Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia

Rebecca Mar-Heyming, Makoto Miyazaki, Daphna Weissglas-Volkov, Nicholas A. Kolaitis, Narimaan Sadaat, Christopher Plaisier, Päivi Pajukanta, Rita M. Cantor, Tjerk W.A. De Bruin, James M. Ntainbi, Aidons J. Lusis

Research output: Contribution to journalArticlepeer-review

54 Scopus citations


Objective -Stearoyl-CoA desaturase 1 (SCDl) is the rate-limiting enzyme involved in the synthesis of monounsaturated fatty acids, and in mice SCDl activity is associated with plasma triglyceride levels. We used the fatty acid desaturation index (the plasma ratio of 18:1/18:0) as a marker of SCDl activity to investigate the relationship of SCDl to familial combined hyperlipidemia (FCHL). Methods and Results-The fatty acid desaturation index was measured in 400 individuals from 18 extended FCIIL pedigrees. FCHL-affected individuals exhibited increased SCDl activity when compared to unrelated controls OP<0.0001). The fatty acid desaturation index was found to be highly heritable (h 2=0.48, P=2.2X10 -11) in this study sample. QTI.. analysis in 346 sibling pairs from. 18 FCHL families revealed suggestive linkage of the desaturation index to chromosomes 3p26.1 to 3pl.3 (z=2.7, /°=0.003), containing the peroxisome proliferator-activated receptor gamma (PPAR?) gene, and 20pl 1.21 to 20ql3.32 (z=l,7, P=OM), containing the hepatocyte nuclear factor 4, alpha (HNF4a) gene. A specific haplotype of HNF4a was found to be associated with the desaturation index in these FCHL families (P=0.002). Conclusion-Our results demonstrate that the fatty acid desaturation index is a highly heritable trait that is associated with the dyslipidemia observed in FCHL.

Original languageEnglish (US)
Pages (from-to)1193-1199
Number of pages7
JournalArteriosclerosis, thrombosis, and vascular biology
Issue number6
StatePublished - Jun 1 2008
Externally publishedYes


  • Familial combined hyperlipidemia
  • Genetics
  • Hepatocyte nuclear factor 4 alpha
  • Peroxisome proliferator-activated receptor gamma
  • Stearoyl-coa desaturase

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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