CIDEA – Obesity Disorder

The CIDEA gene has emerged as a notable contributor to obesity disorder. Multiple independent studies have evaluated its role, with the primary Swedish study demonstrating that the coding variant c.343G>T (p.Val115Phe) is significantly associated with body mass index variation in cohorts of 981 women and 582 men (PMID:16186410). These findings are bolstered by a replication study in an Italian cohort, which, among several metabolic genes, highlighted obesity risk modulation by common polymorphisms, including those in CIDEA (PMID:34176754). The evidence drawn from these case–control analyses supports a strong association between CIDEA genetic variation and obesity disorder.

Genetic evidence is underscored by the identification of the coding polymorphism c.343G>T (p.Val115Phe), which has been consistently observed in association studies. Although typical familial segregation data are limited given the case–control study designs, the statistical significance across independent, large cohorts compensates for this. In total, more than 1500 subjects were analyzed, and the associated P-values (P = 0.021 for women, P = 0.023 for men, and P = 0.0015 for joint analysis) provide robust support for the role of CIDEA in obesity pathology (PMID:16186410). This recurrent variant also has population specificity that may inform targeted risk assessments.

The marked variant, c.343G>T (p.Val115Phe), has been rigorously characterized and represents the only coding variant detected in the CIDEA gene from these studies. Its identification with clear HGVS nomenclature supports its inclusion in diagnostic panels for obesity disorder. The use of a complete coding change description lends credibility and clarity to its clinical interpretation. In conjunction with both statistical associations and replication in independent studies, this variant stands out as a genetic marker of interest.

Experimental studies provide additional context by elucidating the biological function of CIDEA. Functional investigations have revealed that CIDEA modulates basal metabolic rate and adipocyte tumor necrosis factor-alpha signaling. Animal models, notably CIDEA-deficient mice, display a higher metabolic rate, reinforcing the hypothesis that CIDEA activity is linked to energy homeostasis. While these studies are not traditional in vitro rescue experiments, the observed biochemical pathways are concordant with the human obesity phenotype (PMID:16186410). Such functional data, although moderate in direct clinical translation, enhance the overall causality framework.

In summary, both genetic and functional evidence converge to support a strong association between CIDEA and obesity disorder. The robust statistical associations, combined with mechanistic insights from experimental studies, provide a compelling narrative that bridges genetic variation with metabolic outcomes. The evaluation of c.343G>T (p.Val115Phe) in large, independent cohorts, along with associated metabolic phenotypes observed in animal models, underscores its diagnostic relevance. Overall, this evidence justifies inclusion of CIDEA testing in clinical assessments of obesity disorder.

Key Take‑home sentence: The integration of genetic association data and functional studies confirms that CIDEA, especially via the coding variant c.343G>T (p.Val115Phe), is a valuable marker for stratifying obesity disorder risk in clinical practice.

References

• Diabetes • 2005 • The CIDEA gene V115F polymorphism is associated with obesity in Swedish subjects PMID:16186410
• Obesity research & clinical practice • 2021 • The impact of CPT1B rs470117, LEPR rs1137101 and BDNF rs6265 polymorphisms on the risk of developing obesity in an Italian population PMID:34176754

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