Association of Granzyme B Gene Polymorphism with Autism Spectrum Disorder in Northeast Han Chinese Population

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.

This study aimed to investigate the association between ASD and GZMB polymorphism in the northeast Han Chinese population.

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).

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).

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.