genotypes were significantly more frequent in patients than controls. The genotype combination which conferred the strongest protection against GD was BBAAtt (3% vs 17%, p<0.001, OR=0.14). Conclusion. These findings suggest that VDR gene ApaI/bsmI/TaqI polymorphisms are associated with GD susceptibility in a subset of patients from Eastern Croatia confirming thus respective observations previously made in Japanese women. The ApaI AA and BsmI BB genotypes appear to confer protection against GD, whereas aa and TaqI Tt genotypes were associated with an increased risk for GD. However, the true mechanisms of association remain to be elucidated.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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