The effect of FADS2 gene rs174583 polymorphism on desaturase activities, fatty acid profile, insulin resistance, biochemical indices, and incidence of type 2 diabetes

Leila Mazoochian, Hamid Mir Mohammad Sadeghi, Morteza Pourfarzam


Background: In this study, we investigated the associations of erythrocytes fatty acid composition, activities of delta?5 desaturase (D5D) and delta?6 desaturase (D6D), and other metabolic risk factors, with type 2 diabetes (T2D) risk to determine if rs174583 polymorphism of FADS2 gene had any e?ect on these associations. Materials and Methods: Fatty acid profle of  erythrocytes was determined using gas chromatography?mass spectrometry in 95 T2D patients and 95 apparently healthy participants. Te genotypes
of single?nucleotide polymorphism (SNP) of FADS2 gene were determined using the polymerase chain reaction?restriction fragment length  olymorphism technique. Other biochemical parameters were measured in the serum using standard analytical procedures. Results: D6D activity was increased (P < 0.001) and D5D activity was decreased in T2D patients (P < 0.001) compared to controls. Homeostatic model assessment insulin resistance (HOMA?IR) index was positively correlated with D6D (r = 0.34, P < 0.001) and negatively correlated with D5D (r = -0.19, P = 0.02). Palmitic acid (P < 0.001) and dihomo?gamma?linolenic acid (P = 0.03) were
higher and linoleic acid (P < 0.001) and arachidonic acid (AA) (P < 0.001) were lower in T2D patients. Te distribution of rs174583 genotypes which includes C/T, C/C, and T/T was not di?erent in the two groups (P = 0.63). Conclusions: In the population studied, there was a strong association in the erythrocytes fatty acid composition, D5D and D6D activities and other metabolic risk factors between non?T2D and T2D patients. In addition, there was a strong association in erythrocytes DGLA and AA contents and D5D activities between rs174583 genotypes in all participants. However, the distribution of rs174583 genotypes did not di?er signifcantly between T2D patient and controls, and it did not appear to be an association between rs174583 SNP and incident of T2D.


Fatty acid desaturase, fatty acid profle, single?nucleotide polymorphism, type 2 diabetes

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