Fatty acid desaturase 2 promoter mutation is not responsible for Δ6-desaturase deficiency

Melissa K. Gregory, Susan E. Lester, Rebecca J. Cook-Johnson, Robert A. Gibson, Susanna M. Proudman, Leslie G. Cleland, Michael J. James

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1202-1204
Number of pages3
JournalEuropean Journal of Human Genetics
Volume19
Issue number11
DOIs
Publication statusPublished or Issued - Nov 2011

Keywords

  • FADS2 promoter
  • polymorphism
  • polyunsaturated fatty acids
  • Δ6-desaturase

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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