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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  (OR = 0.55, 95% CI = 0.42–0.72,  p   FDR   < 0.05) between autistic children and controls.  FADS2 rs526126  and  ELOVL2 rs10498676  were associated with decreased ASD risk in recessive model (OR = 0.07, 95% CI = 0.02–0.22,  p   FDR   < 0.01; OR = 0.56, 95% CI = 0.35–0.89,  p   FDR   = 0.042), while  ELOVL2 rs17606561 ,  rs3756963 , and  rs9468304  were associated with increased ASD risk in overdominant model (OR = 1.63, 95% CI = 1.12–2.36,  p   FDR   = 0.036; OR = 1.64, 95% CI = 1.14–2.37,  p   FDR   = 0.039; OR = 1.75, 95% CI = 1.22–2.50,  p   FDR   = 0.017). 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.    Electronic supplementary material  The online version of this article (10.1186/s12888-018-1868-7) contains supplementary material, which is available to authorized users.

FADS1-FADS2 and ELOVL2 gene polymorphisms in susceptibility to autism spectrum disorders in Chinese children