| Title |
SEPT14 Is Associated with a Reduced Risk for Parkinson’s Disease and Expressed in Human Brain
|
|---|---|
| Published in |
Journal of Molecular Neuroscience, April 2016
|
| DOI | 10.1007/s12031-016-0738-3 |
| Pubmed ID | |
| Authors |
Liron Rozenkrantz, Ziv Gan-Or, Mali Gana-Weisz, Anat Mirelman, Nir Giladi, Anat Bar-Shira, Avi Orr-Urtreger |
| Abstract |
Genes involved in cytoskeletal stability and trafficking, such as MAPT and SNCA, are important risk factors for Parkinson's disease (PD). Two members of the cytoskeletal Septin family, SEPT4 and SEPT5, were implicated in PD pathobiology. We aimed to determine whether Septin genes are associated with Parkinson's disease. To this end, six SNPs located in four different Septin loci were analyzed in 720 PD patients and 740 controls, all of Ashkenazi-Jewish origin. In addition, SEPT14 was sequenced and its expression was determined in different human tissues. Our results revealed that two SNPs in the SEPT14 locus, rs11981883 and rs10241628, were associated with a reduced risk for PD (p = 0.02 and p = 0.005). A third SNP, rs77231105, was localized in the putative promoter of SEPT14 and was predicted to affect the binding of the transcription factor Nkx2.5. This SNP was also associated with a reduced risk for PD (OR = 0.28, p < 0.0007). The three SEPT14 SNPs defined a protective haplotype which significantly reduced the risk for PD by 4-fold (p = 0.002). SEPT14 was found to be expressed in the brain and in the Substantia Nigra. These results suggest that SEPT14 may have a protective role in Parkinson's disease pathogenesis, yet more studies are necessary to validate these results. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Canada | 1 | 33% |
| United States | 1 | 33% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 23 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 26% |
| Student > Master | 4 | 17% |
| Student > Bachelor | 3 | 13% |
| Student > Ph. D. Student | 3 | 13% |
| Student > Doctoral Student | 2 | 9% |
| Other | 3 | 13% |
| Unknown | 2 | 9% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 30% |
| Agricultural and Biological Sciences | 3 | 13% |
| Medicine and Dentistry | 3 | 13% |
| Neuroscience | 2 | 9% |
| Computer Science | 1 | 4% |
| Other | 3 | 13% |
| Unknown | 4 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 11. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 24 August 2020.
All research outputs
#3,253,758
of 25,373,627 outputs
Outputs from Journal of Molecular Neuroscience
#82
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Outputs of similar age
#49,615
of 312,375 outputs
Outputs of similar age from Journal of Molecular Neuroscience
#1
of 21 outputs
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