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The prevalence of eight single nucleotide variations in overweight and obese participants
Dissertation (MSc)--University of Pretoria, 2018.
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| Format: | Thesis |
| Language: | English |
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University of Pretoria
2019
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| _version_ | 1867613525660139520 |
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| access_status_str | Open Access |
| author2 | Marais, Andre |
| author_browse | Marais, Andre |
| author_facet | Marais, Andre |
| collection | Thesis |
| dc_rights_str_mv | © 2019 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. |
| description | Dissertation (MSc)--University of Pretoria, 2018. |
| format | Thesis |
| id | oai:repository.up.ac.za:2263/69990 |
| institution | University of Pretoria (South Africa) |
| language | English |
| last_indexed | 2026-06-10T12:37:32.074Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UPSpace — University of Pretoria Institutional Repository |
| publishDate | 2019 |
| publishDateRange | 2019 |
| publishDateSort | 2019 |
| publisher | University of Pretoria |
| publisherStr | University of Pretoria |
| record_format | dspace |
| source_str | UPSpace — University of Pretoria Institutional Repository |
| spelling | oai:repository.up.ac.za:2263/69990 The prevalence of eight single nucleotide variations in overweight and obese participants Marais, Andre bianca.sansom86@gmail.com North, C.J. Sansom, Bianca UCTD Single nucleotide polymorphism (SNP) Genetic predisposition Leptin receptor (LEPR) Dopamine receptor genes Obesity Overweight Health sciences theses SDG-02 Health sciences theses SDG-03 Health sciences theses SDG-10 Dissertation (MSc)--University of Pretoria, 2018. Introduction Obesity is a growing epidemic not just nationally but worldwide and is responsible for a substantial economic burden in both developed and developing countries. Obesity is a major risk factor for type 2 diabetes, cardiovascular disease, some types of cancer and premature death. It has long been known that there is a genetic link to the complex nature of obesity that has both an environmental and psychological link to it. Neurotransmitters in the brain’s reward cascade regulate the feeling of satiety and food cravings, which are associated with behaviours such as overeating and binge eating. The aim of the study was to investigate the prevalence of eight single nucleotide variations (SNVs) associated with the regulation of the brain reward system and have been linked to addictive behaviour and food cravings in an attempt to assess a causal relationship with overweight and obese individuals. Methods A total of 247 DNA buccal samples were collected from willing participants. Of the 247 DNA samples collected 223 were analysed, based on the inclusion and exclusion criteria. Of the 223 samples collected 107 participants were of normal weight and 116 were either overweight or obese (class I-III). The TaqMan® OpenArray™ Genotyping platform was utilised to genotype the 223 samples across eight SNVs, namely; SLC6A4 (rs25531) which encodes for a monoamine transporter protein that transports serotonin from the synaptic cleft to the presynaptic neuron, HTR2C (rs3813926) encodes the G-protein coupled receptor that regulates excitatory neurotransmitters, OPRM1 (rs1799971) provides the instruction for making the mu opioid receptor protein which regulates pain, reward and addictive behaviours, GABRA6 (rs3219151) encodes for Gamma-aminobutyric acid receptor subunit alpha-6 that functions as an inhibitory neurotransmitter, DRD2 (rs1800497) encodes the D2 subtype of the dopamine receptor which is a G-protein coupled receptor that inhibits adenylyl cyclase activity, DRD4 (rs1800955) similarly encodes the D4 subtype of the dopamine receptor, COMT (rs4680) provides the instruction for making catechol-O-methyltransferase, an enzyme that controls the levels of certain hormones and LEPR (rs1137101) encodes for the Leptin receptor protein, which is involved in the regulation of body weight. Results The AG genotype for the Leptin Receptor (LEPR) gene was found to be more prevent in overweight and obese individuals, odds ratio 2.63 [95% CI = 1.13; 6.13]. None of the other SNVs showed any significant association. Upon more stringent review of the study, it was discovered that bias was introduced in several ways, including design, sampling, statistical, procedure and measurement bias. Conclusion Although the sample size was statistically determined, it was too small to draw any cause and effect relationship. There was also limited ethnic diversity in the samples collected. The sample size thus decreased the statistical power of the analysis. Obesity is a complex disease, with both genetic and environmental factors need to be taken into account. The lack of environmental and/or lifestyle information of participants narrowed the interpretation of the results. Obtaining the medical history and lifestyle information of participants could have been beneficial at presenting daily challenges or stressor that participant may experience that could affect their weight management. This essentially could have shed light on the genotype discrepancies observed. The fact that an individual’s current BMI score is regarded as normal does not eliminate the potential that they struggle with their weight, or have struggled with their weight during their life. The lifestyle information could have changed the classification of the participant’s risk, in terms of obesity risk. em2026 Pharmacology MSc Unrestricted SDG-02: Zero hunger SDG-03: Good health and well-being SDG-10: Reduced inequalities 2019-06-02T11:39:39Z 2019-06-02T11:39:39Z 2019/04/05 2018 Dissertation Sansom, B 2018, The prevalence of eight single nucleotide variations in overweight and obese participants, MSc Dissertation, University of Pretoria, Pretoria, viewed yymmdd <http://hdl.handle.net/2263/69990> A2019 http://hdl.handle.net/2263/69990 en © 2019 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. application/pdf University of Pretoria |
| spellingShingle | UCTD Single nucleotide polymorphism (SNP) Genetic predisposition Leptin receptor (LEPR) Dopamine receptor genes Obesity Overweight Health sciences theses SDG-02 Health sciences theses SDG-03 Health sciences theses SDG-10 The prevalence of eight single nucleotide variations in overweight and obese participants |
| title | The prevalence of eight single nucleotide variations in overweight and obese participants |
| title_full | The prevalence of eight single nucleotide variations in overweight and obese participants |
| title_fullStr | The prevalence of eight single nucleotide variations in overweight and obese participants |
| title_full_unstemmed | The prevalence of eight single nucleotide variations in overweight and obese participants |
| title_short | The prevalence of eight single nucleotide variations in overweight and obese participants |
| title_sort | prevalence of eight single nucleotide variations in overweight and obese participants |
| topic | UCTD Single nucleotide polymorphism (SNP) Genetic predisposition Leptin receptor (LEPR) Dopamine receptor genes Obesity Overweight Health sciences theses SDG-02 Health sciences theses SDG-03 Health sciences theses SDG-10 |
| url | http://hdl.handle.net/2263/69990 |