Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/68758
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Gregory, M. | - |
dc.contributor.author | Lester, S. | - |
dc.contributor.author | Cook-Johnson, R. | - |
dc.contributor.author | Gibson, R. | - |
dc.contributor.author | Proudman, S. | - |
dc.contributor.author | Cleland, L. | - |
dc.contributor.author | James, M. | - |
dc.date.issued | 2011 | - |
dc.identifier.citation | European Journal of Human Genetics, 2011; 19(11):1202-1204 | - |
dc.identifier.issn | 1018-4813 | - |
dc.identifier.issn | 1476-5438 | - |
dc.identifier.uri | http://hdl.handle.net/2440/68758 | - |
dc.description.abstract | Dietary essential polyunsaturated fatty acids (PUFAs) require fatty acid desaturases (FADS) for conversion to long-chain PUFAs (LCPUFAs), which are critical for many aspects of human health. A Δ6-desaturase deficiency in a single patient was attributed to an insertion mutation in the FADS2 promoter. Later population studies have shown this thymidine nucleotide (T) insertion to be a common polymorphism (rs3834458). We examined correlations between rs3834458 variants and fatty acid evidence of FADS2 activity in a cohort of rheumatoid arthritis patients selected for low or nil consumption of n-3 LCPUFA as fish or fish oil. The presence of the T allele was associated with higher FADS2 activity, as indicated by higher conversion of plasma n-3 PUFA to LCPUFA. However, the T-insertion/deletion polymorphism did not affect FADS2 promoter activity in luciferase reporter assays in HepG2 or NIH/3T3 cells. Our results indicate that the polymorphism rs3834458 does not appear to directly affect FADS2 promoter activity and is not responsible for a previously reported Δ6-desaturase deficiency. | - |
dc.description.statementofresponsibility | Melissa K Gregory, Susan E Lester, Rebecca J Cook-Johnson, Robert A Gibson, Susanna M Proudman, Leslie G Cleland and Michael J James | - |
dc.language.iso | en | - |
dc.publisher | Nature Publishing Group | - |
dc.rights | © 2011 Macmillan Publishers Limited. All rights reserved. | - |
dc.source.uri | http://dx.doi.org/10.1038/ejhg.2011.104 | - |
dc.subject | FADS2 promoter | - |
dc.subject | polymorphism | - |
dc.subject | polyunsaturated fatty acids | - |
dc.subject | Δ6-desaturase | - |
dc.title | Fatty acid desaturase 2 promoter mutation is not responsible for Δ6-desaturase deficiency | - |
dc.title.alternative | Fatty acid desaturase 2 promoter mutation is not responsible for Delta6-desaturase deficiency | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1038/ejhg.2011.104 | - |
dc.relation.grant | ARC | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Gregory, M. [0000-0002-6538-6720] | - |
dc.identifier.orcid | Lester, S. [0000-0003-3013-2701] | - |
dc.identifier.orcid | Gibson, R. [0000-0002-8750-525X] | - |
dc.identifier.orcid | Proudman, S. [0000-0002-3046-9884] | - |
dc.identifier.orcid | James, M. [0000-0002-4918-2998] | - |
Appears in Collections: | Aurora harvest 5 Medicine publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.