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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 
 NEUROSCIENCE LETTERS, Vol.514(1) : 12-15, 2012 
Journal Title
Issue Date
Adolescent ; Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group/genetics* ; DNA Mutational Analysis ; Exons ; Female ; Gaucher Disease/enzymology ; Gaucher Disease/genetics ; Genetic Association Studies ; Genetic Predisposition to Disease ; Glucosylceramidase/genetics* ; Humans ; Male ; Middle Aged ; Mutation* ; Mutation Rate ; Parkinson Disease/enzymology ; Parkinson Disease/genetics* ; Republic of Korea ; Risk Factors
Parkinson disease ; Glucocerebrosidase ; Gaucher disease ; Rare variants ; Common complex disease
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.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Sohn, Young Ho(손영호) ORCID logo https://orcid.org/0000-0001-6533-2610
Lee, Myung Sik(이명식) ORCID logo https://orcid.org/0000-0002-8413-1854
Lee, Phil Hyu(이필휴) ORCID logo https://orcid.org/0000-0001-9931-8462
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