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Fig. 1 | Human Genomics

Fig. 1

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

Fig. 1

Common protection at the CFH-CFHR5 locus is entirely described by the combination of CFH I62V and the deletion of CFHR3/1. a Manhattan plot showing the four common variants associated with protection against AMD (CFH I62V, rs1410996, the CFHR3/1-tagging rs12144939 and IAMDGC Locus 1.6) and the risk-conferring CFH Y402H. b Heatmap of the log-likelihood of additive regression models conditioning variables on the vertical axis to those of the horizontal axis. The combination of CFH I62V, the CFHR3/1 deletion and CFH Y402H yields the best model (boxed and highlighted). c Haplotype analysis using the four common variants associated with protection against AMD and CFH Y402H. Frequency for rs12144939 among Caucasians from the 1000 Genomes Project was based on rs6677604. *Score statistic based on the \({\rm X}^{2}\) test statistic with 1 degree of freedom. **Bonferroni correction for multiple testing of 9 haplotypes = 0.0056 (0.05/9)

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Human Genomics

ISSN: 1479-7364