[No authors listed]
BACKGROUD:Autism spectrum disorders (ASD) are a complex group of neurodevelopmental disorders with a genetic basis. The role of long-chain polyunsaturated fatty acids (LC-PUFAs) and the occurrence of autism has been the focus of many recent studies. The present study investigates whether genetic variants of the fatty acid desaturase (FADS) 1/2 and elongation of very long-chain fatty acids protein (ELOVL) 2 genes, which are involved in LC-PUFA metabolism, are associated with ASD risk. METHODS:A cohort of 243 ASD patients and 243 unrelated healthy controls were enrolled in this case control study. Sixteen tag single nucleotide polymorphisms from the FADS1-2 and ELOVL2 genes were genotyped using the Sequenom Mass Array. RESULTS:There were significant differences in allelic distribution of FADS2 rs526126 (ORâ=â0.55, 95% CIâ=â0.42-0.72, pFDRÂ <â0.05) between autistic children and controls. FADS2 rs526126 and ELOVL2 rs10498676 were associated with decreased ASD risk in recessive model (ORâ=â0.07, 95% CIâ=â0.02-0.22, pFDRâ<â0.01; ORâ=â0.56, 95% CIâ=â0.35-0.89, pFDRâ=â0.042), while ELOVL2 rs17606561, rs3756963, and rs9468304 were associated with increased ASD risk in overdominant model (ORâ=â1.63, 95% CIâ=â1.12-2.36, pFDRâ=â0.036; ORâ=â1.64, 95% CIâ=â1.14-2.37, pFDRâ=â0.039; ORâ=â1.75, 95% CIâ=â1.22-2.50, pFDRâ=â0.017). The A/A genotype of rs10498676 was correlated with a decline in the Autism Diagnostic Interview-Revised communication (verbal and nonverbal) domain. CONCLUSIONS:These findings provide evidence of an association between FADS2 and ELOVL2 polymorphisms and ASD susceptibility in Chinese children.
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