Document Type : Research articles


Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun, China


Background: Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder. Several susceptibility genes were found in the genome-wide study of ASD. There are few reports of the association between granzyme B (GZMB) and ASD.
Objectives: This study aimed to investigate the association between ASD and GZMB polymorphism in the northeast Han Chinese population.
Methods: A case-control study was conducted in Changchun city, a northeast city of China, from June 2014 to November 2014. We enrolled 268 Han population Chinese children in a case-control study, including 85 ASD patients and 183 healthy controls. We also recruited 67 nuclear family trios. Three single-nucleotide polymorphisms (SNPs) (rs2236338, rs10873219, and rs8192917) were selected and genotyped. The association between the GZMB SNPs and ASD was analyzed using the Transmission Disequilibrium Test (TDT).
Results: No statistical differences were found in allele and genotype frequency of the three SNPs of the GZMB gene between the case and control groups (all P > 0.05). Our study showed that rs2236338-rs10873219-rs8192917 G-T-G (P = 0.41) and G-G-G (P = 0.59) haplotypes were not associated with ASD. Moreover, TDT showed negative results (P = 0.885 for rs2236338, P = 0.900 for rs10873219, and P = 0.900 for rs8192917).
Conclusions: There was no association between the three SNPs in GZMB and ASD. Further studies need to determine and verify the relationship between the GZMB gene and ASD.