Naslov
IL7RA polymorphism rs6897932 and susceptibility to multiple sclerosis in West Balkan region

Autori
Stanković, Aleksandra ; Živković Maja, Dinčić, Evica ; Ristić, Smiljana ; Lovrečić, Luca, Starčević Čizmarević, Nada ; Djurić, Tamara ; Sepčić, Juraj ; Kapović, Miljenko ; Raičević, Ranko ; Peterlin, Borut ; Alavantić, Dragan

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

Izvornik
Paediatria Croatica / - Zagreb, 2009, 4-4

Skup
Balkan Meeting on Human Genetics

Mjesto i datum
Cavtat, Hrvatska, 14.05.2009. - 17.05.2009

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
IL7RA gene; multiple sclerosis

Sažetak
Two independent, well-powered studies (genome wide association studies) have recently identified the interleukin-7 receptor α (IL7RA) gene as a susceptibility gene for multiple sclerosis. The most significant non-HLA association with MS was found for polymorphism denoted as rs6897932 (C/T). This association was confirmed in few more studies from different European populations. Still, not all results confirm its role in MS susceptibility. The data for West Balkan region does not exist up to date. The aim of our study was to investigate the association of IL7RA rs6897932 with MS in West Balkan populations: Serbia, Croatia and Slovenia. Methods: Control group consisted of 507 subjects (227 from Serbia and 280 from Croatia and Slovenia). MS patient group consisted of 540 subjects (299 from Serbia and 241 from Croatia and Slovenia). Genotyping of IL7RA rs6897932 was performed using TaqMan genotyping assay on 7500 Real-Time System (ABI). Results: We found no significant difference in genotype or allele frequencies between controls and patients with MS either separately in investigated populations or in pooled sample. The rs6897932 C allele frequency was 0.78 in both MS patients from Serbia and Croatia and Slovenia. In control group C allele frequency was 0.79 in Serbian sample, 0.76 in Croatian and Slovenian sample. There was no significant difference in genotype distribution according to gender. Conclusion: The IL7RA rs6897932 was not recognized as a significant risk factor for MS susceptibility in West Balkan region. It was important to investigate this proposed MS risk marker in regard to other European populations.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA