<i>BACE1</i> (rs638405) and <i>PRNP</i> codon 129 genotypic frequencies in control subjects and sCJD patients.

<p><i>BACE1</i> (rs638405) and <i>PRNP</i> codon 129 genotypic frequencies in control subjects and sCJD patients.</p

Odds ratios for the association between sCJD and <i>BACE1</i> C-allele carriers at rs638405 among different strata defined by <i>PRNP</i> codon 129 genotypes.

<p>Odds ratios for the association between sCJD and <i>BACE1</i> C-allele carriers at rs638405 among different strata defined by <i>PRNP</i> codon 129 genotypes.</p

Demographic description and histogram of age distribution at clinical onset for sCJD (left) and sample procurement for controls (right) adjusted to normal distribution curves.

<p>Statistically significant differences between sCJD and control populations were observed for age (p<0.001) but not for gender distribution (p = 0.14).</p

<i>APOE</i> and <i>PRNP</i> codon 129 genotypic and allelic frequencies in control subjects (Cont) and patients (AD, sCJD).

a<p><i>APOE</i> ε4 status: ε4− = no copies of ε4 allele, ε4+ = one or two copies of ε4 allele.</p

Odds ratios for the association between CJD and <i>PRNP</i> codon 129 in different strata defined by <i>APOE</i> ε4 allele status (M129V genotype is taken as reference or non-exposed).

a<p><i>APOE</i> ε4− = no copies of ε4 allele;</p>b<p><i>APOE</i> ε4+ = one or two copies of ε4 allele.</p

Synergy in sCJD population between <i>APOE</i> and <i>PRNP</i> genes.

a<p><i>APOE</i> ε4 allele: − = no copies of ε4 allele, + = one or two copies of ε4 allele;</p>b<p>OR calculated by a logistic regression model controlling by age as a linear variable and gender, and introducing the <i>PRNP</i>×<i>APOE</i> interaction factor as third independent variable.</p

Synergy in AD population between <i>APOE</i> and <i>PRNP</i> genes.

a<p><i>APOE</i> ε4 allele: − = no copies of ε4 allele, + = one or two copies of ε4 allele;</p>b<p>OR calculated by a logistic regression model controlling by age, linear values, and gender and using the <i>PRNP</i>×<i>APOE</i> interaction factor as third independent variable;</p>c<p>OR calculated by chi-square.</p

Odds ratios for the association between CJD and <i>APOE</i> ε4 carriers (vs. <i>APOE</i> ε4 non-carriers) among different strata defined by <i>PRNP</i> codon 129 genotypes.

<p>Odds ratios for the association between CJD and <i>APOE</i> ε4 carriers (vs. <i>APOE</i> ε4 non-carriers) among different strata defined by <i>PRNP</i> codon 129 genotypes.</p

Odds ratios for the association between Alzheimer's disease and <i>APOE</i> ε4 carriers (vs. <i>APOE</i> ε4 non-carriers) among different strata defined by <i>PRNP</i> codon 129 genotypes.

<p>Odds ratios for the association between Alzheimer's disease and <i>APOE</i> ε4 carriers (vs. <i>APOE</i> ε4 non-carriers) among different strata defined by <i>PRNP</i> codon 129 genotypes.</p

New genome-wide significant genes associated with AD in the vicinity of recently reported single SNP genome-wide significant hits[9], [19].

<p>Gene-wide p-values are shown for those genes with p<2.5×10⁻⁶ for which the best single-SNP p-value in that gene is greater than 5×10⁻⁸ in the combined Stage 1 and Stage 2 sample. Previously reported genes<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0094661#pone.0094661-Harold1" target="_blank">[4]</a>–<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0094661#pone.0094661-Seshadri1" target="_blank">[8]</a> ± 0.5 Mb around them are excluded.</p><p>Gene-wide p-values in the combined Stage 1 and Stage 2 sample obtained by combining the p-values from the Stage 1 with those from the Stage 2 using Fisher's method. The LD between rs1476679 (chr7∶100,004,446) reported by IGAP <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0094661#pone.0094661-Lambert2" target="_blank">[9]</a> and the best SNP in ZNF3 is r² = 0.16. The LD between rs10838725 (chr11: 47,557,871) reported by IGAP <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0094661#pone.0094661-Lambert2" target="_blank">[9]</a> and the best SNPs in the region on chr 11 in the table are r² = 0.3 and 0.88 for <i>NDUFS3</i> and <i>MTCH2</i> respectively.</p