Genome-wide association study of type 2 diabetes in an african population the case of uganda.pptx

genome-wide association study(GWAS)� of type 2 diabetes in an african population: the case of uganda

1. African Centre of Excellence in Bioinformatics(ACE) - Université des Sciences Techniques et Technologique de Bamako(USTTB) Bioinformatics master thesis present by Abdoulaye Diawara genome-wide association study(GWAS) of type 2 diabetes in an african population: the case of uganda Supervisors: Dr Segun Fatumo Dr Djeneba Dabitao

2. PLAN

3. millions people worldwide  are now living with diabetes 425

4. 2015 2017 2040 T h e r i s e o f Diabetes in Africa is alarming

5. Lifestyle change

6. Type 1 Type 2 A. B . 90% of diabetes

7. How GWAS works 1- find many thousand people who differ for the trait of interest 2- Use the ‘DNA chip’ to identify their alleles at each of ~ 10 6 SNP(single nucleotide polymorphisms ) genome positions 3- Look for the SNPs where the two populations have different allele frenquencies

8. Main Objective Specific objectives 1 2 3

9. GeneCards Ensembl.org GEMMA is the software implementing the Genome-wide Efficient Mixed Model Association

10. PLINK GEMMA Manhattan &QQ plots GeneCards Ensembl.org GPC Round 22 Illumina array

11. 2,230,258 SNPs Strict control 83,916 variants 114 subjects The results of Quality Control

12. rs148228241 We observed an association signal on chromosome 16 and the peak SNP was rs148228241 Manhattan plot Position of SNPs along each of the chromosomes

13. 3 Gene s predominantly affected by rs148228241 SNP The SNP was linked to 3 genes that are involved in oxygen transport in cells

14. This genome-wide association study on data from an open cohort of approximately 5,000 people in the rural area Uganda, aimed to determine SNPs associated with type II diabetes in Africa. We identified a SNP that is significantly associated with type II diabetes The identified SNP is also found at a higher frequency in the African population compared to non-Africans (i.e., Europe, Asia, and America) The SNP was linked to 3 genes that are involved in oxygen transport in cells Conclusion

15. A cknowledgements I would like to express my gratitude to my supervisors Dr Segun FATUMO , Dr Djeneba DABITAO. My profound gratitude goes to Professor Seidou DOUMBIA Dr Mamadou WELE, and Dr Amadou Koné,