Cardiovascular Risk and Diseases in Patients With and Without Leptin-Melanocortin Pathway Variants

Cifuentes, Lizeth; Campos, Alejandro; Sacoto, Daniel; Ghusn, Wissam; Rosa, Alan De la; Feris, Fauzi; Mcrae, Alison; Bublitz, Joshua T.; Hurtado, Maria D.; Olson, Janet E.; Acosta, Andrés

doi:10.1016/j.mayocp.2022.10.028

Cited by 5 publications

(2 citation statements)

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“…A total of 30 genes previously related to the leptin-melanocortin pathway were sequenced by Sema4 Laboratories (Stamford, Connecticut) and have been detailed elsewhere. [8][9][10] The study was approved by the institutional review board of Mayo Clinic (18-010159). All participants provided prior written authorization for research use of their medical records and biologic samples, including use for genotyping studies.…”

Section: Methodsmentioning

confidence: 99%

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Leptin‐Melanocortin pathway variants and gastric emptying in patients with obesity

Cifuentes,

Ghusn,

Campos

et al. 2024

Neurogastroenterology Motil

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BackgroundAccelerated gastric emptying (GE) is a trait seen in obesity. Mutations in the hypothalamic leptin‐melanocortin 4 receptor (Leptin‐MC4R) pathway have been associated with obesity. We sought to investigate the association of leptin‐MC4R pathway variants and GE in patients with obesity.MethodsThis is a cross‐sectional study of patients with a history of severe obesity that were genotyped and completed a GE test by scintigraphy. We evaluated the percentage of GE (GE %) at 2 and 4 h between both groups using ANCOVA with weight and sex as covariates. We subdivide patients into carriers based on the location of the identified variants (i.e., upstream or downstream of the Leptin‐MC4R pathway) and compared them with noncarriers using ANOVA. Results are presented as mean and standard deviation (± SD).Key ResultsA total of 95 patients; nine carriers (67% females; 39.78 ± 12.33 years; BMI: 49.14 ± 12.96 kg/m2) and 86 noncarriers (87% female; 49.98 ± 13.74 years; BMI: 40.75 ± 6.29 kg/m2) were included. At 2 and 4 h, carriers had a delayed GE when compared noncarriers (p = 0.03 and p = 0.005, respectively). In carriers, when compared upstream carriers vs. downstream carriers vs. noncarriers by location there was a significant difference in GE among groups at 2 h and at 4 h (p = 0.02 and p = 0.01, respectively).Conclusions & InferencesCarriers of heterozygous variants in the Leptin‐MC4R pathway had a delayed GE compared to noncarriers. These findings point the important relationship between the Leptin‐MC4R pathway and gastric motility.

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Section: Methodsmentioning

confidence: 99%

“…A total of 30 genes previously related to the leptin‐melanocortin pathway were sequenced by Sema4 Laboratories (Stamford, Connecticut) and have been detailed elsewhere 8–10 . The study was approved by the institutional review board of Mayo Clinic (18–010159).…”

Section: Methodsmentioning

confidence: 99%