Naslov
Tumor necrosis factor-a promotor polymorphisms and type 1 diabetes mellitus
(Tumor necrosis factor-a promotor polymorphisms and type 1 diabetes mellitus.)

Autori
Zemunik, Tatijana ; Boraska, Vesna ; Škrabić, Veselin

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

Izvornik
European Journal of Human Genetics / European Society of Human Genetics - , 2007

Skup
European Human Genetics Conference

Mjesto i datum
Nica, Francuska, 16.06.2007. - 19.06.2007

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Type 1 diabetes; tumor necrosis factor; polymorphism; Croatia

Sažetak
INTRODUCTION: Type 1 diabetes mellitus (T1DM) is complex, heterogenous disease initiated by an autoimmune response against pancreatic β cells and followed by progressive defect of insulin secretion from β cells. Tumor necrosis factor (TNF-α ) is a potent cytokine, with a wide range of proinflamatory activities that has been implicated in the pathogenesis of many kinds of inflammatory or autoimmune diseases. Therefore we tested an association of two single nucleotide polymorphisms (SNP) in promoter region of TNF-α gene with the susceptibility to T1DM in the Dalmatian population. MATERIALS AND METHODS: 229 T1DM patients and 445 controls were genotyped for G-238A and G-308A promoter variants of TNF-α gene. The PCR products were digested with MspI to detect TNF-α – 238A allele and NcoI to detect TNF-α – 308A allele. Haplotype analysis of these two SNPs was made using the statistical program EH+. Genotype and haplotype association and susceptibility to T1DM was further analyzed using chi-square test. RESULTS: A genotype distribution of G-238A and G-308A TNF-α promoter variants did not differ between the T1DM patients and the controls (p=0.147, p=0.119, respectively). However the TNF-α -238A minor allele was significantly more frequent in the controls (p=0.046). Furthermore, a specific haplotype (-238G, -308A) was observed more often but not quite significantly in the T1DM patients (p=0.069) indicating its possible role as a risk factor. CONCLUSIONS: Our findings indicate that haplotype combination (-238G, -308A) of TNF-α gene may contribute to the susceptibility to T1DM in the Dalmatian population.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA