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Prevalence of genetic causes of obesity in clinical practice.
Tamaroff, Jaclyn; Williamson, Dylan; Slaughter, James C; Xu, Meng; Srivastava, Gitanjali; Shoemaker, Ashley H.
Afiliação
  • Tamaroff J; Division of Pediatric Endocrinology and Diabetes Vanderbilt University Medical Center Nashville Tennessee USA.
  • Williamson D; Division of Pediatric Endocrinology and Diabetes Vanderbilt University Medical Center Nashville Tennessee USA.
  • Slaughter JC; Department of Biostatistics Vanderbilt University Medical Center Nashville Tennessee USA.
  • Xu M; Department of Biostatistics Vanderbilt University Medical Center Nashville Tennessee USA.
  • Srivastava G; Division of Diabetes, Endocrinology, and Metabolism Vanderbilt University Medical Center Nashville Tennessee USA.
  • Shoemaker AH; Division of Pediatric Endocrinology and Diabetes Vanderbilt University Medical Center Nashville Tennessee USA.
Obes Sci Pract ; 9(5): 508-515, 2023 Oct.
Article em En | MEDLINE | ID: mdl-37810530
ABSTRACT

Background:

While obesity is common in the United States, monogenic obesity is rare, accounting for approximately 5% of individuals with obesity. New targeted therapies for genetic forms of obesity are available but there is limited guidance on who requires testing. The aims of this study were to evaluate the prevalence of potentially clinically significant variants among individuals in Pediatric Endocrinology or Medical Weight Center clinics at a single center and to identify clinical characteristics that may make genetic obesity more likely.

Methods:

Children and adults who had a genetic test for obesity, Uncovering Rare Obesity Gene panel, ordered during routine clinic visits from December 2019 to March 2021 were identified.

Results:

Of the 139 patients with testing ordered, 117 had available results and clinical data. Over 40% (52/117, 44%) had at least one positive result (variant) with a variant that is considered pathogenic, likely pathogenic, or a variant of uncertain significance. No association was detected between age, sex, race, and body mass index (BMI) or BMI z-score with a variant. Twenty-six individuals (22%) had one or more variants in genes associated with Bardet Biedl Syndrome, and 8 (6.8%) of them had pathogenic variants, higher than expected.

Conclusion:

Overall, clinical suspicion for genetic obesity is important in determining who requires genetic testing but no clinical factors were found to predict results. While obesity is multifactorial, novel medications for genetic forms of obesity indicate the need for evidence-based guidelines for who requires genetic testing for obesity.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Guideline / Prevalence_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Obes Sci Pract Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Guideline / Prevalence_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Obes Sci Pract Ano de publicação: 2023 Tipo de documento: Article