1,252 research outputs found

    Single nucleotide polymorphisms of complement component 5 and periodontitis

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    BACKGROUND AND OBJECTIVE: Polymorphisms of host defence genes might increase one's risks for periodontitis. This study investigated whether tagging single nucleotide polymorphisms (SNPs) of the gene encoding complement component 5 (C5) are associated with periodontitis in a Hong Kong Chinese population. MATERIAL AND METHODS: Eleven tagging SNPs of 229 patients with at least moderate periodontitis and 207 control subjects without periodontitis were genotyped using an i-plexGOLD MassARRAY mass-spectrometry system. RESULTS: Genotype AG of SNP rs17611 was more prevalent in the group of periodontitis patients than in the controls (54.6% vs. 41.7%, p = 0.007). The haplotype CGCA of the haplotype block consisting of rs1035029, rs17611, rs25681 and rs992670 was significantly associated with periodontitis in a dominant model (p = 0.001). The SNP rs17611 showed high linkage disequilibrium with rs1035029, rs25681 and rs992670. Smoking was also significantly associated with periodontitis (p = 0.006). CONCLUSION: The tagging SNP rs17611 of the C5 gene and smoking may be associated with periodontitis among the Hong Kong Chinese population.postprin

    A knowledge-based weighting framework to boost the power of genome-wide association studies

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    Background: We are moving to second-wave analysis of genome-wide association studies (GWAS), characterized by comprehensive bioinformatical and statistical evaluation of genetic associations. Existing biological knowledge is very valuable for GWAS, which may help improve their detection power particularly for disease susceptibility loci of moderate effect size. However, a challenging question is how to utilize available resources that are very heterogeneous to quantitatively evaluate the statistic significances. Methodology/Principal Findings: We present a novel knowledge-based weighting framework to boost power of the GWAS and insightfully strengthen their explorative performance for follow-up replication and deep sequencing. Built upon diverse integrated biological knowledge, this framework directly models both the prior functional information and the association significances emerging from GWAS to optimally highlight single nucleotide polymorphisms (SNPs) for subsequent replication. In the theoretical calculation and computer simulation, it shows great potential to achieve extra over 15% power to identify an association signal of moderate strength or to use hundreds of whole-genome subjects fewer to approach similar power. In a case study on late-onset Alzheimer disease (LOAD) for a proof of principle, it highlighted some genes, which showed positive association with LOAD in previous independent studies, and two important LOAD related pathways. These genes and pathways could be originally ignored due to involved SNPs only having moderate association significance. Conclusions/Significance: With user-friendly implementation in an open-source Java package, this powerful framework will provide an important complementary solution to identify more true susceptibility loci with modest or even small effect size in current GWAS for complex diseases. © 2010 Li et al.published_or_final_versio

    High nuclear expression of STAT3 is associated with unfavorable prognosis in diffuse large B-cell lymphoma

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    <p>Abstract</p> <p>Background</p> <p>The purpose of the study was to investigate the expression and prognostic value of STAT3 in diffuse large B-cell lymphoma (DLBCL).</p> <p>Methods</p> <p>Seventy-four DLBCL patients from 2001 to 2007 were reviewed in the study. The STAT3 expression in their tumor tissues was examined using the immunohistochemistry (IHC) method, and evaluated for its association with clinicopathological parameters.</p> <p>Results</p> <p>Strong nuclear staining of STAT3 and phosphorylated-STAT3<sup>tyr705 </sup>(P-STAT3) were observed in 19 cases (25.7%) and 24 cases (32.4%), respectively, and the expression levels were highly consistent between them (<it>P </it>= 0.001). The high nuclear expression of STAT3 was more frequent in the non-germinal center B cell-like (non-GCB) DLBCL than that in the GCB subtype, but not reaching significance (<it>P </it>< 0.061). The high nuclear expression of STAT3 was found to be correlated with poor overall survival (OS) (<it>P </it>= 0.005). Multivariate Cox regression analysis showed that the STAT3 expression was an independent prognostic factor for DLBCL patients regardless of CHOP or R-CHOP regimen used as the first-line therapy.</p> <p>Conclusion</p> <p>STAT3 is more frequently expressed in non-GCB DLBCL than that in GCB subtype, and its strong nuclear expression is correlated with poor OS in DLBCL.</p

    Comparison of fatty-acid-binding protein 4 and adiponectin levels in infrapatellar fat pad and subcutaneous adipose tissue, synovial fluid and plasma in subjects with knee osteoarthritis

