Analysis of polymorphisms according to prostate cancer aggressiveness and lethality.

<p>aOR = age-adjusted OR, number of controls = 656.</p><p>*MAF in controls = 0.46.</p><p>**not in HWE.</p><p>p-heterogeneity between aggressive and non-aggressive for rs10948059: CT vs CC = 0.06, TT vs CC = 0.09, per-allele = 0.09.</p

Characteristics of prostate cases (PCa) and controls.

<p>* 20 missing data on stage (3.0%).</p><p>** 31 missing data on Gleason score (4.7%).</p><p>*** 44 missing data on PSA at diagnosis (6.7%).</p

Frequency of GNMT polymorphisms and association with prostate cancer risk.

<p>aOR = age-adjusted OR.</p><p>*Minor allele frequency in controls = 0.456.</p><p>**not in HWE.</p

Sequence Variants of Toll Like Receptor 4 and Late-Onset Alzheimer's Disease

<div><h3>Background</h3><p>Toll like receptor 4 (TLR4) has been related to inflammation and beta-amyloid deposition in Alzheimer's disease (AD) brain. No study has explored the association between haplotype-tagging single nucleotide polymorphisms (htSNPs) of <em>TLR4</em> and AD risk previously and <em>ApoE e4</em> status alone showed low sensitivity in identifying late-onset AD (LOAD) patients.</p> <h3>Methods</h3><p>A total of 269 LOAD patients were recruited from three hospitals in northern Taiwan (2007–2010). Controls (n = 449) were recruited from elderly health checkup and volunteers of the hospital during the same period of time. Five common (frequency≥5%) <em>TLR4</em> htSNPs were selected to assess the association between <em>TLR4</em> polymorphisms and the risk of LOAD in the Chinese ethnic population.</p> <h3>Results</h3><p>Homozygosity of <em>TLR4</em> rs1927907 was significantly associated with an increased risk of LOAD [TT vs. CC: adjusted odds ratio (AOR) = 2.45, 95% confidence interval (CI) = 1.30–4.64]. After stratification, the association increased further in <em>ApoE e4</em> non-carriers (AOR = 3.07) and in hypertensive patients (AOR = 3.60). Haplotype GACGG was associated with a decreased risk of LOAD (1 vs. 0 copies: AOR = 0.59, 95% CI = 0.36–0.96; 2 vs. 0 copies: AOR = 0.31, 95% CI = 0.14–0.67) in <em>ApoE e4</em> non-carriers. <em>ApoE e4</em> status significantly modified this association (<em>p</em>_interaction = 0.01). These associations remained significant after correction for multiple tests.</p> <h3>Conclusions</h3><p>Sequence variants of <em>TLR4</em> were associated with an increased risk of LOAD, especially in <em>ApoE e4</em> non-carriers and in hypertensive patients. The combination of <em>TLR4</em> rs1927907 and <em>ApoE e4</em> significantly increased the screening sensitivity in identifying LOAD patients from 0.4 to 0.7.</p> </div

Haplotype frequencies and their association with prostate cancer risk (haplotype STRP1- rs10948059).

<p>*Only haplotypes with estimated frequencies >1% are listed.</p><p>**Estimated numbers of informative haplotypes: PCa cases = 1034, controls = 1003.</p

Frequency of the polymorphisms and association of the risk alleles with prostate cancer in Taiwanese prostate cancer study and HPFS controls.

<p>*Comparison of <i>GNMT</i> allelic and genotypic distributions between Taiwanese population and HPFS (chi-square test).</p

Characteristics of the study population.

*<p><i>p</i> value<0.05 was obtained by comparing LOAD cases and controls.</p><p>Abbreviations: LOAD, late-onset Alzheimer's disease; SD, standard deviation; BMI, body mass index; DM, diabetes mellitus; <i>ApoE e4</i>, apolipoprotein E <i>e</i>4.</p

Association between <i>TLR4</i> SNPs and LOAD risk by hypertension status.

<p>All models were adjusted for age, gender, education, and <i>ApoE e4</i> status.</p><p>Abbreviations: LOAD, late-onset Alzheimer's disease; AOR, adjusted odds ratio; CI, confidence interval; SNP, single nucleotide polymorphism.</p><p>Numbers in bold indicates statistically significant findings(p<α = 0.05).</p>a<p>0 copies, wild type; 1 copy, heterozygotes; 2 copies, homozygous variants.</p>*<p>The result remained significant (2 copies of variant SNP3 in hypertensive persons, <i>p</i> = 0.002) after controlling for type I error by using Bonferroni correction (α = 0.05/5).</p><p>Before stratification, hypertensive patients showed a decreased the risk of LOAD (AOR = 0.41, 95% CI = 0.28–0.61).</p

Association between <i>TLR4</i> haplotypes and LOAD.

<p>Abbreviations: LOAD, late-onset Alzheimer's disease; AOR, adjusted odds ratio; CI, confidence interval; DM, diabetes mellitus; HAP, haplotype; NA, not applicable; SNP, single nucleotide polymorphism; <i>ApoE e4</i>, apolipoprotein E e4.</p><p>All models were adjusted for age, gender, education, and <i>ApoE e4</i> status.</p><p>Minor alleles were underlined.</p><p>Numbers in bold indicates statistically significant findings (<i>p</i><α = 0.05).</p>a<p>0 copies, wild type; 1 copy, heterozygotes; 2 copies, homozygous variants.</p>*<p>The result remained significant (2 copies of HAP1, <i>p</i> = 0.003) after controlling for type I error by using Bonferroni correction (α = 0.05/4).</p

<i>TLR4</i> linkage disequilibrium (LD) plot.

<p>This plot was generated by Haploview program using data from this study. Five common (frequency≥0.05) htSNPs formed one block. The SNP name, e.g., SNP1, SNP2, etc., indicated five htSNPs genotyped in this study. Four common haplotypes were identified. The level of pairwise r², which indicated the association degree between two SNPs in the LD block, was shown in the cell of the LD structure in numeric. The level of pair-wise D', which indicated the strength of LD between two SNPs, was shown in the LD structure in gray scale.</p