Naslov
Vitamin D receptor polymorphism is risk factor for development of type 1 diabetes mellitus

Autori
Zemunik, Tatijana ; Škrabić, Veselin ; Diklić, Dijaneta ; Boraska, Vesna ; Čačev, Tamara ; Terzić, Janoš

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

Izvornik
Abstracts of the European Human Genetics Conference 2004 in European Journal of Human Genetics / - München : European Society of Human Genetics, 2004, 270-271

Skup
European Human Genetics Conference 2004

Mjesto i datum
München, Njemačka, 12.06.2004. - 15.06.2004

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
vitamin D receptor; genotip; tip 1 dijabetes; genska prijemljivost; Dalmacija
(Vitamin D receptor; genotype; type 1 diabetes; genetic susceptibility; Dalmatia)

Sažetak
The polygenetic susceptibility to type 1 diabetes (T1DM) is well established and recent studies have demonstrated linkage of a vitamin D receptor gene (VDR), interleukin-1 receptor type 1 gene (IL1R1) and Neuro D/BETA2, a transcription factor of the insulin gene, to disease. We studied 134 individuals with T1DM and 132 control subjects. The genotyping was performed using PCR and BsmI, ApaI and TaqI restriction enzymes for VDR polymorphism, PstI, HinfI and AluI for IL1R1 polymorphism and MwoI for NeuroD/BETA2 polymorphism. Data were analysed using the c2 test. VDR gene polymorphisms are associated with an increased risk of T1DM in Dalmatian population caused with differences in Taq I genotype distribution between T1DM and control subjects. The genotype combination, which conferred strongest susceptibility to T1DM, was BBAAtt (P=0.002). Interestingly, the BAt haplotype was found to be a risk factor in a German population, the only European population tested thus far. All tested polymorphisms of IL1R1 gene and NeuroD/BETA2 gene did not display difference among case and control subjects. Our data implement involvement of vitamin D in pathogenesis of T1DM.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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