rs4141463

This comprehensive review examines the genetic architecture of autism spectrum disorder (ASD), synthesizing research on risk genes, genetic variants, and signaling pathways. The paper discusses common variants linked at 5p14.1 and 5p15.2 loci (including rs4141463 at 20p12.1), copy number variations, rare mutations in syndromic autism genes, and the molecular mechanisms involving neuronal activity, synaptic plasticity, and key signaling pathways (Wnt, mTOR, BDNF, ERK/MAPK) that contribute to ASD pathophysiology. The authors emphasize that identification of ASD risk genes and biomarkers may facilitate early diagnosis and improve clinical treatments.

A two-stage genome-wide association study (GWAS) of 315 autism spectrum disorder (ASD) cases and 1,115 controls in the Taiwanese Han population identified 7 SNPs with suggestive associations (p = 3.4-9.9 × 10⁻⁶), including variants in OR2M4 (rs10888329, rs6672981, rs4642918, rs4397683; OR = 0.55-0.56), STYK1 (rs16922945; OR = 1.86), and MNT (rs2447097, rs2447095; OR = 1.52-1.53). Fine-mapping identified associations in GLIS1 (rs12082358, rs12080993), NAALADL2 (rs3914502, rs2222447), and the GLIPR1/KRR1 region. Pathway analysis revealed olfactory and G protein-coupled receptor signaling as important for ASD etiology.