Naslov
Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population.

Autori
Boraska, Vesna ; Torlak, Vesela ; Škrabić, Veselin ; Kačić, Zrinka ; Jakšić, Jasminka ; Stipančić, Gordana ; Uroić Špehar, Anita ; Markotić, Anita ; Zemunik, Tatijana

Izvornik
Clinical biochemistry (0009-9120) 42 (2009), 9; 819-822

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

Ključne riječi
type 1 diabetes; glycosyltransferase; B4GALNT1; GalNAc-T; ganglioside; tag polymorphism; association analysis; Croatia

Sažetak
Type 1 diabetes mellitus (T1DM) is an autoimmune disease characterized by destruction of pancreatic beta cells. Gangliosides are thought to be a target of a variety of anti-islet autoantibodies. The formation of gangliosides is catalyzed by addition of sugar residues to complex glycoconjugate molecules by glycosyltransferases. Beta-1, 4-N-acetyl-galactosaminyl transferase 1 is the enzyme involved in the synthesis of asialo, a, b and c-series gangliosides and it is coded by B4GALNT1 gene. We genotyped 2 B4GALNT1 tagSNPs, designed to capture 100% of common variation in the region, in 202 families and 199 controls from the Croatian population. Transmission disequilibrium test and case-control analysis did not detect an association of B4GALNT1 gene with T1DM. Expression of gangliosides requires coordinated work of many genes. There is enough evidence showing that gangliosides are plausible contributors to T1DM pathological processes and, therefore, future studies on different glycosyltransferase genes are necessary.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Javno zdravstvo i zdravstvena zaštita

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