Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population

Jung Mi Choi, Won Chan Kim, Chul Hyoung Lyoo, Suk Yun Kang, Phil Hyu Lee, Jong Sam Baik, Seong Beom Koh, Hyeo Il Ma, Young Ho Sohn, Myung Sik Lee, Yun Joong Kim

Research output: Contribution to journalArticlepeer-review

42 Citations (Scopus)


Recent studies have shown an association between Parkinson disease (PD) and mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (. GBA), which is deficient in patients with Gaucher disease. In Asian populations, 2 mutational analysis studies have been performed in all exons of . GBA; one study in a Japanese population showed the highest odds ratio among all ethnic groups, whereas the other study in ethnic Chinese observed a trend of a higher frequency of . GBA mutation in PD patients without statistical significance. To investigate whether there is an association between PD and mutations of . GBA in a Korean population, we analyzed mutations of . GBA and compared mutation frequencies between Korean PD patients and a control population. We analyzed mutations in . GBA by sequencing exons of . GBA in 277 Korean PD patients and 291 control subjects. All exons of . GBA were sequenced in all PD cases and 100 control subjects. Exon 2 and exons 5-11, where mutations of . GBA were found in our PD patients, were analyzed in an additional 191 control subjects. Five different pathogenic heterozygous . GBA mutations, including N188S, P201H, R257Q, S271G, and L444P, were identified in 9 PD cases (3.2%), whereas there were no . GBA mutations found in control subjects (. p<. 0.01, OR 20.6, 95% CI 1.2-356.4). The mean age-at-onset of heterozygous . GBA variants carriers was younger than that of non-carriers (48.6. ±. 11.9 versus 57.9. ±. 13.5, . p<. 0.05, Mann-Whitney test). Our results suggest that heterozygous mutations of . GBA represent a risk factor for PD in Koreans.

Original languageEnglish
Pages (from-to)12-15
Number of pages4
JournalNeuroscience Letters
Issue number1
Publication statusPublished - 2012 Apr 11

Bibliographical note

Funding Information:
This study was supported by a grant of the Korean Health Technology R&D Project, Ministry for Health, Welfare & Family Affairs, Republic of Korea ( A101903 ).

All Science Journal Classification (ASJC) codes

  • General Neuroscience


Dive into the research topics of 'Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population'. Together they form a unique fingerprint.

Cite this