Relevance to Autism

The non-coding RNA transcript RPS10P2-AS1 is located in an intron of the MACROD2 gene and resides 9 kb from rs4141463, a SNP for which the C allele has been shown to associate with ASD in a genome-wide association study (Anney et al., 2010) and in a German case-control cohort (Curran et al., 2011), as well as with autistic-like traits in the general population (Jones et al., 2014). Bilinovich et al., 2019 demonstrated that expression of RPS10P2-AS1 was increased in postmortem temporal cortex from individuals with ASD (P = 0.02) and that the rs4141463 C/C genotype was associated with a significantly higher expression of RPS10P2-AS1 than the T/T genotype; conversely, there was no significant change in MACROD2 expression in postmortem brain tissue in ASD individuals, and there was no correlation between rs4141463 gentoype and MACROD2 expression.

Molecular Function

External Links

References