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Fig. 3 | Human Genomics

Fig. 3

From: Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci

Fig. 3

Association between CFH-CFHR5 and ARMS2/HTRA1 diplotype combinations and AMD susceptibility. The effect size was calculated using Firth’s bias-reduced logistic regression [57] while adjusting for age and gender, and were used to define the colormap in all sub-figures. Bonferroni correction for multiple testing of 18 diplotype combinations = 0.0028 (0.05/18). a Odds ratios and frequency among cases and controls for CFH-CFHR5 and ARMS2/HTRA1 diplotype combinations. b Effect of CFH-CFHR5 diplotypes on AMD susceptibility among individuals with zero (left circle), one (middle circle) or two (right circle) ARMS2/HTRA1 risk alleles and associated odds ratios (provided in circles). AMD susceptibility moves towards protection with protective haplotypes on Chr1. c Effect of ARMS2/HTRA1 risk alleles on AMD susceptibility among individuals with Prot/Prot (left circle), Neutral/Neutral (middle circle) or Risk/Risk (right circle) CFH-CFHR5 diplotypes and associated odds ratios (in circles)

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