Frequency of Selected Multiple Sclerosis Modifier Variants

Frequency of Selected Multiple Sclerosis Modifier Variants



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.


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