The Association between E326K of GBA and the Risk of Parkinson’s Disease
It is reported that both the homozygous and heterozygous states of GBA mutations which are the causes of Gaucher disease (GD) are linked to the risk of PD. However, the GBA variant p.E326K (c.1093G > A, rs2230288), which does not result in GD in homozygous carriers, has triggered debate among exp...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
|
| Series: | Parkinson's Disease |
| Online Access: | http://dx.doi.org/10.1155/2018/1048084 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850236749538656256 |
|---|---|
| author | Yongpan Huang Langmei Deng Yanjun Zhong Minhan Yi |
| author_facet | Yongpan Huang Langmei Deng Yanjun Zhong Minhan Yi |
| author_sort | Yongpan Huang |
| collection | DOAJ |
| description | It is reported that both the homozygous and heterozygous states of GBA mutations which are the causes of Gaucher disease (GD) are linked to the risk of PD. However, the GBA variant p.E326K (c.1093G > A, rs2230288), which does not result in GD in homozygous carriers, has triggered debate among experts studying Parkinson's disease (PD). In order to determine if the E326K variant of GBA is associated with the risk of PD, a standard meta-analysis was conducted by searching and screening publications, data extraction, and statistical analysis. Finally, a total of 15 publications, containing 5,908 PD patients and 5,605 controls, were included in this analysis. The pooled OR of the E326K genotype analysis was 1.99 (95% CI: 1.57–2.51). The minor allele frequencies of E326K for PD patients and controls were 1.67% and 1.03%, respectively. The pooled OR for the minor allele A was 1.99 (95% CI: 1.58–2.50). According to the subgroup analysis, we found that the significant differences between PD patients and controls for both genotype and allele of E326K also exist in Asians and Caucasians, respectively. In this study, we found that E326K of GBA is associated with the risk of PD in total populations, Asians, and Caucasians, respectively. Further studies are needed to clarify the role of GBA in the pathogenesis of PD. |
| format | Article |
| id | doaj-art-1198331cf6834bdb83010e40a9453b59 |
| institution | OA Journals |
| issn | 2090-8083 2042-0080 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Parkinson's Disease |
| spelling | doaj-art-1198331cf6834bdb83010e40a9453b592025-08-20T02:01:54ZengWileyParkinson's Disease2090-80832042-00802018-01-01201810.1155/2018/10480841048084The Association between E326K of GBA and the Risk of Parkinson’s DiseaseYongpan Huang0Langmei Deng1Yanjun Zhong2Minhan Yi3Information Security and Big Data Research Institute, Central South University, Changsha, Hunan, ChinaDepartment of Emergency, The Third Xiangya Hospital and School of Life Sciences, Central South University, Changsha, Hunan, ChinaICU Centre, The Second Xiangya Hospital, Central South University, Changsha, Hunan, ChinaInformation Security and Big Data Research Institute, Central South University, Changsha, Hunan, ChinaIt is reported that both the homozygous and heterozygous states of GBA mutations which are the causes of Gaucher disease (GD) are linked to the risk of PD. However, the GBA variant p.E326K (c.1093G > A, rs2230288), which does not result in GD in homozygous carriers, has triggered debate among experts studying Parkinson's disease (PD). In order to determine if the E326K variant of GBA is associated with the risk of PD, a standard meta-analysis was conducted by searching and screening publications, data extraction, and statistical analysis. Finally, a total of 15 publications, containing 5,908 PD patients and 5,605 controls, were included in this analysis. The pooled OR of the E326K genotype analysis was 1.99 (95% CI: 1.57–2.51). The minor allele frequencies of E326K for PD patients and controls were 1.67% and 1.03%, respectively. The pooled OR for the minor allele A was 1.99 (95% CI: 1.58–2.50). According to the subgroup analysis, we found that the significant differences between PD patients and controls for both genotype and allele of E326K also exist in Asians and Caucasians, respectively. In this study, we found that E326K of GBA is associated with the risk of PD in total populations, Asians, and Caucasians, respectively. Further studies are needed to clarify the role of GBA in the pathogenesis of PD.http://dx.doi.org/10.1155/2018/1048084 |
| spellingShingle | Yongpan Huang Langmei Deng Yanjun Zhong Minhan Yi The Association between E326K of GBA and the Risk of Parkinson’s Disease Parkinson's Disease |
| title | The Association between E326K of GBA and the Risk of Parkinson’s Disease |
| title_full | The Association between E326K of GBA and the Risk of Parkinson’s Disease |
| title_fullStr | The Association between E326K of GBA and the Risk of Parkinson’s Disease |
| title_full_unstemmed | The Association between E326K of GBA and the Risk of Parkinson’s Disease |
| title_short | The Association between E326K of GBA and the Risk of Parkinson’s Disease |
| title_sort | association between e326k of gba and the risk of parkinson s disease |
| url | http://dx.doi.org/10.1155/2018/1048084 |
| work_keys_str_mv | AT yongpanhuang theassociationbetweene326kofgbaandtheriskofparkinsonsdisease AT langmeideng theassociationbetweene326kofgbaandtheriskofparkinsonsdisease AT yanjunzhong theassociationbetweene326kofgbaandtheriskofparkinsonsdisease AT minhanyi theassociationbetweene326kofgbaandtheriskofparkinsonsdisease AT yongpanhuang associationbetweene326kofgbaandtheriskofparkinsonsdisease AT langmeideng associationbetweene326kofgbaandtheriskofparkinsonsdisease AT yanjunzhong associationbetweene326kofgbaandtheriskofparkinsonsdisease AT minhanyi associationbetweene326kofgbaandtheriskofparkinsonsdisease |