Association of Granzyme B gene polymorphism with autism spectrum disorder in northeast Han Chinese population

Abstract EN

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.