NeuroD1 gene and interleukin-18 gene polymorphisms in type 1 diabetes in Dalmatian population of Southern Croatia

• Published in: Croatian medical journal 2006-08, Vol.47 (4), p.571-578
• Main Authors: Boraska, Vesna, Terzić, Janos, Skrabić, Veselin, Caćev, Tamara, Bucević-Popović, Viljemka, Peruzović, Marijana, Markotić, Anita, Zemunik, Tatijana
• Format: Article
• Language: English
• Subjects: Basic Helix-Loop-Helix Transcription Factors - genetics; Basic Science; Croatia; Diabetes Mellitus, Type 1 - genetics; Female; Gene Frequency; Genetic Predisposition to Disease; Genetics, Population; Humans; Interleukin-18 - genetics; Male; Polymorphism, Genetic
• ISSN: 0353-9504; 1332-8166

To evaluate the frequency of known polymorphisms in the exon 2 of the NeuroD1 gene and in the interleukin (IL)-18 promoter region in patients with type 1 diabetes mellitus (T1DM) and in healthy control subjects in Dalmatia, Southern Croatia. A total of 134 unrelated patients (73 men and 61 women) and 132 consecutive unrelated healthy controls (61 men and 71 women) from the Dalmatian region of southern Croatia were recruited for the study. NeuroD1 genotypes (GG, GA, AA) were identified by means of polymerase chain reaction followed by restriction fragment length polymorphism (PCR/RFLP). IL-18 polymorphism in the position -137 of the promoter region was detected by using PCR sequence-specific primers. Genotype distributions of both genes did not show significant difference between patients and controls. Our results suggest that NeuroD1 exon 2 and IL-18 promoter gene polymorphisms are not associated with development of T1DM susceptibility in the population of South Croatia. In addition to previously published positive correlations of these polymorphisms with development of T1DM among different world populations, our findings indicate the existence of ethnic variations in the association of these genes with disease development.