Research Article
Prediction and Structural Comparison of Deleterious Coding
Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in
Human LEP Gene Associated with Obesity
Hind Bouafi,
1,2
Sara Bencheikh,
1
AL Mehdi Krami,
1
Imane Morjane,
1
Hicham Charoute,
1
Hassan Rouba,
1
Rachid Saile ,
2
Fouad Benhnini,
3
and Abdelhamid Barakat
1
1
Laboratoire de Génomique et Génétique Humaine, Institut Pasteur du Maroc, Casablanca, Morocco
2
Laboratoire Biologie et Santé, Centre de Recherche Santé et Biotechnologie, Faculté des Sciences Ben M’Sik,
Hassan II University of Casablanca, Morocco
3
Laboratoire de Signalisation cellulaire, Faculté des Sciences Meknès, Université Moulay Ismail, Morocco
Correspondence should be addressed to Abdelhamid Barakat; hamid.barakat@pasteur.ma
Received 14 May 2019; Revised 25 July 2019; Accepted 14 August 2019; Published 4 December 2019
Academic Editor: Betti Giusti
Copyright © 2019 Hind Bouafi et al. is is an open access article distributed under the Creative Commons Attribution License,
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Leptin is a peptide hormone that regulates fat stores in the body and appetite by controlling the feeling of satiety. is hormone is
secreted by the white adipose tissue and plays a role in the storage and mobilization of fatty acids. Mutations of the LEP gene have
been associated with obesity in different populations; it is a multifactorial disease that constitutes a major public health problem.
In this study, we evaluated the impact of missense SNPs in the LEP gene extracted from dbSNP using 8 computational prediction
tools. Out of the total of 4337 SNPs, 93 were nsSNPs (nonsynonymous single nucleotide polymorphisms). Among 93 nsSNPs, 12
(S46L, G59S, D61N, D100N, N103K, C117S, D76V, S88C, P90R, I95N, L161R, and R105W) variants were predicted to be the most
deleterious by prediction soſtware. On these 12 deleterious SNPs, 8 variants (S46L, G59S, D61N, D100N, N103K, C117S, L161R, and
R105W) were located in the conserved positions and showed a decrease in structure stability which was evaluated by I-Mutant and
Mupro. en, by analyzing the different interactions between different amino acids in wild and mutated proteins, we assessed the
structural impact of the deleterious modifications using the YASARA soſtware. Among 8 deleterious nsSNPs, we revealed structure
changes in the 6 variants S46L, G59S, D100N, L103K, R105W, L161R, two of which R105W, N103K were previously reported as
associated with obesity. Our study suggests 6 deleterious mutations could play an important role in contributing to human obesity
and worth to be included in association and functional studies, then may be a drug target.
1. Introduction
Metabolic syndrome (MetS) is a worldwide epidemic complex
disorder determined by a cluster of interconnected factors,
which are dyslipidemia, hypertension, and dysregulated glu-
cose homeostasis, while abdominal obesity and/or insulin
resistance (IR) are the main manifestations of the syndrome.
All of these factors increase the risk of cardiovascular athero-
sclerotic diseases and type 2 diabetes mellitus [1]. Most of the
epidemiological studies show that MetS’s prevalence ranges
between 20% and 45% of the population [2].
Abdominal obesity has indeed recently gained increasing
and special attention as the most prevalent manifestation of
metabolic syndrome according to the National Cholesterol
Education Program Adult Treatment Panel III (NCEP-ATPIII)
and the International Diabetes Federation (IDF) [3]. Moreover,
in 2016, the number of overweight people reached as high as
1.9 billion adults worldwide of whom more than 650 million
were obese [4].
e imbalance between caloric consumption and energy
expenditure mainly characterizes obesity, which is defined,
according to the World Health Organization by the calculation
of the body mass index (BMI) determined by the following
formula: weight in kilograms/height in meters 2, as well as by
measuring waist circumference. Indeed, a BMI of 30 or more
and a waist circumference greater than 80 cm in women and
94 cm in men indicate obesity [5]; furthermore, it becomes
morbid when the BMI value exceeds 40 [4].
Hindawi
BioMed Research International
Volume 2019, Article ID 1832084, 10 pages
https://doi.org/10.1155/2019/1832084