Hepatocyte growth factor (HGF) serum concentration and promoter polymorphism in risk prediction of autism spectrum disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that characterized by impairments in social communication and behavior. A number of environmental and genetic factors are suggested to be involved in the pathogenesis of ASD. Hepatocyte growth factor (HGF) is suggested to be involved in the development of ASD. HGF gene located on human chromosome 7 (7 q 21.11). HGF and its receptor, c-MET, are expressed in the nervous systems and regulate many aspects of neuronal physiology including, plasticity, dendrite maturation, and patterned connectivity. The study group consisted of 170 patients with autism, (8 ± 3.8) and 120 healthy children (6.3 ± 3.7). Genotypes and allele frequencies were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The concentration of HGF in serum was measured by enzyme-linked immunosorbent assay (ELISA). The genotype frequencies of CC, CT, and TT in children with autism were 25.71%, 52.85%, and 22.42%, respectively, and in control group were 26.66%, 68.33%, and 5%, respectively (p<0.05). The allele frequencies of C and T in children with autism were 0.52% and 0.48%, and in the control group were 0.61 and 0.39%, respectively (p<0.05). So the HGF TT genotype conferred a 4.4-fold increased risk to ASD relative to the CC genotype (OR=4.44, 95% CI=1.63 –2.41, P=0.003). HGF T allele has also conferred increased risk to ASD relative to the C allele (OR=1.42, 95%CI=01.00- 2.02, p=0.04). A significant change in serum HGF concentration in ASD patients was seen as compared to controls. It is suggested that HGF serum concentration and its genetic variation are involved in the pathophysiology of ASD.

Keywords:

Polymorphism , Promoter , HGF , Serum concentration , Autism