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. 2017 Sep 8;8(43):75264–75271. doi: 10.18632/oncotarget.20769

Figure 1. Summary of the study design and results.

Figure 1

We performed whole-exome sequencing on samples from 51 CHM patients and 47 healthy women. Screening of candidate mutations by MALDI-TOF MS was performed in 199 CHM patients and 400 healthy women. Candidate polymorphisms were validated by Sanger sequencing in 250 cases and 652 controls, which included samples analyzed in the first and second screening and an additional 205 controls. We identified two SNPs:ERC1c.G48C(p.Q16H), and KCNG4 c.G1114A(p.G372S) that were associated with an increased risk of CHM (p<0.05).