Association of SNPs from a Recently Published GWAS of Body Fat Distribution^* (Heid IM et al, NG, 2010) [32].

<p>All data modeled relative to the previously-published trait-increasing allele; the z-statistic indicates the effect direction relative to the coded allele.</p>*<p>Measured by WHR-adjusted-for-BMI.</p

Association of validated SNPs for BMI (from Speliotes et al, Nature Genetics 2010) [39].

<p>All CT traits presented with the same coded allele, and all are modeled relative to the previously-published BMI trait-increasing allele. Z-statistic indicates direction relative to the coded allele.</p

Results of rs1659258 in the VATGen meta-analysis; results modeled per copy of the trait-increasing A allele and for independent validation in the GIANT Consortium (non-overlapping studies).^*

*<p>GIANT sample sizes for women and men are as follows: BMI (58208, 49092); WC (39471, 31406).</p

Study Sample Characteristics, VATGen Consortium.

<p>Data shown as mean (standard deviation) unless otherwise indicated.</p>*<p>cm3 for the Framingham Heart Study; all other studies are measured in cm2.</p

Regional association results for chromosome 19 SNPs in the <i>PVRL2</i>/<i>APOE</i>/<i>TOMM40</i> gene cluster.

<p>The index, associated SNP is named and shown as a purple diamond (rs2075650: <i>P</i> = 1.1×10⁻⁶).</p

Population characteristics for the individual cohorts.

<p>Population characteristics for the individual cohorts.</p

Comparison of effect sizes for early AMD from this study versus published effect estimates for late AMD.

a<p>Superscript shows reference for the largest study reporting genome-wide association of the relevant SNP with late AMD, from which the “Late AMD” effect estimates were derived:</p>1<p>Chen et al, 2010 ¹¹.</p>2<p>Yu et al, 2011 ¹⁵.</p>3<p>Klein et al, 2005 ¹².</p>4<p>Kopplin et al, 2010 ¹³.</p>5<p>Arakawa et al, 2011 ¹⁰.</p>6<p>Neale et al, 2010 ¹⁴.</p>b<p>NCBI Human Genome Build 36.3 coordinates;</p>c<p>Effective allele;</p>d<p>Frequency of the effective allele;</p>e<p>Summary meta-analysis regression coefficient, indicating the overall, estimated change in log(odds) associated with each additional copy of the effective allele;</p>f<p>Estimated odds ratio and 95% confidence interval for each additional copy of the effective allele, based on fixed-effects meta-analysis of European-ancestry cohorts;</p>g<p><i>P</i>-value associated with the estimated OR;</p>h<p>NR: not reported;</p>i<p><i>P</i>-value from test of heterogeneity of regression coefficients between early and advanced AMD. The threshold for study-wise significance was 0.0036, after accounting for multiple tests. Significant results are shown in bold. Heterogeneity could not be assessed for SNPs with no published confidence interval for the late AMD effect estimate;</p>j<p>Ratio of regression coefficient for advanced vs early AMD, formulated as Beta_adv/Beta_early.</p><p><i>Notes:</i> This study did not have data and could not assess association for additional published SNPs rs4711751 in <i>VEGFA</i> and rs11200638 in <i>HTRA1</i>.</p

Results for SNPs showing suggestive evidence of association (<i>P</i>&lt;1×10⁻⁵) in the primary (European-ancestry) meta-analysis of early AMD.

<p>Where multiple correlated SNPs in the same gene/region showed similar association evidence, the most strongly associated SNP is shown.</p>a<p>NCBI Human Genome Build 36.3 coordinates;</p>b<p>Effective allele;</p>c<p>Frequency of the effective allele;</p>d<p>Estimated odds ratio and 95% confidence interval for the effect of each additional copy of the effective allele, based on the fixed-effects, inverse variance-weighted meta-analysis of European-ancestry cohorts;</p>e<p><i>P</i>-value associated with the estimated OR;</p>f<p>Heterogeneity <i>I²</i> statistic;</p>g<p>Heterogeneity <i>P</i>-value, based on Cochran’s Q statistic;</p>h<p>within a 500 kb genomic region centred on the associated SNP.</p

Comparison of estimated effect sizes for early versus advanced AMD for published SNPs showing genome-wide significant association with AMD.

a<p>Superscript shows reference for the largest study reporting genome-wide association of the relevant SNP with AMD:</p>1<p>Chen et al, 2010 ¹¹.</p>2<p>Yu et al, 2011 ¹⁵.</p>3<p>Klein et al, 2005 ¹².</p>4<p>Kopplin et al, 2010 ¹³.</p>5<p>Arakawa et al, 2011 ¹⁰.</p>6<p>Neale et al, 2010 ¹⁴.</p>b<p>NCBI Human Genome Build 36.3 coordinates;</p>c<p>Effective allele;</p>d<p>Frequency of the effective allele;</p>e<p>Summary meta-analysis regression coefficient, indicating the overall, estimated change in log(odds) associated with each additional copy of the effective allele;</p>f<p>Estimated odds ratio and 95% confidence interval for each additional copy of the effective allele, based on fixed-effects meta-analysis of European-ancestry cohorts;</p>g<p><i>P</i>-value associated with the estimated OR;</p>h<p>Heterogeneity <i>P</i>-value, based on Cochran’s Q statistic;</p>i<p><i>P</i>-value from test of heterogeneity of regression coefficients between early and advanced AMD. The threshold for study-wise significance was 0.0024, after accounting for multiple tests. Significant results are shown in bold;</p>j<p>Ratio of regression coefficient for advanced vs early AMD, formulated as Beta_adv/Beta_early.</p><p><i>Notes:</i> This study did not have data and could not assess association for additional published SNPs rs4711751 in <i>VEGFA</i> and rs11200638 in <i>HTRA1</i>.</p

Regional association results for chromosome 11 SNPs in the tyrosinase precursor (<i>TYR</i>) gene.

<p>The index, associated SNP is named and shown as a purple diamond (rs621313: <i>P</i> = 3.5×10⁻⁶).</p