MARC details
| 000 -LEADER |
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| fixed length control field |
07216nam a22002657a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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201210b2024 a|||f bm|| 00| 0 eng d |
| 024 7# - Author Identifier |
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| Standard number or code |
0000-0002-2558-5864 |
| Source of number or code |
ORCID |
| 040 ## - CATALOGING SOURCE |
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| Original cataloging agency |
EG-CaNU |
| Transcribing agency |
EG-CaNU |
| 041 0# - Language Code |
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| Language code of text |
eng |
| Language code of abstract |
eng |
| -- |
ara |
| 082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
610 |
| 100 0# - MAIN ENTRY--PERSONAL NAME |
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| Personal name |
Mahmoud Bassyouni Elsayed Attia Abdallah |
| 245 1# - TITLE STATEMENT |
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| Title |
GENETIC RISK ANALYSIS OF METABOLIC SYNDROME IN THE EGYPTIAN POPULATION: A COMPREHENSIVE APPROACH USING ALLELE FREQUENCY INVESTIGATION AND MISSENSE3D PREDICTION |
| Statement of responsibility, etc. |
/Mahmoud Bassyouni Elsayed Attia Abdallah |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Date of publication, distribution, etc. |
2024 |
| 300 ## - PHYSICAL DESCRIPTION |
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| Extent |
59p. |
| Other physical details |
ill. |
| Dimensions |
21 cm. |
| 500 ## - GENERAL NOTE |
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| Materials specified |
Supervisor: <br/>Walaa Medhat |
| 502 ## - Dissertation Note |
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| Dissertation type |
Thesis (M.A.)—Nile University, Egypt, 2024 . |
| 504 ## - Bibliography |
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| Bibliography |
"Includes bibliographical references" |
| 505 0# - Contents |
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| Formatted contents note |
Contents:<br/>Contents<br/>Page<br/>Abstract . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . iv<br/>Dedication . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . v<br/>Acknowledgments . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . vi<br/>List of Tables . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ix<br/>List of Figures . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . x<br/>Chapters:<br/>1. Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1<br/>1.1 Motivation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1<br/>1.2 Problem Statement . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1<br/>1.3 Thesis Outline and Summary of Contributions . . . . . . . . . . . . . . . . . . . . 2<br/>2. Literature Survey . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3<br/>2.1 Historical Perspective and Contemporary Challenges of Diabetes Mellitus . . . . . 3<br/>2.2 Pathogenic Pathways and Types of Diabetes Mellitus . . . . . . . . . . . . . . . . . 4<br/>2.3 Impact of Obesity on Diabetes Risk in Egypt . . . . . . . . . . . . . . . . . . . . . 5<br/>2.3.1 Rising Obesity Trends and Their Consequences on Diabetes Prevalence in<br/>Egypt Among Adults and Younger Population . . . . . . . . . . . . . . . . 5<br/>2.3.2 Preventive Measures and Public Health Policies: . . . . . . . . . . . . . . . 5<br/>2.4 Epidemiology and Genetic Landscape of Metabolic Syndrome in Egypt . . . . . . . 7<br/>2.5 Precision Medicine: Tailoring Healthcare to Genetic, Environmental, and Lifestyle<br/>Diversity . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8<br/>3. Methodology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11<br/>3.1 Data Collection and Pre-processing: . . . . . . . . . . . . . . . . . . . . . . . . . . 11<br/>3.2 Development of the Genomic Analysis Pipeline: GenoVis (Genomic Visualization<br/>and Insight System) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12<br/>3.2.1 Computational Models in Variant Impact Analysis: . . . . . . . . . . . . . . 12<br/>3.3 Genetic Analysis and Visualization of Populations: . . . . . . . . . . . . . . . . . . 12<br/>3.4 Unique Egyptians’ Single Nucleotide Variants (SNVs) and Prediction of Protein<br/>Structural and functional Damage: . . . . . . . . . . . . . . . . . . . . . . . . . . . 14<br/>vii<br/>4. Results . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19<br/>4.1 Intersection Analysis of Diabetes Type II with Obesity, Hypertension and Hyperlipidemia: Annotation and Characterization of Associated Genes: . . . . . . . . . . 19<br/>4.2 Genotypes PCA and Heatmap Analysis of Allele Frequencies Matrix Reveal Population Clustering: . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 23<br/>4.3 Analysis of Two Protein-Coding SNPs with Structural Damage Potential in CDKAL1 and PPARG Genes: . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 31<br/>5. Discussion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35<br/>6. Conclusions and Future work . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 40<br/>6.1 Conclusion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 40<br/>6.2 Future directions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41<br/>7. Data Availability . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 42<br/>8. Supplementary Tables . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 44<br/>Bibliography . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5<br/> |
| 520 3# - Abstract |
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| Abstract |
Abstract:<br/>Diabetes mellitus (DM) is increasingly recognized as a significant global health challenge, particularly in Egypt, where the incidence of prediabetes is rising annually. This complex disease is<br/>influenced by a multitude of factors, including obesity, hyperlipidemia, and hypertension, which<br/>have emerged as major health concerns. The intricate pathophysiology of diabetes is closely associated with genetic variations, which may predispose certain populations, such as those in Egypt,<br/>to a higher risk of developing DM. In this context, my study undertakes a detailed analysis to discern the genetic commonalities and distinctions between the Egyptian genome reference and various<br/>subpopulations from the 1000-genome project, including Europeans, Ad-Mixed Americans, South<br/>Asians, East Asians, and Africans. This endeavor aims to identify potential genetic predispositions<br/>to metabolic syndromes. The methodology encompasses an examination of allele frequency variations across these populations, augmented by a principal component analysis of genotypes. Findings<br/>reveal that the metabolic genes in the Egyptian reference group exhibit close clustering with those<br/>of Europeans, Ad-Mixed Americans, and South Asians. Furthermore, the analysis identified 8,563<br/>unique variants within the Egyptian cohort. Of particular interest are two variants predicted to<br/>cause structural damage: CDKAL1: 6_21065070 (A>T) and PPARG: 3_12351660 (C>T), as determined by the Missense3D database. The CDKAL1 variant is a protein-coding gene linked to type<br/>2 diabetes mellitus, while PPARG is crucial for adipocyte differentiation and glucose homeostasis.<br/>These variants were found in a heterozygous state in two separate individuals within a sample size of<br/>110 Egyptians. This study illuminates distinctive genetic characteristics of the Egyptian population<br/>that contribute to the high prevalence of DM in the region. The analytical pipeline developed for<br/>this research, which is accessible via GitHub, offers a valuable tool for conducting similar genetic<br/>analyses across different diseases and populations.<br/>Keywords: Metabolic Syndrome, Principal Component Analysis (PCA), Genetic Analysis, Global<br/>Health Challenge, Diabetes Mellitus (DM), Population Genetics, Allele Frequency Variations. |
| 546 ## - Language Note |
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| Language Note |
Text in English, abstracts in English and Arabic |
| 650 #4 - Subject |
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| Subject |
Informatics-IFM |
| 655 #7 - Index Term-Genre/Form |
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| Source of term |
NULIB |
| focus term |
Dissertation, Academic |
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| School |
Informatics-IFM |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Source of classification or shelving scheme |
Dewey Decimal Classification |
| Koha item type |
Thesis |
| 650 #4 - Subject |
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266 |
| 655 #7 - Index Term-Genre/Form |
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187 |
| 690 ## - Subject |
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266 |