Aliases: PMSR
Chromosome No: 8
Chromosome Band: 8p23.1
Genetic Category: Genetic association--Functional-Rare single gene variant
ASD Reports: 13
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 9
Evidence score: 2
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Relevance to Autism
A transcriptome-wide association study (TWAS) of 7,805 ASD proband-parent trios, which was subsequently replicated using 35,740 independent samples, using eQTL and splicing quantitative trait loci in 12 brain tissues from GTEx and the CommonMind Consortium (CMC) in Huang et al., 2021 identified MSRA as a gene whose transcriptome-wide association with ASD remained significant after a stringent Bonferroni correction for all genes and all tissues in the analysis (meta-analysis P-value 2.05E-07 in CMC DLPFC-splicing tissue). MSRA had previously been identified in Grove et al., 2019 as a gene that remained significant after Bonferroni correction following MAGMA gene-based association from the iPSYCH-PGC ASD meta analysis (P-value 1.63E-02). MSRA has been reported in several genome-wide meta-analyses as a candidate gene for schizophrenia (Goes et al., 2015; Li et al., 2017; Ikeda et al., 2018; Lam et al., 2019), while other association studies have identified MSRA as a candidate gene for bipolar disorder (Stahl et al., 2019), neuroticism (Fan et al., 2017; Nagel et al., 2018), and insomnia (Lane et al., 2019).
Molecular Function
This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity.
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