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Published in final edited form as: Nat Rev Genet. 2012 Jul 10;13(8):537–551. doi: 10.1038/nrg3240

(a) Plot of heritability by log₁₀ lifetime prevalence for nine psychiatric disorders considered in this review plus three complex diseases for which genetic dissection has been particularly successful (Tables 1 and S1). Each disorder is plotted by as heritability by lifetime prevalence. Color indicates qualitative success in identifying etiological genetic variation (green=notably successful, khaki=some successes, red=minimal or no clear success to date). The bubble sizes are proportional to the numbers of cases studied in GWAS (the smaller circle indicating discovery N_case and the larger circle the total N_case for discovery plus replication samples). Abbreviations: ADHD=attention-deficit hyperactivity disorder, ALC=alcohol dependence, AD=Alzheimer’s disease, AN=anorexia nervosa, ASD=autism, BIP=bipolar disorder, BRCA=breast cancer, CD=Crohn’s disease, MDD=major depressive disorder, NIC=nicotine usage (maximum cigarettes per day), SCZ=schizophrenia, and T2DM=type 2 diabetes mellitus.

(b) Allelic spectrum of SCZ. The inset is a conceptual schematic from a 2008 Nature Genetics review. ¹⁰ The lower part of the figure depicts empirical results for SCZ. The x-axis is log₁₀(AF) in controls. The y-axis is the point estimate for genotypic relative risk (GRR, log₁₀). For clarity, confidence intervals are not shown. There are no known Mendelian variants for SCZ (AF ≪ 0.0001, GRR ≫ 50). There are no known common variants (AF > 0.05) with GRR > 1.5, and these can be excluded with > 99% statistical power. Nine SVs associated with SCZ are shown as light blue diamonds (Table 2, 1q21.1- is the deletion and 1q21.1+ is the duplication). If AF in controls was 0, AF was set to 0.0001. These SVs do not have a corresponding region in the inset. Seventeen common variants have been associated with SCZ (red circles, Table 3). SNPs contributing to the PGC SCZ risk profile score ⁵⁸ (21,171 autosomal SNPs with P_T < 0.1, Box 3, panel b) are shown in light blue dots with a lowess smoother in dark blue.

(a) Plot of heritability by log₁₀ lifetime prevalence for nine psychiatric disorders considered in this review plus three complex diseases for which genetic dissection has been particularly successful (Tables 1 and S1). Each disorder is plotted by as heritability by lifetime prevalence. Color indicates qualitative success in identifying etiological genetic variation (green=notably successful, khaki=some successes, red=minimal or no clear success to date). The bubble sizes are proportional to the numbers of cases studied in GWAS (the smaller circle indicating discovery N_case and the larger circle the total N_case for discovery plus replication samples). Abbreviations: ADHD=attention-deficit hyperactivity disorder, ALC=alcohol dependence, AD=Alzheimer’s disease, AN=anorexia nervosa, ASD=autism, BIP=bipolar disorder, BRCA=breast cancer, CD=Crohn’s disease, MDD=major depressive disorder, NIC=nicotine usage (maximum cigarettes per day), SCZ=schizophrenia, and T2DM=type 2 diabetes mellitus.

(b) Allelic spectrum of SCZ. The inset is a conceptual schematic from a 2008 Nature Genetics review. ¹⁰ The lower part of the figure depicts empirical results for SCZ. The x-axis is log₁₀(AF) in controls. The y-axis is the point estimate for genotypic relative risk (GRR, log₁₀). For clarity, confidence intervals are not shown. There are no known Mendelian variants for SCZ (AF ≪ 0.0001, GRR ≫ 50). There are no known common variants (AF > 0.05) with GRR > 1.5, and these can be excluded with > 99% statistical power. Nine SVs associated with SCZ are shown as light blue diamonds (Table 2, 1q21.1- is the deletion and 1q21.1+ is the duplication). If AF in controls was 0, AF was set to 0.0001. These SVs do not have a corresponding region in the inset. Seventeen common variants have been associated with SCZ (red circles, Table 3). SNPs contributing to the PGC SCZ risk profile score ⁵⁸ (21,171 autosomal SNPs with P_T < 0.1, Box 3, panel b) are shown in light blue dots with a lowess smoother in dark blue.