Document Details

Document Type : Thesis 
Document Title :
Search for Potential Causative Genes in Familial Celiac Disease with Next Generation Sequencing Technology and Computational Biology
البحث عن الجين المحتمل و المسبب لمرض حساسية القمح العائلي باستخدام تقنيتين الجيل التالي لتحديد التسلسل و البيولوجيا الحاسوبية
 
Subject : Faculty of medicine 
Document Language : Arabic 
Abstract : Celiac disease (CD) is a chronic inflammatory and autoimmune disorder triggered by gluten ingestion. Most CD studies were conducted on Caucasian and American populations, leaving a gap of knowledge in the Arab population. In addition, CD in Saudi Arabia has been found to have a higher prevalence when compared to the rest of the world with 1.5%. We investigated a rare non-consanguineous Saudi family with two affected sibs to identify the genetic defects causing CD. Through whole exome sequencing (WES), we identified an extremely rare, homozygous and destabilizing missense variant c.241 A>G (p.Thr81Ala) in CPED1 gene, one copy of which was inherited from each parent. This variant was confirmed to be absent in 100 Saudi CD sporadic cases and only 1 homozygous individual found reported in 2379 Saudi Human Genome Project database supporting its role as potential novel CD causative variant. Gene expression in multiple tissues from the public domain reveals high expression of CPED1 in the gastrointestinal mucosa. By using a combination of systems biology approaches like protein 3D modeling, stability analysis and nucleotide sequence conservation analysis, we have further established that this variant is deleterious to the structural and functional aspects of CPED1 protein. To the best of our knowledge, this variant has not been previously reported as causal mutation in CD or any other disease. In conclusion, by using WES and in-silico protein structural analysis, present study has identified CPED1 as a potential causative gene to CD in a Saudi family. This approach expands the understanding of the genetic complexity of the disease to provide a better genetic counseling and early prenatal diagnosis. Further functional analysis is recommended to confirm the role of CPED1 variant towards the downstream pathology of CD. 
Supervisor : Dr. Ramu Elango 
Thesis Type : Master Thesis 
Publishing Year : 1442 AH
2020 AD 
Co-Supervisor : Dr. Babajan Banaganapalli 
Added Date : Saturday, March 6, 2021 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
هيفاء عبدالحفيظ بخاريBokhari, Hifaa AbdulhafeezResearcherMaster 

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