BACKGROUND: HECT (homologous to E6-AP carboxyl terminus) E3 ubiquitin ligases are fundamental components of the eukaryotic ubiquitin-proteasome system and are involved in the pathogenesis of several human diseases, including polyglutamine diseases. HECTD2, an E3 ubiquitin ligase, has been linked to the incubation time of prion disease in mice, and its polymorphisms have been associated with sporadic Creutzfeldt-Jakob disease (CJD) in the British population. OBJECTIVE: To investigate whether 2 HECTD2 polymorphisms, -247G→A (rs7081363) and +16066T→A (rs12249854), are associated with sporadic CJD in the Korean population. METHODS: We compared the genotype, allele and haplotype frequencies of the 2 HECTD2 polymorphisms in 205 sporadic CJD patients to those of 208 healthy Koreans. RESULTS AND CONCLUSION: Our study does not show significant differences in the genotype and allele frequencies of these 2 polymorphisms between sporadic CJD and normal controls. Significant differences in the haplotype frequencies of these 2 polymorphisms were not observed between sporadic CJD and normal controls either. Our results indicate that these 2 HECTD2 polymorphisms are not associated with genetic susceptibility to sporadic CJD in a Korean population. This is the first genetic association study of HECTD2 with sporadic CJD in an Asian population.
BACKGROUND: HECT (homologous to E6-AP carboxyl terminus) E3 ubiquitin ligases are fundamental components of the eukaryotic ubiquitin-proteasome system and are involved in the pathogenesis of several human diseases, including polyglutamine diseases. HECTD2, an E3 ubiquitin ligase, has been linked to the incubation time of prion disease in mice, and its polymorphisms have been associated with sporadic Creutzfeldt-Jakob disease (CJD) in the British population. OBJECTIVE: To investigate whether 2 HECTD2 polymorphisms, -247G→A (rs7081363) and +16066T→A (rs12249854), are associated with sporadic CJD in the Korean population. METHODS: We compared the genotype, allele and haplotype frequencies of the 2 HECTD2 polymorphisms in 205 sporadic CJDpatients to those of 208 healthy Koreans. RESULTS AND CONCLUSION: Our study does not show significant differences in the genotype and allele frequencies of these 2 polymorphisms between sporadic CJD and normal controls. Significant differences in the haplotype frequencies of these 2 polymorphisms were not observed between sporadic CJD and normal controls either. Our results indicate that these 2 HECTD2 polymorphisms are not associated with genetic susceptibility to sporadic CJD in a Korean population. This is the first genetic association study of HECTD2 with sporadic CJD in an Asian population.