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. Author manuscript; available in PMC: 2016 Jul 20.
Published in final edited form as: Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169

Figure 3. Certain variants confer intermediate amounts of lifetime risk.

Figure 3

M232R, V180I, and V210I show varying degrees of enrichment in cases over controls, indicating a weak to moderate increase in risk. Best estimates of lifetime risk in heterozygotes (Materials and Methods) range from ~0.08% for M232R to ~7.8% for V210I, and correlate with the proportion of patients with a positive family history. Allele frequencies for P102L, A117V, D178N and E200K are consistent with up to 100% penetrance, with confidence intervals including all reported estimates of E200K penetrance based on survival analysis, which range from ~60% to ~90% (19, 23–26). Rates of family history of neurodegenerative disease in Japanese cases are from (Table S10) and in European populations are from Kovacs et al (21), with Wilson binomial 95% confidence intervals shown. *Based on allele counts rounded for privacy (Materials and Methods). †GSS, Gerstmann Straussler Scheinker disease associated with variants P102L, A117V and G131V. ‡FFI: fatal familial insomnia associated with a D178N cis 129M haplotype.