GPATCH1, a G-patch family protein, is involved in pre-mRNA splicing and has been associated with multiple biological processes and diseases. It plays a role in maintaining spliceosome fidelity by recognizing aberrant 5' splice site conformations and recruiting DHX35 helicase to dissociate the U2/branch site helix, priming spliceosomes bound to aberrant substrates for disassembly [1,6]. It also suppresses the usage of weak nearby cryptic/alternative splice sites, promoting splicing fidelity [2].

Genome-wide association studies have linked GPATCH1 to several diseases. SNPs in GPATCH1 are associated with colorectal cancer in Taiwanese populations [3]. In Japanese women with osteoporosis, a SNP in GPATCH1 (rs10416265) is associated with vertebral fracture prevalence, and a genetic risk score including this SNP can help identify at-risk individuals [4]. In a genome-wide association study of indigenous chicken in Rwanda, GPATCH1 was identified near SNPs associated with body weight [5]. Additionally, GPATCH1 has been identified as a novel candidate gene in congenital heart disease through single-cell reconstruction and mutation enrichment analysis [7].

In conclusion, GPATCH1 is an important gene in maintaining splicing fidelity. Its association with diseases such as colorectal cancer, osteoporosis, and congenital heart disease, as revealed through genetic association studies, highlights its significance in understanding the molecular mechanisms of these diseases. Research on GPATCH1 provides insights into disease-related biological processes and may potentially contribute to the development of preventive and therapeutic strategies.