7 research outputs found

    Association of polymorphisms in the heparanase gene (HPSE) with hepatocellular carcinoma in Chinese populations

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    <div><p>Abstract Heparanase activity is involved in cancer growth and development in humans and single nucleotide polymorphisms (SNPs) in the heparanase gene (HPSE) have been shown to be associated with tumors. In this study, we investigated whether SNPs in HPSE were a risk factor for hepatocellular carcinoma (HCC) by undertaking a comprehensive haplotype-tagging, case-control study. For this, six haplotype-tagging SNPs (htSNPs) in HPSE were genotyped in 400 HCC patients and 480 controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. A log-additive model revealed significant correlations between the HPSE polymorphisms rs12331678 and rs12503843 and the risk of HCC in the overall samples (p = 0.0046 and p = 0.0055). When the analysis was stratified based on hepatitis B virus (HBV) carrier status, significant interactions between rs12331678 and rs12503843 and HBV were observed. Conditional logistic regression analysis for the independent effect of one significant SNP suggested that rs12331678 or rs12503843 contributed an independent effect to the significant association with the risk of HCC, respectively. Our findings suggest that the SNPs rs12331678 and rs12503843 are HCC risk factors, although the potential functional roles of these two SNPs remain to be fully elucidated.</p></div

    Combined effects of the genetic variants in the <i>PTEN</i>, <i>AKT1</i>, <i>MDM2</i> and <i>p53</i> genes on the risk of nasopharyngeal carcinoma.

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    <p>Abbreviations: OR, odds ratio; CI, confidence interval.</p>a<p><i>χ<sup>2</sup></i> test for the distribution of genotypes between patients and control subjects.</p>b<p><i>P</i> values were calculated by multivariate logistic regression, adjusted for age, sex, smoking and drinking status, smoking level, and nationality.</p>c<p><i>χ</i><sup>2</sup> test for the <i>P</i><sub>trend</sub> value of genotypes between patients and control subjects.</p>d<p>Low-risk group, individuals carrying 0–2 risk genotypes; high-risk group, individuals carrying 3-4 risk genotypes.</p><p>*<i>P</i> value remained significant after c°rrection for multiple comparisons (<i>P</i> = 0.048).</p

    Haplotypes of <i>AKT1</i> polymorphisms and the risk of nasopharyngeal carcinoma.

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    <p>(<i>a</i>) Genomic structure of the <i>AKT1</i> locus and the polymorphic sites used. Exons (boxes) and introns are not drawn to scale; open boxes represent noncoding sequences, and filled boxes represent coding sequences. The physical distance between SNPs is shown in nucleotides. (<i>b</i>) Linkage disequilibrium (LD) map of SNPs based on <i>D</i> ´. (<i>c</i>) LD map of SNPs based on <i>r</i><sup>2</sup>. (<i>d</i>) Global <i>P</i> values from single-locus and multi-locus (two to five) based association analysis. (<i>e</i>) Haplotypes showing significant genetic associations with the risk of nasopharyngeal carcinoma. The two-SNP core haplotype is highlighted in gray.</p

    Stratification analysis of the combined genotypes of the <i>PTEN</i>, <i>AKT1</i>, <i>MDM2</i> and <i>p53</i> polymorphisms and risk of nasopharyngeal carcinoma.

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    <p>Abbreviations: OR, odds ratio; CI, confidence interval.</p>a<p>ORs and <i>P</i> values were calculated by multivariate logistic regression, adjusted for age, sex, smoking and drinking status, smoking level and nationality when appropriate within the strata.</p>b<p>For differences in ORs within each stratum.</p>c<p>Low-risk group, individuals carrying 0–2 risk genotypes; high-risk group, individuals carrying 3–4 risk genotypes.</p

    Semiquantitative PCR for <i>HJURP</i>.

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    <p>Expression of <i>HJURP</i> for the three different genotypes of rs3771333 was measured in RNA from Epstein-Barr virus (EBV)-transformed blood lymphocyte cell lines derived from 53 unrelated Chinese individuals. Forty-three individuals carry A/A, 9 carry A/C and 1 carrys C/C genotype. Normalization for mRNA quantity was performed with human <i>GAPDH</i> control primers for each sample. The horizontal bars indicate the mean values for each genotype, with the mean value of A/A carriers designated as 1. We found that the expression of <i>HJURP</i> mRNA in C allele carriers had a lower level compared with the A/A carriers (<i>P</i> = 0.0078; <i>t</i> test).</p
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