Poster Topical Area: Energy and Macronutrient Metabolism

Location: Hall D

Poster Board Number: 442

P10-042 - A regulatory insertion-deletion polymorphism in FADS gene cluster determines PUFA synthesis and influences lipid profiles

Monday, Jun 11
8:00 AM – 3:00 PM

Objective: Fatty acid desaturase 1 (FADS1) catalyzes synthesis of omega-6 Arachidonic acid (AA) and omega-3 eicosapentaenoic acid (EPA). Polymorphism of the rs66698963, a 22-bp insertion-deletion (Indel) 137-bp downstream of a sterol response element in FADS2 intron 1, mediates expression of FADS1 in vitro, as well as exerting positive selection in several human populations. The associations between rs66698963 polymorphism and plasma PUFA, as well as disease phenotype are unclear.This study aimed to evaluate the relationship between rs66698963 genotypes and plasma PUFA levels, as well as blood lipid profiles.

The baseline plasma fatty acids were measured by gas chromatograph in a population of 1,504 healthy Chinese adults who were aged 35–59 years. Blood lipids were measured at baseline and after two years follow up. The rs66698963 genotype was determined using agarose gel electrophoresis. Linear regression and logistic regression analyses were performed to assess the association between genotype and plasma PUFA and blood lipids.

A shift from precursor to product PUFA was observed from D/D to I/D to I/I genotypes for both omega-6 PUFA and omega-3 PUFA. For I/I compared with D/D carriers, plasma levels of omega-6 AA and the ratio of AA to omega-3 EPA plus docosahexaenoic acid (DHA) were 57% and 32% higher respectively. Carriers of the deletion (D) allele of rs66698963 had higher triglycerides (TG) (β=0.029, P=0.02) and lower high-density lipoprotein cholesterol (HDL-C) (β=-0.012, P=0.02) than carriers of the insertion (I) allele.

The rs66698963 genotype controls AA and AA to EPA+DHA levels reflecting basal risk for inflammatory and related chronic disease phenotypes, and is correlated with risk of dyslipidemia.

Funding Source: The National Key Research and Development Plan (2016YFD0400200)
The 100 Talented Plan of Chinese Academy of Sciences

CoAuthors: Peiqin Li – Chinese Academy of Science

Ying Gao

Chinese Academy of Science
Shanghai, Shanghai, China (People's Republic)