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A polymorphic GGC repeat in the NPAS2 gene and its association with melanoma


Dević Pavlić, Sanja; Markova Car, Elitza; Jurišić, Davor; Franzoni, Alessandra; Puppin, Cinzia; De Luca, Marila; Petruz, Giulia; Radojčić Badovinac, Anđelka; Damante, Giuseppe; Kraljević Pavelić, Sandra
A polymorphic GGC repeat in the NPAS2 gene and its association with melanoma // International Society for Applied Biological Sciences, Program and abstracts / Kayser, M ; Ördög, T ; Vuk-Pavlović, S ; Primorać, D ; Schanfield, M (ur.).
Zagreb, 2015. str. 195-195 (poster, međunarodna recenzija, sažetak, znanstveni)


Naslov
A polymorphic GGC repeat in the NPAS2 gene and its association with melanoma

Autori
Dević Pavlić, Sanja ; Markova Car, Elitza ; Jurišić, Davor ; Franzoni, Alessandra ; Puppin, Cinzia ; De Luca, Marila ; Petruz, Giulia ; Radojčić Badovinac, Anđelka ; Damante, Giuseppe ; Kraljević Pavelić, Sandra

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

Izvornik
International Society for Applied Biological Sciences, Program and abstracts / Kayser, M ; Ördög, T ; Vuk-Pavlović, S ; Primorać, D ; Schanfield, M - Zagreb, 2015, 195-195

ISBN
978-953-57695-1-4

Skup
Ninth ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic Lectures in Individualized Medicine

Mjesto i datum
Bol, Otok Brač, Hrvatska, 22-26.06.2015

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
NPAS2 gene; clock genes; melanoma; cancer susceptibility; genetics

Sažetak
Circadian rhythms are influenced by the expression of clock genes, which are controlled by a feedback mechanism that allows a rhythmic variation during 24 hours. Various evidences indicate that clock genes are important in neoplastic transformation. NPAS2 is the largest circadian gene. Experimental evidence suggest involvement of NPAS2 in tumorogenesis and cancer growth as a tumour suppressor. We investigated the presence of polymorphisms in the 5’ region of NPAS2 gene. The study included 72 melanoma patients and 77 control subjects (healthy blood donors). A polymorphic GGC repeat in the untranslated (first) exon of NPAS2 was found using Sanger sequencing and capillary electrophoresis. The same method was used to measure allele and genotype frequencies of the GGC repeat in all included subjects. In both groups four alleles were present, with 7, 9, 12 and 13 GGC repeats. Alleles 7 and 9 were the most frequent (frequency > 40% in controls and melanoma subjects). In both groups, allele and genotype frequencies were in Hardy-Weinberg equilibrium. In terms of allelic frequencies no statistical difference was found between melanoma and control subjects. In contrast, significant differences were found in particular genotype frequencies: the genotype 7/9 was more frequent in controls than in melanoma subjects (57.1% vs 34.7% ; p=0.0084) ; the genotype 9/9 was more frequent in melanoma subjects than in controls (26.3% vs 9.0% ; p=0.0087). No statistical difference was found for other genotypes. The homozygous genotype of the 9 GGC repeat of the NPAS2 gene could be a susceptibility factor for melanoma.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekt / tema
335-0000000-3532 - Uloga IGF2 i signalni putovi nizvodno u karcinomima pluća čovjeka (Sandra Kraljević Pavelić, )
335-0982464-2393 - Molekularna obilježja miofibroblasta Dupuytrenove bolesti (Krešimir Pavelić, )

Ustanove
Klinički bolnički centar Rijeka,
Sveučilište u Rijeci - Odjel za biotehnologiju