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• W2808064981 abstract "Genetic alterations in the complement system have been linked to a variety of diseases, including atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy (C3G), and age‐related macular degeneration (AMD). We performed sequence analysis of the complement genes complement factor H ( CFH ), complement factor I ( CFI ), and complement C3 ( C3 ) in 866 aHUS/C3G and 697 AMD patients. In total, we identified 505 low‐frequency alleles, representing 121 unique variants, of which 51 are novel. CFH contained the largest number of unique low‐frequency variants ( n = 64; 53%), followed by C3 ( n = 32; 26%) and CFI ( n = 25; 21%). A substantial number of variants were found in both patients groups ( n = 48; 40%), while 41 (34%) variants were found only in aHUS/C3G and 32 (26%) variants were AMD specific. Genotype‐phenotype correlations between the disease groups identified a higher frequency of protein altering alleles in short consensus repeat 20 (SCR20) of factor H (FH), and in the serine protease domain of factor I (FI) in aHUS/C3G patients. In AMD, a higher frequency of protein‐altering alleles was observed in SCR3, SCR5, and SCR7 of FH, the SRCR domain of FI, and in the MG3 domain of C3. In conclusion, we observed a substantial overlap of variants between aHUS/C3G and AMD; however, there is a distinct clustering of variants within specific domains." @default.
• W2808064981 created "2018-06-21" @default.
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• W2808064981 date "2018-07-10" @default.
• W2808064981 modified "2023-10-16" @default.
• W2808064981 title "Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration" @default.
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• W2808064981 doi "https://doi.org/10.1111/cge.13392" @default.
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