Virtual Conference
Cardiology Workshop

Alisher Abdullaev

Center for Advanced Technology, Uzbekistan

Title: Meta-analysis-based development of type 2 diabetes mellitus and cardio-vascular diseases risk assessment SNPs panel


Background:  Genome wide associations studies (GWAS) revealed hundreds and thousands of single nucleotide polymorphisms (SNPs) associated with diabetes mellitus type 2 (T2D) and cardio-vascular diseases (CVDs) in different populations.  Whole genome and even whole exome sequencing studies of big cohorts require sufficient time and financial costs. As a time and cost-effective alternative for studying the distribution of disease risk SNPs and their association with a specific disease in a population, we have developed and proposed for use the custom CVD-T2D SNPs screening panel for next generation sequencing platforms. 

Material and methods: Analysis of 32,541 and 10,104 publications on SNPs associated with the risk of T2D and CVD respectively, using PubMed Central, Web of Science and SCOPUS. The meta-analysis included 1763 GWAS studies presented in the several publicly available GWAS databases. The SNP markers selected according to the following criteria: the effect of SNP was statistically assessed (OR, or effect size – ?, 95% CI, -log p ?8, MAF >1%, controls were in HWE), the results were independently replicated. Determination of optimal genome regions and oligonucleotide design for genotyping selected SNPs were carried out using the SureDesign (Agilent, USA) based on the GRCh38 reference assembly. 

Results: The strict criteria of the "bottom-line algorithm" made it possible to select 505 SNP markers associated with the phenotype at p values ? 0.0000001 in all populations. Of these, in the screening panel for T2D, 124 SNPs located in or near to 77 genes are presented, for CVD - 381 SNPs located in or near to 343 genes. The largest number of risk markers for cardiovascular pathologies is presented for the following diseases: CAD-79, stroke-32, myocardial infarction-29, SBP-30, pulse pressure-44, total cholesterol-91, low-density lipoproteins -13. Moreover, the panel includes 23 SNPs associated with the risk of several other CVDs, including 4 SNP markers associated with statin metabolism. 

Conclusion: The panel is cost-effective and fully adapted for research on NGS platforms. This panel can be used for screening in clinical practice as an extended diagnostic tool, as well as in population-based clinical studies.


Alisher Abdullaev completed his Ph.D. at the age of 30 years from Institute of Genetics, Uzbekistan. He is the head of the Biotechnology laboratory at the Center for Advanced Technology. He has over 300 publications that have been cited over 1038 times, and his publication h-index is 17. He has been serving as an editorial board member of several reputed journals