Whole exome analysis for causative genes of familial IgA nephropathy

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In sporadic IgA nephropathy (IgAN), GWAS disclosed several risk variants, however, causative genes for familial IgAN remained elusive. We applied exome sequencing analysis in family comprising of four biopsy-proven IgAN. To identify the causative gene variant, several filtering screening were carried out based on non-synonymous, frequency less than one percent of 1000 genome project, and heterozygosity fitted with autosomal dominant inheritance. Finally, 13 variants were selected shared by all affected individuals. Among them, EEA1 variant were completely cosegregated with affection status of the family members, showed significant higher values in sequence conservation and prediction of functional changes of protein by amino-acid substitution. We are now investigating the functional analysis of EEA1 variant, and it is expected that these analyses will lead to the development of innovative therapeutics.