Objectives: Our present study is to investigate if there is any significant change in the TPH1 gene with individuals with ASD in the Indian population through genetic approach and also to compare our findings with the earlier reports.
Methods: 486 subjects comprising 113 trios and 16 duo families with ASD along with 1 single, and 114 ethnically matched healthy controls (without any known neurological abnormalities) from West Bengal, India, were selected. Diagnosis was carried out using DSM-IV criteria while CARS was used for assessment. Genotyping was performed with PCR-RFLP and PCR-DNA sequencing methods to examine four SNP markers rs211106, rs684302, rs623580 and rs10488682. Cocaphase and TDTphase of UNPHASED version 2.404 were used for polulation based case-control as well as family based association tests.
Results: Population based case-control and family based TDT/HHRR analyses do not indicate any risk allele for the disorder. However, case-control haplotype analysis showed possible involvement of rs211106 and rs684302 (LRS = 14.6; DF = 3; p = 0.0022 and global p = 0.034) which suggest possible link of TPH1 with ASD.
Conclusions: Our data suggest that TPH1 is likely to involve in platelet hyperserotonemia of ASD in the Indian population and thereby pathophysiology of the disorder.