AP3S2 – Obesity Disorder

Current evidence from multi‐patient studies suggests a limited association between AP3S2 (HGNC:571) and obesity disorder (MONDO_0011122). Two independent studies in Pakistani cohorts have included AP3S2 in their gene score analyses for obesity, where a total of 475 subjects were genotyped (PMID:26395551) and associations with obesity were observed through aggregate risk allele profiling (PMID:30021629). However, no specific AP3S2 variant with a complete coding change (e.g. one with a validated HGVS description) was reported, and the data are limited to statistical associations rather than robust segregation or functional corroboration.

In summary, while AP3S2 emerges as a candidate through inclusion in polygenic risk evaluations, the genetic and functional evidence remains quantitatively modest. The lack of individual variant reports and dedicated functional assays leaves the mechanistic underpinning unclear. Additional large‐scale studies and experimental evaluations are warranted to further delineate its role and confirm its clinical utility in obesity disorder.

References

• European journal of human genetics • 2016 • Effect of six type II diabetes susceptibility loci and an FTO variant on obesity in Pakistani subjects PMID:26395551
• Lipids in health and disease • 2018 • Use of a gene score of multiple low‑modest effect size variants can predict the risk of obesity better than the individual SNPs PMID:30021629

Evidence Based Scoring (AI generated)