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    Conference Theme: Defying the Aging Spine: Our Mission ContinuesConcurrent Free Papers 2 - Basic Science/General Orthopaedics: no. 2.8Introduction: It was recently reported that inflammation is involved in the pathogenesis of osteoarthritis (OA). Fattyacid-binding protein 4 (FABP4) and adiponectin are both adipocyte-derived cytokines closely related with inflammation pathways. The FABP4 exhibits a pro-inflammatory property while adiponectin shows anti-inflammatory effect. The study aimed to assess the expression of FABP4 and adiponectin in paired blood and synovial fluid from OA patients, and to examine whether the infrapatellar fat pad (IPFP) from OA subjects would release FABP4 and adiponectin similar to that of donor-matched subcutaneous adipose tissue (ScAT). Materials and Methods: Plasma, synovial fluid, ScAT, and IPFP of 20 OA patients (4 males and 16 females) were collected during total knee arthroplasty. Levels of FABP4 and adiponectin were measured in plasma, synovial fluid, and fat conditioned media using ELISA (AIS, HKU). Results: Levels of FABP4 were significantly higher in IPFP media than ScAT (p = 0.015), while the same were significantly higher in synovial fluid than in plasma (p < 0.001). There were no significant differences of adiponectin levels between IPFP and ScAT media (p = 0.737). Plasma levels of adiponectin were significantly higher than synovial fluid (p < 0.001). Discussion and Conclusion: The OA patients exhibit an inflammatory state in local environment (IPFP and synovial fluid) compared with systemic environment (ScAT and plasma). The IPFP may play a key role in OA inflammation and may be an important resource of inflammatory mediators in synovial fluid.postprin

    Aphasia in a Chinese-English bilingual speaker with dementia

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    This journal vol. entitled: 50th Academy of Aphasia Proceedingspublished_or_final_version50th Academy of Aphasia Proceedings, San Francisco, USA, 28-30 October 2012. In Procedia: Social and Behavioral Sciences, 2012, v. 61, p. 206-20

    Genetics of Lumbar Disk Degeneration: Technology, Study Designs, and Risk Factors

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    Lumbar disk degeneration (LDD) is a common musculoskeletal condition. Genetic risk factors have been suggested to play a major role in its cause. This article reviews the main research strategies that have been used to study the genetics of LDD, and the genes that thus far have been identified to influence susceptibility to LDD. With the rapid progress in genomic technologies, further advances in the genetics of LDD are expected in the next few years. © 2011 Elsevier Inc.postprin

    A study on the association of the chromosome 12p13 locus with sporadic late-onset alzheimer's disease in Chinese

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    Recent linkage and association studies have implicated the chromosome 12p13 locus as possibly harboring genetic variants predisposed to Alzheimer's disease (AD). We attempted to replicate this association in a Chinese data set comprised of 256 AD cases and 264 age-matched normal controls. A total of 14 single nucleotide polymorphisms (SNPs) were examined. Single marker association revealed the two SNPs in NCAPD2 (rs7311174 and rs2072374) as showing nominal significant p values (p = 0.0491 and 0.0116, respectively). Haplotype analysis found LD block one to be significantly associated with AD (global p = 0.0250). Haplotypes CGGATG and CAGTCG were also significantly associated with AD (p = 0.0498 and p = 0.0482, respectively). These genetic analyses provide evidence that the chromosome 12p13 locus is associated with AD in Chinese. © 2009 S. Karger AG, Basel.postprin

    Determination of Volatile Components of Ping-wei Powder(II) - Analysis of the Volatile Oil in Cortex Magnoliae Officinalis with GC/MS

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    2001-2002 > Academic research: refereed > Publication in refereed journalVersion of RecordPublishe

    Haplotypes in the urotensin II gene and urotensin II receptor gene are associated with insulin resistance and impaired glucose tolerance

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    We studied single nucleotide polymorphisms (SNPs) and haplotypes in the urotensin-II (UTS2) and urotensin-II receptor gene (UTS2R) in Hong Kong Chinese (224 hypertensive and 306 normotensive unrelated subjects) and their relation to hypertension and the metabolic syndrome. For UTS2, the GGT haplotype (-605G, 143G and 3836T) was associated with higher plasma level of U-II and insulin, and higher homeostasis model assessment of insulin resistance index and β-cell function. For UTS2R, the AC haplotype (-11640A and -8515C) was associated with higher 2 h plasma glucose after a 75 g oral glucose load. Therefore, U-II and its receptor may play a role in insulin resistance. © 2006 Elsevier Inc. All rights reserved.postprin

    Bioavailable testosterone predicts a lower risk of Alzheimer’s disease in older men: a 1-year cohort study

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    Oral Presentationpublished_or_final_versionThe 15th Annual Research Conference of the Department of Medicine, The University of Hong Kong, Hong Kong, 16 January 2010. In Hong Kong Medical Journal, 2010, v. 16, suppl. 1, p. 16, abstract no. 1
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