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

DC FieldValueLanguage
dc.contributor.author류철형-
dc.contributor.author손영호-
dc.contributor.author이명식-
dc.contributor.author이필휴-
dc.date.accessioned2014-12-19T17:30:44Z-
dc.date.available2014-12-19T17:30:44Z-
dc.date.issued2012-
dc.identifier.issn0304-3940-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/91546-
dc.description.abstractRecent 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.-
dc.description.statementOfResponsibilityopen-
dc.relation.isPartOfNeuroscience Letters-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdolescent-
dc.subject.MESHAdult-
dc.subject.MESHAge of Onset-
dc.subject.MESHAged-
dc.subject.MESHAged, 80 and over-
dc.subject.MESHAsian Continental Ancestry Group/genetics*-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHExons-
dc.subject.MESHFemale-
dc.subject.MESHGaucher Disease/enzymology-
dc.subject.MESHGaucher Disease/genetics-
dc.subject.MESHGenetic Association Studies-
dc.subject.MESHGenetic Predisposition to Disease-
dc.subject.MESHGlucosylceramidase/genetics*-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHMutation*-
dc.subject.MESHMutation Rate-
dc.subject.MESHParkinson Disease/enzymology-
dc.subject.MESHParkinson Disease/genetics*-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHRisk Factors-
dc.titleAssociation of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Neurology (신경과학)-
dc.contributor.googleauthorJung Mi Choi-
dc.contributor.googleauthorWon Chan Kim-
dc.contributor.googleauthorChul Hyoung Lyoo-
dc.contributor.googleauthorSuk Yun Kang-
dc.contributor.googleauthorPhil Hyu Lee-
dc.contributor.googleauthorJong Sam Baik-
dc.contributor.googleauthorSeong-Beom Koh-
dc.contributor.googleauthorHyeo-Il Ma-
dc.contributor.googleauthorYoung Ho Sohn-
dc.contributor.googleauthorMyung Sik Lee-
dc.contributor.googleauthorYun Joong Kim-
dc.identifier.doi22387070-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01982-
dc.contributor.localIdA02753-
dc.contributor.localIdA03270-
dc.relation.journalcodeJ02364-
dc.identifier.pmid22387070-
dc.identifier.urlhttp://www.sciencedirect.com/science/article/pii/S0304394012002340-
dc.subject.keywordParkinson disease-
dc.subject.keywordGlucocerebrosidase-
dc.subject.keywordGaucher disease-
dc.subject.keywordRare variants-
dc.subject.keywordCommon complex disease-
dc.contributor.alternativeNameLYoo, Chul Hyoung-
dc.contributor.alternativeNameSohn, Young Ho-
dc.contributor.alternativeNameLee, Myung Sik-
dc.contributor.alternativeNameLee, Phil Hyu-
dc.contributor.affiliatedAuthorSohn, Young Ho-
dc.contributor.affiliatedAuthorLee, Myung Sik-
dc.contributor.affiliatedAuthorLee, Phil Hyu-
dc.citation.volume514-
dc.citation.number1-
dc.citation.startPage12-
dc.citation.endPage15-
dc.identifier.bibliographicCitationNeuroscience Letters, Vol.514(1) : 12-15, 2012-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers

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