Naslov
European combined analysis of the CTG18.1 and ERDA1 CAG/CTG repeats in bipolar disorder

Autori
Del-Favero, J. ; Gestel, S.V. ; Borglum, A.D. ; Muir, W. , Ewald, H. ; Mors, O. ; Ivezić, Slađana ; Oruč, Lilijana ; Adolfsson, R. ; Blackwood, D. ; Kruse, T. ; Mendlewicz, J. ; Schalling, M. ; Van Broeckhoven, C.

Izvornik
European journal of human genetics (1018-4813) 10 (2002), 4; 276-280

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

Ključne riječi
bipolar disorder; triplet repeat expansion; CTG18; ERDA1

Sažetak
Several groups have reported association between large CAG/CTG repeats in the genome and BP disorder using the Repeat Expansion Detection (RED) method. Molecular interpretation studies demonstrated that around 90% of the large CAG/CTG repeats detected by RED can by explained by repeat size at either the CTG18.1 or ERDA-1 locus. In this study we report the findings on a large European BP case-control sample analysed for these two frequently expanded repeats. The frequency of expanded alleles (>40 repeats) at the CTG18.1 locus was significantly higher in the subgroup of patients with a more severe phenotype BPI and a positive first degree family history than in a group of matched controls (9% vs 5%). No difference in ERDA-1 expansion frequency was seen between BP cases and matched controls. We conclude that the ERDA-1 locus is not related to the BP phenotype while expanded alleles at the CTG18.1 locus cannot be excluded as a vulnerability factor for BP disorder.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA