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Type: Journal article
Title: Fatty acid desaturase 2 promoter mutation is not responsible for Δ6-desaturase deficiency
Other Titles: Fatty acid desaturase 2 promoter mutation is not responsible for Delta6-desaturase deficiency
Author: Gregory, M.
Lester, S.
Cook-Johnson, R.
Gibson, R.
Proudman, S.
Cleland, L.
James, M.
Citation: European Journal of Human Genetics, 2011; 19(11):1202-1204
Publisher: Nature Publishing Group
Issue Date: 2011
ISSN: 1018-4813
Statement of
Melissa K Gregory, Susan E Lester, Rebecca J Cook-Johnson, Robert A Gibson, Susanna M Proudman, Leslie G Cleland and Michael J James
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.
Keywords: FADS2 promoter; polymorphism; polyunsaturated fatty acids; Δ6-desaturase
Rights: © 2011 Macmillan Publishers Limited. All rights reserved.
RMID: 0020114425
DOI: 10.1038/ejhg.2011.104
Appears in Collections:Medicine publications

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