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. 2022 Sep;86(5):237-244.
doi: 10.1111/ahg.12466. Epub 2022 Mar 28.

Deleted genes associated with obesity in Mexican patients diagnosed with nonalcoholic fatty liver disease

José Francisco Zambrano-Zaragoza  1 , Alejandro Vázquez-Reyes  2 , Ma de Jesús Durán-Avelar  2 , Jorge Gutiérrez-Franco  1 , Norberto Vibanco-Pérez  2 , Juan Manuel Agraz-Cibrián  1 , Horacio Pérez-Cambero  3 , Miriam Fabiola Ayón-Pérez  2
Affiliations

Deleted genes associated with obesity in Mexican patients diagnosed with nonalcoholic fatty liver disease

José Francisco Zambrano-Zaragoza et al. Ann Hum Genet. 2022 Sep.

Abstract

Aim: Nonalcoholic fatty liver disease (NAFLD) is a complex metabolic condition in which both lifestyle and genetic factors have a pathogenic role. The LEP gene encodes leptin, which regulates appetite, body weight, and several metabolic functions. Proopiomelanocortin (POMC), regulates food intake and energy balance. The aim of the study was to determine partial or complete deletions of genes associated with obesity in patients diagnosed with NAFLD.

Material and methods: Blood samples and DNA from 43 individuals diagnosed with NAFLD by ultrasonographic technique (Fibroscan) were obtained. The partial or complete deletions of genes were determined by MLPA (Multiplex Ligation-dependent Probe Amplification) using the SALSA probemix P220-B2 Obesity only on 43 individuals. Fifty blood samples from healthy individuals were included.

Results: Eleven out of 43 individuals analyzed by MLPA presented some deletion of the genes analyzed: six were female and five were male. The partial or complete deletion of the LEPR and POMC genes was observed in eight patients (18.6%), SIM1 in six patients (13.9%), GRIK2 and SH2B1 in two patients (4.7%), SEZGL2 in four patients (9.3%), and MCR4 in one patient (2.3%).

Conclusion: Partial deletion was observed in LEPR, POMC, SIM1, GRIK2, SH2B1, SEZGL2, and MCR4 genes in 26% of the cases, and we suggest that these alterations probably has a potential relationship for the development of NAFLD.

Keywords: LEP; Nonalcoholic fatty liver disease; POMC; obesity.

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