PHOSPHO1 and Obesity Disorder

PHOSPHO1 (HGNC:16815) has emerged from large-scale bivariate genome‑wide association studies as one of several genes nominally associated with obesity disorder (MONDO_0011122). In a study of Northern Han Chinese twins, gene‑based analysis and expression quantitative trait loci (eQTL) assessments identified PHOSPHO1 among 291 nominally associated genes (PMID:29868124), while a subsequent independent bivariate GWAS in a separate twin cohort also nominated PHOSPHO1 along with other loci, further supporting an association with obesity‑related traits (PMID:33539483). Although these studies were observational and did not provide family‐based segregation data or high‑impact discrete coding variants, the statistical associations and replicated eQTL findings suggest a modest contribution to the polygenic architecture of obesity.

The current evidence is limited by the absence of definitive Mendelian segregation or clearly pathogenic variants in PHOSPHO1; however, the convergent results from multi‑patient studies provide a useful entry point for further investigative research. Key take‑home: PHOSPHO1 represents a potential genetic factor in the etiology of obesity disorder, meriting additional functional and longitudinal studies to ultimately support its integration into clinical diagnostic frameworks.

References

• Frontiers in Genetics • 2018 • Genetics of Obesity Traits: A Bivariate Genome‑Wide Association Analysis PMID:29868124
• PloS One • 2021 • Bivariate genome‑wide association study (GWAS) of body mass index and blood pressure phenotypes in northern Chinese twins PMID:33539483

Evidence Based Scoring (AI generated)