RGD Reference Report - SEPT14 Is Associated with a Reduced Risk for Parkinson's Disease and Expressed in Human Brain. - Rat Genome Database

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SEPT14 Is Associated with a Reduced Risk for Parkinson's Disease and Expressed in Human Brain.

Authors: Rozenkrantz, Liron  Gan-Or, Ziv  Gana-Weisz, Mali  Mirelman, Anat  Giladi, Nir  Bar-Shira, Anat  Orr-Urtreger, Avi 
Citation: Rozenkrantz L, etal., J Mol Neurosci. 2016 Jul;59(3):343-50. doi: 10.1007/s12031-016-0738-3. Epub 2016 Apr 26.
RGD ID: 13504669
Pubmed: PMID:27115672   (View Abstract at PubMed)
DOI: DOI:10.1007/s12031-016-0738-3   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Parkinson's disease susceptibilityIAGP 13504669DNA:SNPs:promoter:rs10241628 more ...RGD 
Parkinson's disease susceptibilityISOSEPTIN14 (Homo sapiens)13504669; 13504669DNA:SNPs:promoter:rs10241628 more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Septin14  (septin 14)

Genes (Mus musculus)
Septin14  (septin 14)

Genes (Homo sapiens)
SEPTIN14  (septin 14)


Additional Information