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 journalArticle

25 Citations (Scopus)

Abstract

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
Volume514
Issue number1
DOIs
Publication statusPublished - 2012 Apr 11

Fingerprint

Glucosylceramidase
Parkinson Disease
Mutation
Exons
Population
Genes
Gaucher Disease
Mutation Rate
Age of Onset
Ethnic Groups
Odds Ratio

Keywords

  • Common complex disease
  • Gaucher disease
  • Glucocerebrosidase
  • Parkinson disease
  • Rare variants

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Choi, J. M., Kim, W. C., Lyoo, C. H., Kang, S. Y., Lee, P. H., Baik, J. S., ... Kim, Y. J. (2012). Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population. Neuroscience Letters, 514(1), 12-15. https://doi.org/10.1016/j.neulet.2012.02.035

Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population. / Choi, Jung Mi; Kim, Won Chan; Lyoo, Chul Hyoung; Kang, Suk Yun; Lee, Phil Hyu; Baik, Jong Sam; Koh, Seong Beom; Ma, Hyeo Il; Sohn, Young Ho; Lee, Myung Sik; Kim, Yun Joong.

In: Neuroscience Letters, Vol. 514, No. 1, 11.04.2012, p. 12-15.

Research output: Contribution to journalArticle

Choi, JM, Kim, WC, Lyoo, CH, Kang, SY, Lee, PH, Baik, JS, Koh, SB, Ma, HI, Sohn, YH, Lee, MS & Kim, YJ 2012, 'Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population', Neuroscience Letters, vol. 514, no. 1, pp. 12-15. https://doi.org/10.1016/j.neulet.2012.02.035
Choi, Jung Mi ; Kim, Won Chan ; Lyoo, Chul Hyoung ; Kang, Suk Yun ; Lee, Phil Hyu ; Baik, Jong Sam ; Koh, Seong Beom ; Ma, Hyeo Il ; Sohn, Young Ho ; Lee, Myung Sik ; Kim, Yun Joong. / Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population. In: Neuroscience Letters. 2012 ; Vol. 514, No. 1. pp. 12-15.
@article{d2a463e5b0b24d3b8b0c91ab0c32973d,
title = "Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population",
abstract = "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.",
keywords = "Common complex disease, Gaucher disease, Glucocerebrosidase, Parkinson disease, Rare variants",
author = "Choi, {Jung Mi} and Kim, {Won Chan} and Lyoo, {Chul Hyoung} and Kang, {Suk Yun} and Lee, {Phil Hyu} and Baik, {Jong Sam} and Koh, {Seong Beom} and Ma, {Hyeo Il} and Sohn, {Young Ho} and Lee, {Myung Sik} and Kim, {Yun Joong}",
year = "2012",
month = "4",
day = "11",
doi = "10.1016/j.neulet.2012.02.035",
language = "English",
volume = "514",
pages = "12--15",
journal = "Neuroscience Letters",
issn = "0304-3940",
publisher = "Elsevier Ireland Ltd",
number = "1",

}

TY - JOUR

T1 - Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population

AU - Choi, Jung Mi

AU - Kim, Won Chan

AU - Lyoo, Chul Hyoung

AU - Kang, Suk Yun

AU - Lee, Phil Hyu

AU - Baik, Jong Sam

AU - Koh, Seong Beom

AU - Ma, Hyeo Il

AU - Sohn, Young Ho

AU - Lee, Myung Sik

AU - Kim, Yun Joong

PY - 2012/4/11

Y1 - 2012/4/11

N2 - 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.

AB - 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.

KW - Common complex disease

KW - Gaucher disease

KW - Glucocerebrosidase

KW - Parkinson disease

KW - Rare variants

UR - http://www.scopus.com/inward/record.url?scp=84862796014&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84862796014&partnerID=8YFLogxK

U2 - 10.1016/j.neulet.2012.02.035

DO - 10.1016/j.neulet.2012.02.035

M3 - Article

C2 - 22387070

AN - SCOPUS:84862796014

VL - 514

SP - 12

EP - 15

JO - Neuroscience Letters

JF - Neuroscience Letters

SN - 0304-3940

IS - 1

ER -