Mutational signatures on ischemic stroke-associated genes in Saudi human genome
Al Aboodi, Mohammad Saleh
KAUST DepartmentBiological and Environmental Science and Engineering (BESE) Division
Center for Desert Agriculture
Permanent link to this recordhttp://hdl.handle.net/10754/679710
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AbstractStroke 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.
CitationVijayakumar, R., Manikandan, P., Alfaiz, F., Al Aboodi, M. S., Kannaiyan, M., Mickymaray, S., Banoth, B., & Veluchamy, A. (2022). Mutational signatures on ischemic stroke-associated genes in Saudi human genome. Journal of King Saud University - Science, 34(6), 102151. https://doi.org/10.1016/j.jksus.2022.102151
SponsorsThe authors extend their appreciations to the deputyship for Research & Innovation, Ministry of Education in Saudi Arabia for funding this research work through the project number (lFP-2020-38).
Except where otherwise noted, this item's license is described as © 2022. The Author(s). Published by Elsevier B.V. on behalf of King Saud University. This is an open access article under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/