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|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|
|Citation:||European Journal of Human Genetics, 2011; 19(11):1202-1204|
|Publisher:||Nature Publishing Group|
|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.|
|Appears in Collections:||Medicine publications|
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