Mutational signatures on ischemic stroke-associated genes in Saudi human genome

Journal of King Saud University: Science

Faiz Alfaiz¹  Rajendran Vijayakumar²  Mohammad Saleh Al Aboodi²  Balaji Banoth²  Moorthy Kannaiyan²  Alaguraj Veluchamy³  Suresh Mickymaray⁴  Palanisamy Manikandan⁵ 

[1] Greenlink Analytical and Research Laboratory India Private Limited, Coimbatore 641 014, India;Department of Biology, College of Science in Zulfi, Majmaah University, Majmaah 11952, Saudi Arabia;Department of Infectious Diseases, St. Jude Children's Research Hospital, Danny Thomas Place, Memphis, TN 38105, United States of America;Department of Medical Laboratory Science, School of Pharmacy and Medical Laboratory Science, Institute of Health, Bule Hora University, Post Box Number – 144, Ethiopia;Department of Medical Laboratory Sciences, College of Applied Medical Sciences, Majmaah University, Majmaah 11952, Saudi Arabia;

关键词: Functional annotation;    Gene ontology;    Genome variation;    Ischemic stroke;    Single nucleotide polymorphism;   

DOI  :  

来源: DOAJ

【 摘 要 】

Stroke is a neurological syndrome, and it leads to 5.8 million mortalities worldwide annually. In the Kingdom of Saudi Arabia (KSA), stroke was predicted to have 57%-67% incidence rate against a population growth rate of 12.8%. Current state of the art in stroke research in KSA is limited to epidemiological, prevalence data and there is a lack of genetic basis of stroke among Saudi individuals and their risk for disease traits. Despite the better health care services in KSA, a genetic approach is needed for stroke, as it is a manifestation of both monogenic Mendelian and polygenic disorder. Here, we propose to analyze and annotate Saudi specific genome variations associated with stroke. In this study, we explored the non-coding and genic regions using 28 whole genomes of individuals from Saudi population. We explored stroke susceptible genes for additional variation. Analysis of 49 genes which are stroke-associated for single nucleotide polymorphism (SNPs), obtained from whole genomes, reveals variations in atleast 13 candidate genes. In conclusion, whole genome sequencing and annotation of SNPs in the population of Saudi Arabia provide an insight into genetics of stroke. This analysis furnish a list of probable novel Saudi specific mutations that could be associated with stroke, once a cohort of disease data can beobtained. In addition, we conjecture that, by identifying these mutational signatures, stroke subtype and susceptibility to stroke can be uncovered in the future.

【 授权许可】

Unknown