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

IF 1 4区生物学 Q4 GENETICS & HEREDITY

Annals of Human Genetics Pub Date : 2022-03-28 DOI:10.1111/ahg.12466

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

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引用次数: 0

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.

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墨西哥非酒精性脂肪肝患者中与肥胖相关的缺失基因

非酒精性脂肪性肝病(NAFLD)是一种复杂的代谢疾病，生活方式和遗传因素都有致病作用。LEP基因编码瘦素，瘦素调节食欲、体重和几种代谢功能。proopiomanocortin (POMC)，调节食物摄入和能量平衡。该研究的目的是确定NAFLD患者中与肥胖相关的基因部分或完全缺失。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Human Genetics 生物-遗传学

CiteScore

4.20

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.