Frequency of Selected Multiple Sclerosis Modifier Variantsadmin
Frequency of Selected Multiple Sclerosis Modifier Variants in a Healthy Sudanese Population
Authors name : Ola Almubarak Omer , Mohamed O Esiddeig , Muntaser Eltyeb Ibrahim
Affiliation : institute of endemic disease university of Khartoum , Khartoum , sudan
Background : multiple sclerosis [MS] is an autoimmune demyelinating disease characterized by complex genetics and multifaceted gene-environment interaction.
Objective : reviewing literature to filter MS modifier variants which is most likely associated with MS in Sudanese population according to its replication in African Americans , calculate the frequency of this variants in healthy Sudanese population and to compare this frequencies with the frequencies of this variants in other populations.
Methods : A total of 29 single nucleotide polymorohisms [SNPs] were filtered , of which 28 SNP minor technology . MAF of the 29th SNP was calculated in a 45 healthy Sudanese sample genotyped using whole exome sequencing. Both data sets are already available .Those calculated MAFs compared with MAF in the other populations .
Results : Out of first 28 SNPs, 25 SNPs found to be represented in the SNP-array .Out of those 25 SNPs , 12 showed significant differences between Sudanese and Europeans , 10 between Sudanese and East Asians , 8 between Sudanese and Americans, 4 between Sudanese and Africans. The MAF of the 29th SNP rs10735781(EV15) in sudanese shows significant difference in relation to other populations .
Conclusion : There is no statically significant difference between MAF of most of MS modifier variants in Sudanese in relation to the other populations and the degree of difference are explained by ancestral relationship between populations differences in disease incidence between populations and finally differences in disease pathogenesis between different populations. In future MS association studies in Sudanese , it will be helpful and more affordable to use our filtered genes as candidate genes and we recommend to test the association of more EBV related sequences (eg EBNA) than only rs10735781(EV15).
Key words: MS, SNP, variants, MAF.