Allelic association results for D2S0276i and nine SNPs in the <i>COL4A4</i> and <i>RHBDD1</i> gene regions.

<p>1, major allele; 2, minor allele; OR, odds ratio; SNP, single nucleotide polymorphism.</p><p>Position is distance from short arm telomere. P values were calculated by χ² test 2×2 contingency table. We corrected <i>P</i> values (<i>P</i>c) of D2S0276i and 5 SNPs in the combined stage for multiple testing by Bonferroni's method and Haploview program using 10,000 permutations, respectively.</p

Association analysis of single nucleotide polymorphisms (SNPs) across the <i>COL4A4</i> and <i>RHBDD1</i> gene regions in 574 patients and 608 controls.

<p>The upper panels depict distribution of association results of D2S0276i and SNPs in <i>COL4A4</i> and <i>RHBDD1</i>. The results of monomorphic SNPs are not shown. The lower panels show the linkage disequilibrium structure in the <i>COL4A4</i> and <i>RHBDD1</i> regions; brighter red indicates higher D’.</p

Stage Two <i>HK2</i> SNPs Allele Frequencies in Japanese POAG, NTG and Control Subjects.

*<p>Fisher's exact test; dominant model.</p><p>G/G or T/T is mutant homozygote, A/G or A/T is heterozygote, and A/A is wild homozygote.</p

Stage One and Stage Two Association Test Results.

<p>MAF; Minor allele frequency, CNTL; Control.</p>*<p>Fisher's exact test.</p

Stage one Test of SNPs in GLC1B-Region Genes for Association with POAG or NTG.

*<p>chi-square test.</p>**<p>minor allele frequency in stage 2 control was 0.494.</p>***<p>minor allele in control was major allele in POAG and NTG subjects.</p><p>MAF; minor allele frequency, CI; confidence interval.</p

Correlation between the POAG or NTG Endophenotypes and <i>HK2</i> SNPs Screened in Stage Two.

*<p>IOP; intraocular pressure (under medication).</p>**<p>Dunnett's test.</p><p>G/G or T/T is mutant homozygote, A/G or A/T is heterozygote, and A/A is wild homozygote.</p

<i>Hk2</i> and <i>Nck2</i> Immunohistochemistory.

<p>Representative IHC photographs showing Hk2, Nck2, astrocyte maker (GFAP) and RGC marker (C38) in the retinas of untreated mice. Arrows indicated the co-localization area.</p

Clinical Characteristics of Subjects studied in Stage One and Two Screening.

*<p>IOP; intra ocular pressure (under medication).</p>**<p>The Visual Field Score was evaluated by Humphrey MD value or Goldmann perimetry (Stage One) and Humphrey MD value (Stage Two).</p><p>In Stage One, the severity of the visual field defects was scored from 1 to 5 according to previously reported criteria. The data obtained by two types of perimetry were combined using a five-point scale: 1, no alterations; 2, early defects; 3, moderate defects; 4, severe defects; and 5, light perception only or no light perception. The first four groups on this severity scale followed Kozaki's classification based on Goldmann perimetry or the classification was based on results of visual field perimetry (Humphrey Field Analyzer; Carl Zeiss Meditec, Dublin, CA). Kozaki's classification is widely used in Japan.</p