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Identification of biological functions of risk loci associated with complex epilepsy: An in-silico approach for data analysis

Research Paper | March 1, 2017

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Rubina Dad, Muhammad Ikram Ullah, Amjad Ali, Muhammad Jawad Hassan

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Int. J. Biosci.10( 3), 388-398, March 2017

DOI: http://dx.doi.org/10.12692/ijb/10.3.388-398


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Complex epilepsy is caused by the interaction of multiple genes and environmental factors with number of susceptibility loci in human genome. In this study, we selected 32 epilepsy associated risk Single Nucleotide Polymorphisms (SNPs) from six published Genome Wide Association Studies (GWAS) and used online SNAP tool to deduce 288 proxy SNPs based on linkage disequilibrium. These results were then used as input data for Regulome DB; software for interpretation of regulatory variants in the human genome to predict their potential functions. After investigating these 288 SNPs, 157 SNPs returned back with a score indicative of no potential regulatory function. Only 10 SNPs returned with significant scores, indicating the regulatory function and only 3 out of them showed highly significant score. Our results illustrate the future interpretation of GWAS data to include LD structure and different loci association for epilepsy risk.


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Identification of biological functions of risk loci associated with complex epilepsy: An in-silico approach for data analysis

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