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SDC3 – Obesity Disorder

Recent genetic association studies in East Asian cohorts have indicated a statistically significant correlation between variants in SDC3 and obesity disorder (PMID:27515755; PMID:17018662). In the Taiwanese study, a significant positive correlation was observed between the SDC3 rs2282440 genotype and obesity, with associations to larger waist and hip circumferences, while a Korean population study independently confirmed strong associations with two non‐synonymous SDC3 variants.

The genetic evidence stems from robust case–control analyses where obesity cases were contrasted with non‑obese individuals. These studies reported associations with missense variants in SDC3, including the variant c.986C>T (p.Thr329Ile), lending support to the notion that common variations in SDC3 contribute to obesity risk (PMID:17018662). Despite modest sample sizes, the replication across different East Asian cohorts highlights the potential importance of SDC3 in obesity predisposition.

Given the complex etiology of obesity disorder, no classical Mendelian inheritance pattern can be established. The absence of familial segregation data further underscores the multifactorial nature of the condition. Instead, these association studies imply a role for SDC3 variants as susceptibility factors, rather than deterministic causes.

While the genetic association is statistically significant, functional evidence directly connecting SDC3 to the pathogenic mechanisms of obesity remains limited. No experimental studies have yet shown how SDC3 variants affect protein function or signaling pathways relevant to energy balance and adiposity in the context of obesity.

Taken together, the evidence suggests that SDC3 (HGNC:10660) is modestly associated with obesity disorder (MONDO_0011122). The replicated genetic findings support its candidacy as a risk marker, even though further functional studies are warranted to elucidate the molecular mechanisms involved.

Key Take‑home Sentence: SDC3 serves as a promising genetic marker for obesity disorder risk, meriting additional experimental research to establish its diagnostic and therapeutic potential.

References

  • BMJ Open • 2016 • Study of seven single‑nucleotide polymorphisms identified in East Asians for association with obesity in a Taiwanese population PMID:27515755
  • The Journal of Clinical Endocrinology and Metabolism • 2006 • Positive association of obesity with single nucleotide polymorphisms of syndecan 3 in the Korean population PMID:17018662

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Association studies in Taiwanese (PMID:27515755) and Korean (PMID:17018662) populations demonstrated a statistically significant correlation between SDC3 variants and obesity disorder, though lacking segregation data and robust experimental validation.

Genetic Evidence

Moderate

Two independent case–control studies demonstrate significant associations with obesity, with missense variants including c.986C>T (p.Thr329Ile) contributing to the risk profile.

Functional Evidence

Limited

No direct functional assays have been reported linking SDC3 to obesity disorder, limiting experimental support for a pathogenic mechanism.